疾患遺伝子一覧



疾患遺伝子一覧
疾患
疾患名

遺伝子
MIM

遺伝形式

染色体座

遺伝子記号

遺伝子名

AD

+(p''.+

CST3

Cystatin C#'()+'(

AD'5q''.+-q'+.'TTR#.(2(.)

AD+'q+'.0-++.()

APP

Transthyretin(prealbumin,amyloidosis type I)
Amyloid beta(A/)precursor
protein

文献

MIM

脳血管障害
アミロイドアンギオパチー・アミロイドーシス
Amyloidosis VI(Cerebroarterial
amyloidosis, Icelandic type)
Amyloidosis VII(Leptomeningeal
amyloidosis)
Hereditary cerebral hemorrhage withamyloidosis, Dutch type(HCHWAD)#'()')(*.(/0'+ Proc Natl Acad Sci  : +23/-+235, '25.
Acta Neurol Scand  : '(+-''/, '253
FEBS Let  : ++2-+00, '253＋'3.0(( Neurology  : ').+-').3, '22.
Am J Path  : 0.'-0.., '22.
*'(/3.( Science  : ''+/-''+., '22(

凝固線溶系異常
Hemophilia A(HEMA)＋0(.3((

XR

Xq+5

F8

Hemophilia B(HEMB)
von Willebrand disease(VWD)
Factor V deﬁciency#0(.2((＋'20/((#++3/((XR
AD
AR

Xq+3.'-q+3.+'+p'0.0
'q+0

F9
VWF
F5

Hereditary thrombophilia due to protein
C deﬁciency, autosomal dominant
Hereditary thrombophilia due to protein
S deﬁciency, autosomal dominant
Plasminogen deﬁciency, type I
Plaminogen activator inhibitor '(PAI')
deﬁciency#'3.5.(

AD+q'0-q'/

PROC#.'+00.

AD

0p''.'-q''.+

PROS1#+'3(2(*'300.(

AR
AD

.q+.
3q+'.0-q++

PLG
SERPINE1＋'(30((

AD'q+0-q+)SERPINC1

Cerebral cavernous malformations '(CCM') #''.5.(
Cerebral cavernous malformations +(CCM+) #.(0+5/ADAD

3q''.+-q+'
3p'0

KRIT1
CCM2

Cerebral cavernous malformations 0(CCM0) #.(0+5)

AD

0p+..'#.(3)2)

AD#.''330AD#'+)0'(

Antithromnin III deﬁciency

Coagulation factor VIII,＋0(.3((
procoagulant component
Coagulation factor IX*0((3/.
von Willebrand factor＋'20/((
Coagulatio factor V(proaccelerin, *.'+0(2labile factor)
Protein C(inactivator of coagulation *.'++50
factors Va and VIIIa)
Protein S(alpha)*'3.55(Nature  : /+3-/0(, '25)
New Engl J Med  : 5/+-5/5, '25)
Nature   : '5'-'5+, '250
J Clin Invest  : '/)2-'/.), '253
Nature  : ./-.3, '22/

Plasminogen*'300)(
Serpin peptidase inhibitor, clade E *'300.((nexin, plasminogen activator
inhibitor type '), member 'Serpin peptidase inhibitor, clade C ＋'(30(((antithrombin), member 'Proc Natl Acad Sci  : '')-''2, '22'
New Engl J Med  : '3+2-'300, '22+

Proc Natl Acad Sci  : +5+2-+50+, '253
Blood  : /32-/50, '252

J Biol Chem  : ''3/-''3., '25.
Nucleic Acids Res  : +/(5, '25.

血管異常*.(/+'/ Nat Genet  : '52-'20, '222*.(32+2 Am J Hum Genet  : '/)2-'/./, +((0PDCD10

KRIT', ankyrin repeat containing
Cerebral cavernous
malformations +Programmed cell death '('0q0/

COL4A1

Collagen, type IV, alpha-'*'+('0( New Engl J Med   : '/52-'/2., +((.

'0q0/

COL4A1

Collagen, type IV, alpha-'*'+('0( New Engl J Med   : +.53-+.2), +((3AD

'2p'0.+-p'0.'

NOTHC3

Notch homolog 0(Drosophila)*.((+3. Nature  : 3(3-3'(, '22.

#.(('/+

AR'(q+).0-q+..+HTRA1

HtrA serine peptidase '*.(+'2/ New Engl J Med  : '3+2-'302, +((2Alzheimer disease '(AD')#'(/0((

AD+'q+'.0-++.()

APP

Alzheimer disease 0(AD0)Alzheimer disease /(AD/)#.(35++#.(.552ADAD'/q+/.0'q0'-q/+

PSEN1
PSEN2

Frontotemporal dementia(FTD)#.((+3/AD'3q+'.'

MAPT

Frontotemporal lobar degenetation withubiquitin-positive inclusions(FTLDU)
Frontotemporal dementia, chromosome
0-linked(FTD0)
Encephalopathy, familial, withneuroserpin inclusion bodies(FENIB)
Familial British dementia(FBD)
Prion diseases
Familial Creutzfeldt-Jakob disease(CJD)
Gerstmann-Sträussler disease(GSD)
Huntington disease-like '(HDL')#.(3/5)AD'3q+'.0+

GRN#.((32)

AD

0q''.+

CHMP2B

Chromatin-modifying protein +B＋.(2)'+ Nat Genet  : 5(.-5(5, +(()#.(/+'5AD

0q+.

SERPINI1*.(+//) Nature   : 03.-032, '222#'3.)((

AD

'0q'/

ITM2B

Serpin peptidase inhibitor, clade I(neuroserpin), member 'Integral membrane protein +B#'+0/((#'03//(#.(0+'5AD
AD
AD+(pter-p'++(pter-p'++(pter-p'+

PRNP
PRNP
PRNP

Prion protein
Prion protein
Prion protein

Familial fatal insomnia(FFI)
Opticoacoustic nerve atrophy withdementia(Jensen syndrome)#.(((3+#0''')(AD
XR+(pter-p'+
Xq++

PRNP
TIMM8A*'3../( Lancet I : )'-)+, '252*'3../( Nature  : 0/+-0/), '252*'3../( Am J Hum Genet  : '05)-'055, +(('
Brain  : +03)-+05., '222*'3../( New Engl J Med  : ///-//2, '22+*0((0). Am J Hum Genet (suppl.): A0/2, '223＋'/0'((#.(./05

ADAD/p'..0'.q+/.0

HTT
JPH3

Huntingtin
Junctophilin 0*.(2''5 Am J Hum Genet  : /+-)', +(()

CADASIL・その他
Brain small vessel disease withhemorrhage
Hereditary angiopathy with nephropathy,
aneurysms, and muscle cramps(HANAC)
Cerebral arteriopathy, autosomal
dominant, with subcortical infarcts andleukoencephalopathy(CADASIL)
Cerebral autosomal recessive
arteriopathy with subcortical infarcts
and leukoencephalopathy(CARASIL)
痴呆性疾患
Amyloid beta(A/)precursor*'(/3.( Nature  : 3(/-3(., '22'
proteinPresenilin '＋'(/0'' Nature  : 3)/-3.(, '22)
Presenelin +(Alzheimer disease /) ＋.((3)2 Science  : 230-233, '22)
Nature  : 33)-335, '22)
Microtubule-associated protein＋')3'/( Nature   : 3(+-3(), '225tau
Proc Natl Acad Sci: 3303-33/', '225
Ann Neurol  : 5')-5+), '225
Granulin*'052/) Nature  : 2'.-2'2,2+(-2+/, +((.

Prion protein
Traslocase of inner mitochindrial
membrane 5 homolog A(yeast)*.(02(/ Nature : 33.-35', '222

錐体外路疾患
Huntington disease(HD)
Huntington disease-like +(HDL+)
Benign hereditary chorea(BHC)#''53((AD'/q'0

NKX2-1

NK+ homeobox 'Choreoacanthocytosis(CHAC)#+((')(AR

2q+'

VPS'0A

Adult-onset basal ganglia disease(neuroferritinopathy)
Striatonigral degeneration, infantile(SNDI)
Neurodegeneratin with brain ironaccumulation '(NMIA' ; HallervordenSpatz disease)
Hypoprebetalipoproteinemia,
acatntocytosis, retinitis pigmentosa, andpallidal degeneration(HARP
syndrome)
Neuroaxonal dystrophy, infantile(INAD')#.(.')2AD'2q'0.0

FTL

Vacuolar protein sorting '0
homolog A(S. cerecisiae)
Ferritin, light polypeptide＋'/0'(( Cell  : 23'-250, '220*.()+.5 Nat Genet  : 033-035, +(('Ann Neurol: 030-05(, +(('*.((.0) Hum Mol Genet  : 23'-232, +((+J Clin Invvest  : /3)-/5(, +((+*.()235 Nat Genet  : ''2-'+(, +(('Nat Genet  : '+'-'++, +(('*'0/32( Nat Genet  : 0)(-0)/, +(('#+3'20(AR'2q'0.0+-q'0.0'

NUP62

Nucleoporin .+kDa*.()5') Ann Neurol  : +'/-+++, +((.

#+0/+((

AR+(p'0-p'+.0

PANK2

Pantothenate kinase +*.(.')3 Nat Genet  : 0/)-0/2, +(('#.(3+0.

AR+(p'0-p'+.0

PANK2

Pantothenate kinase +*.(.')3 Neurology  : '.30-'.3/, +((+#+)..((

AR++q'0.'PLA2G6#.'(+'3AR++q'0.'PLA2G6

Phospholipase A+, group VI(cytosplic, calcium-independent)
Phospholipase A+, group VI(cytosplic, calcium-independent)*.(0.(/ Nat Genet  : 3)+-3)/, +((.

Neurodegeneration with brain ironaccumulation +(NBIA+)*.(0.(/ Nat Genet  : 3)+-3)/, +((.

疾患遺伝子一覧
疾患

遺伝子

疾患名

MIM
#.(502)

遺伝形式
AR

染色体座
++q'0.'

遺伝子記号
PLA2G6

Torsion dystonia ', autosomal domonant(DYT', Dystonia musculorum
deformans ')Myoclonic dystonia(DYT'')
Dystonia '+(DYT'+)#'+5'((

AD

2q0/

TOR1A

#')22((#'+5+0)

AD
AD

3q+'
'2q'+-q'0.+

SGCE
ATP1A3

Myoclonus-dystonia syndrome
Torsion dystonia 0, X-linked(DYT0)#')22((#0'/+)(AD
XR''q+0.'
Xq'0

DRD2
TAF1

Dystonia '.(DYT'.)#.'+(.3

AR+q0'.0PRKRA

Karak syndrome

Dystonia '5(DYT'5)#.'+'+.

AD'p0)-p0'.0

SLC2A1Juvenile-onset dystonia
McLeod syndrome#.(303'＋0'/5)(AD
XR

3p++-p'+
Xp+'.+-p+'.'

ACTB
XK

Mohr-Tranebjaerg syndrome(MTS)#0(/3((XR

Xq++

TIMM8A

Hypogonadism, alopetia, daibetes mellitus,
mental retardation, and extrapyramidal
syndrome(Woodhouse-Sakati syndrome)
Paroxysmal nonkinesigenic dyskinesia '(PNKD')#+/'(5(AR+q++.0-q0)

C2orf37#''55((

AD

+q0)

PNKD

Gilles de la Tourette syndrome#'03)5(AD'0q0'

SLITRK1

Familial Parkinson disease type '(PARK', PD')
Familial Parkinson disease type /(PARK/, PD/)
Parkinson disease +, autosomal recessive
juvenile(PARK+)
Parkinson disease )(PARK))#'.5.('

AD

/q+'

SNCA

#.())/0

AD

/q+'

SNCA

#.((''.

AR.q+).+-q+3

PARK2＋'2'0/+

AD

/p'/

UCHL1

#.()2(2AR'p0..+PINK1

Parkinson disease ., autosomal recessive
early-onset(PARK.)
Parkinson disease 3, autosomal recessive
early-onset(PARK3)
Parkinson disease 5(PARK5)
Kufor-Rakeb syndrome(PARK2)
Parkinson disease '0(PARK'0)

遺伝子名
Phospholipase A+, group VI(cytosplic, calcium-independent)
torsin family ', member A(torsin A)

文献
MIM*.(0.(/ Nat Genet  : 3)+-3)/, +((.
*.()+(/ Nat Genet  : /(-/5, '223

Sarcoglycan, epsilon*.(/'/2
ATPase, Na ＋/K ＋transporting,*'5+0)(
alpha 0 polypeptide
Dopamine receptor D+*'+./)(TAF' RNA polymerase II, TATA *0'0.)(box binding protein(TBP)associated factor, +)(kDa
Protein kinase, interferon*.(0/+/inducible double stranded DNA
dependent activator
Solute carrier family +(facilitated *'05'/(
glucose transporter), member'
actin, beta*'(+.0(X-linked Kx blood group(McLeod ＋0'/5)(
syndrome)
Traslocase of inner mitochindrial *0((0).
membrane 5 homolog A(yeast)
Chromosome + open reading*.'+)')
frame 03
Paroxymal nonkinesigenic
dyskinesia ; Myoﬁbrillogenesis
regulator '(MR' ; KIAA''5/)
SLIT and NTRK-like family,
member 'Synuclein, alpha(non A/ componentof amyloid precursor)
Synuclein, alpha(non A/ componentof amyloid precursor)
Parkinson disease(autosomal
recessive, juvenile)+, parkin
Ubiquitin carboxyl-terminal
esterase L'(ubiquitin
thiolesterase)
PTEN induced putative kinase 'Nat Genet  : ..-.2, +(('
Neuron  : '.2-'3), +((/
Proc Natl Acad Sci  : )'30-)'3., '222
Am J Hum Genet  : 020-/(., +((3Lancet Neurol  : +(3-+'), +((5J Clin Invvest  : +')3-+'.5, +((5Ann Neurol  : /.)-/3., +((+
Cell  : 5.2-55(, '22/
Nat Genet  : '33-'5(, '22.
Am J Hum Genet  : .5'-.2', +((5*.(2(+0 Hum Mol Genet  : 0'.'-0'3(, +((/*.(2.35 Science  : 0'3-0+(, +(()*'.052( Science  : +(/)-+(/3, '223*'.052( Science   : 5/', +((0*.(+)// Nature   : .()-.(5, '225＋'2'0/+ Nature : /)'-/)+, '225*.(50(2 Science   : '')5-''.(, +((/*.(.0+/

AR

'p0.

PARK7

AD
AR
AD

'+q'+
'p0.
+p'+

LRRK2
ATP13A2
HTRA2

Parkinson disease(autosomal
recessive, early onset)3
Leucine-rich repeat kinase
ATPase type '0A+
HtrA serine peptidase +*.(+)00 Science #.(3(.(*.(..20*.'(+23: +).-+)2, +((0Spinocerebellar ataxia '(SCA')
Spinocerebellar ataxia +(SCA+)#'.//((#'50(2(

AD
AD

.p+0
'+q+/

ATXN1
ATXN2

Ataxin 'Ataxin +Machado-Joseph disease(MJD,
Spinocerebellar ataxia 0, SCA0)Spinocerebellar ataxia )(SCA))
Spinocerebellar ataxia .(SCA.)#'(2')(

AD'/q0+.'ATXN3

Ataxin 0*.(')). Nat Genet  : ++'-++., '220*.(')'3 Nat Genet  : +.2-+3., '22.
Nat Genet  : +33-+5/, '22.
Nat Genet  : +5)-+2', '22.
*.(3(/3 Nat Genet  : ++'-++5, '22/#.((++/#'50(5.

AD
AD

''q'0
'2p'0

SPTBN2
CACNA1A

Spinocerebellar ataxia 3(SCA3)Spinocerebellar ataxia 5(SCA5)#'./)((#.(53.5

ADAD

0p+'.'-p'+
'0q+'

ATXN7
ATXN8OSSpinocerebellar ataxia '((SCA'()
Spinocerebellar ataxia ''(SCA'')
Spinocerebellar ataxia '+(SCA'+)#.(0)'.
#.(//0+#.(/0+.

AD
AD
AD++q'0-qter')q').+)q0'-q00

ATXN10TTBK2
PPP2R2B

Spinocerebellar ataxia '0(SCA'0)#.()+)2AD'2q'0.0-q'0./

KCNC3

Spinocerebellar ataxia '/(SCA'/)
Spinocerebellar ataxia ')(SCA'))#.()0.'#.(..)5AD
AD'2q'0./
0p+.-p+)

PRKCG
ITPR1

Spinocerebellar ataxia '3(SCA'3)#.(3'0.

AD

.q+3

TBP

Spectrin, beta, nonerythrocytic, +Calcium channel, voltage-dependent,
P/Q type, alpha 'A subunit
Ataxin 3
ATXN5 opposite strand(noncoding)Ataxin '(Tau tubulin kinase +Protein phosphatase +(formerly+A), regulatory subunit B, beta
isoform
Potassium voltage-gated channel,
Slhaw-related subfamily,
member 0
Protein kinase C, gamma
Inositol ', /, )-triphosphate
receptor, type 'TATA box binding protein

Spinocerebellar ataxia +3(SCA+3)
Dentatorubral-pallidoluysian atrophy(DRPLA)
Cerebellar atrophy, ataxia, and mental
retardation#.(20(3#'+)03(

AD
AD

'0q0/
'+p'0.0'

FGF14
ATN1

Fibroblast growth factor '/Atrophin '*.((3(+

AD

'+q'0

SCN8A

Sodium channel, voltage gated,
type VIII, alpha subunit#++20((#+(52+(

AR
AR

2q'0
2p'0.0FXNAPTX

Frataxin
Aprataxin#.(.((+

AR

2q0/

SETX

Senataxin*.(.5+2 Science  : '/+0-'/+3, '22.
*.(.0)( Nat Genet  : '5/-'55, +(('Nat Genet  : '52-'20, +(('*.(5/.) Nat Genet  : +()-0'+, +((/#.'(3/0

AR

.q+)

SYNE1

#.'+('.

AR'q/+.+

CABC1#+(52((

AR''q++.0

ATM

Spectrin repeat containong,
nuclear envelope 'Chaperone, ABC' activity of bc'
complex homolog(S. pombe)
Ataxia telangiectasia mutated*.2.25( Am J Hum Genet  : .+0-.0(, +((5Am J Hum Genet  : ..'-.3+, +((5*.(3)5) Science  : '3/2-'3)0, '22)*.(2((3 Neuron  : )2)-.((, +((/*.'()'0 Nat Genet  : ''5/-''2', +((.
*.(.//' Hum Mol Genet  : +(22-+''', +(()

常染色体優性脊髄小脳運動失調症*.(/25) Nat Genet  : '5/-'2(, +((.
*.('('' Nat Genet  : .+-.2, '223*.(3./( Nat Genet  : .)-3(, '223*.(0.5( Nat Genet  : 032-05/, '222*.''')( Nat Genet  : '2'-'2/, +(((*.''.2) Nat Genet  : '/0/-'/0., +((3*.(/0+) Nat Genet  : 02'-02+, '222*'3.+./ Nat Genet  : //3-/), +((.

*'3.25( Am J Hum Genet  : 502-5/2, +((0*'/3+.) PLoS Genet  : e'(5, +((3*.(((3) Hum Mol Genet  : +(/3-+()0, '222
Eur J Hum Genet : ')(-'./, +(('Hum Mol Genet  : '//'-'//5, +(('
Brain  : '202-'2/3, +(('*.(')') Am J Hum Genet  : '2'-'22, +((0*.(3/.+ Nat Genet  : 2-'0, '22/
Nat Genet  : '/-'5, '22/*.((3(+ J Med Genet  : )+3-)0(, +((.

常染色体性劣性脊髄小脳運動失調症
Friedreich ataxia(FRDA)
Ataxia, early-onset, with oculomotor
apraxia and hypoalbunemia(EAOH)
Spinocerebellar ataxia, autosomal
recessive '(SCAR' ; Ataxiaoculomotor apraxia +, AOA+)
Spinocerebellar ataxia, autosomal
recessive 5(SCAR5)
Spinocerebellar ataxia, autosomal
recessive 2(SCAR2)
Ataxia-telangiectasia(AT, Louis-Bar
syndrome)*.(5//' Nat Genet  : 5(-5), +((3





疾患遺伝子一覧
疾患

遺伝子

疾患名
Ataxia-telangiectasia-like disorder(ATLD)MIM#.(/02'

遺伝形式
AR

染色体座
''q+'

遺伝子記号
MRE11A

Spinocerebellar ataxia, autosomal recessive,with axonal neuropathy(SCAN')
Cerebellar ataxia, Cayman type
(ATCAY)
Marinesco-Sjögren syndrome(MSS)#.(3+)(

AR'/q0'-q0+

TDP1#.('+05AR'2p'0.0

ATCAY#+/55((

AR

)q0'

SIL1

#+33/.(

AR

5q'0.'-q'0.0

TTPA#+(('((

AR/q++-q+/

MTTP＋'(330(

AD

+p+/

APOB

#+.''((

AR'(p'+.'

CUBN

文献

遺伝子名
MRE'' meiotic recombination ''homolog A(S. cerevisiae)
Tyrosyl-DNA phosphodiesterase 'MIM*.((5'/ Cell

Ataxia, cerebellar, Cayman type(caytaxin)
SIL' homolog, endoplasmic
reticulum chaperone(S.
cerevisiae)*.(5'32 Nat Genet  : +./-+.2, +((0: )33-)53, '222*.(3'25 Nat Genet  : +.3-+3+, +((+*.(5(() Nat Genet  : '0(2-'0'', +(()
Nat Genet  : '0'+-'0'/, +(()

ビタミン・脂質代謝異常
Familial isolated deﬁciency of vitamin E(VED)
Abetalipoproteinemia(ABL ; BassenKornzweig syndrome)
Hypobetalipoproteinemia,
normotriglyceridemic
Hereditary megaloblastic anaemia '(MGA')
Hereditary megaloblastic anaemia '(MGA')
Transcobalamin II deﬁciency

Tocopherol(alpha)transfer*.((/')
proteinMicrosomal triglyceride transfer*')3'/3
protein
Apolipoprotein B〔including Ag＋'(330((x)antigen〕
Cubilin(intrinsic factor-cobalamin *.(+223
receptor)
Amnionless homolog(mouse)*.()322Nat Genet: ).-.+, '22)

Nature  : .)-.2, '220
Hum Mol Genet  : +'(2-+''., '220
Biochem Biophys Res Commun  : +32-+5),'253
Nat Genet  : 0(2-0'0, '222#+.''((

AR

'/q0+

AMN

＋+3)0)(

AR++q''.+-qter

TCN2

Transcobalamin II ; macrocytic
anemia＋+3)0)( Biochem Buophys Res Commun   : ''''-'''5,'22/
Hum Mol Genet  : '50)-'5/(, '22/

Nat Genet  : /+.-/+2, +((0#0((.+0

XR

Xq+3.0

FMR1

Fragile X mental retardation '*0(2))( Neurology  : '+3-'0(, +(('

#0('50)

XR

Xq++-q+/PRPS1

Phosphoribosylpyrophosphatesynthetase '*0''5)( Am J Hum Genet  : )(3-)'5, +((3#0'(3((XD

Xq+..+-q+3

FRMD7

FERM domain ontaining 3*0((.+5 Nat Genet  : '+/+-'+//, +((.

#0(00)(#0'+2+(#'5+.((

XR
XR
AD

Xq+5
Xq++
'/q''-q+'

L1CAM
PLP1
ATL1

L' cell adhesion molecule
Proteolipid protein 'Atlastin GTPase '*0(55/( Nat Genet  : /(+-/(3, '22/*0((/(' Nat Genet  : +)3-+.+, '22/*.(./02 Nat Genet  : 0+.-00', +(('#'5+.('

AD+p++-p+'

SPAST

Spastin*.(/+33 Nat Genet  : +2.-0(0, '222#+3(5((

AR

5q+'.0CYP7B1＋.(03'' Am J Hum Genet  : )'(-)'), +((5#.((0.0

AD')q''.'

NIPA1#.(3+)2

AR'.q+/.0

SPG7#.(0).0

AD5q+/.'0

KIAA0196

Cytochrome P/)(, family 3,
subfamily B, polypeptide 'Non imprinted in Prader-Willi/Angelman syndrome 'Spastic paraplegia 3(pure andcomplicated autosomal
recessive)
KIAA('2.

#.(/'53

AD

'+q'0

KIF5A

Kinesin family member )A*.(+5+' Am J Hum Genet  : ''52-''2/, +((+#.(/0.(

AR')q+'.'

SPG11

AD

+q+/

HSPD1

#+3(3((

AR'/q+/.'ZFYVE26#+3(.5)AD''q'+-q'/

BSCL2#+3)2((

AR'0q'+.0

SPG20#+/52((

AR')q+'-q++SPG21#0(()+0

XD

Xq'0.+

SLC16A2#.'(+)(

AD+p''.+REEP1Spastic paraplegia ''(autosomal
recessive)
Heat shock .(kDa protein '(chaperonin)
Zinc ﬁnger, FYVE domain
containing +.
Bernardinelli-Seip congenital
lipodystrophy +(seipin)
Spatic paraplegia +(, spastin(Troyer syndrome)
Spastic paraplegia +'(autosomal
recessive, Mast syndrome)
Solute carrier family '., member +(monocarboxylic acidtransporter 5)
Receptor accessory protein '*.'(5// Nat Genet  : 0..-03+, +((3#.()+5(#.'(+//

AD'(q+/.+ZFYVE27#.'+(+(

AR'2p'0.0

PNPLA6#.'+)02AD0q+).0'SLC33A1#.(3++)

AR

+q00

ALS2

#+3())(

AR

'0q'+

SACS

#+3(+((

AR'3p''.+

ALDH3A2#'()/((#+()'((

ADAR+'q++.'
+q00

SOD1
ALS2
SETX

その他
Fragile X tremor/ataxia syndrome(FXTAS)ARTS syndrome
先天性眼振
Nystagmus ', Congenital, X-linked(NYS')
家族性痙性対麻痺
Spastic paraplegia ', X-linked(SPG')
Spastic paraplegia +, X-linked(SPG+)
Spastic paraplegia 0A, autosomal
dominant(SPG0A)
Spastic paraplegia /, autosomal dominant(SPG/)
Spastic paraplegia )A, autosomal
recessive(SPG)A)
Spastic paraplegia ., autosomal dominant(SPG.)
Spastic paraplegia 3, autosomal recessive(SPG3)
Spastic paraplegia 5, autosomal dominant(SPG5)
Spastic paraplegia '(, autosomal dominant(SPG'()
Spastic paraplegia '', autosomal recessive(SPG'')
Spastic paraplegia '0, autosomal dominant(SPG'0)
Spastic paraplegia '), autosomal recessive(SPG'))
Spastic paraplegia '3(Silver syndrome)
Spastic paraplegia +(, autosomal recessive(SPG+( ; Troyer syndrome)
Mast syndrome(Spastic paraplegia +',autosomal recessive ; SPG+')
Allan-Herndon-Dudley syndrome(Spastic paraplegia ++, X-linked ;SPG++)
Spastic paraplegia 0', autosomal dominant(SPG0')
Spastic paraplegia 00, autosomal dominant(SPG00)
Spastic paraplegia 02, autosomal recessive(SPG02)
Spastic paraplegia /+, autosomal dominant(SPG/+)
Infantile-onset ascending hereditary
spastic paralysis(IAHSP)
Spastic ataxia, Charlevoix-Saguenay type
(SACS)
Sjögren-Larsson syndrome(SLS)

Zinc ﬁnger FYVE domain
containing protein +3
Patatin-like phospholipase
domain containing .
Solute carrier family 00(acetylCoA transporter), member 'Amyotrophic lateral sclerosis +(juvenile)
Spastic ataxia of CharlevoixSaguenay(sacsin)
Aldehyde dehydrogenase 0
family, member A+*.(5'/) Am J Hum Genet  : 2.3-2.', +((0*.(+350 Cell  : 230-250, '225*.'(.)3 Am J Hum Genet  : ')+-'.', +((3*''5'2( Am J Hum Genet  : '0+5-'00+, +((+*.'+('+ Am J Hum Genet  : 22+-'((+, +((5*.(.')5 Nat Genet  : +3'-+3., +((/*.(3''' Nat Genet  : 0/3-0/5, +((+*.(5'5' Am J Hum Genet  : ''/3-'')., +((0*0(((2) Thyroid  : .3+, +((0Lancet  : '/0)-'/03, +((/Am J Hum Genet  : '.5-'3), +((/*.(2'02 Am J Hum Genet  : 0.)-0.2, +((.
*.'(+/0 Am J Hum Genet  : 0)'-0)3, +((.
*.(0'23 Am J Hum Genet  : 35(-35), +((5*.(0.2( Am J Hum Genet  : 3)+-3)2, +((5*.(.0)+ Am J Hum Genet  : )'5-)+3, +((+*.(//2( Nat Genet  : '+(-'+), +(((*.(2)+0 Nat Genet  : )+-)3, '22.

運動ニューロン疾患
家族性筋萎縮性側索硬化症
Amyotrophic lateral sclerosis '(ALS')
Amyotrophic lateral sclerosis +, juvenile(ALS+)
Amyotrophic lateral sclerosis /, juvenile(ALS/)
Amyotrophic lateral sclerosis .(ALS.)
Amyotrophic lateral sclerosis 5(ALS5)
Incl. Spinal muscular atrophy, proximal,
adult, autosomal(Finkel type)
Amyotrophic lateral sclerosis 2(ALS2)#.(+/00

AD

2q0/%.(5(0(AD'.q''.+

FUS#.(5.+3#'5+25(AD+(q'0.0

VAPB#.''52)AD'/q''.+ANG

Superoxide dismutase ', soluble
Amyotrophic lateral sclerosis +(juvenile)
Senataxin*'/3/)( Nature  : )2-.+, '220*.(.0)+ Nat Genet  : '.(-'.), +(('Nat Genet  : '..-'30, +(('*.(5/.) Am J Hum Genet  ''+5-''0), +((/

Fusion〔involved in t('+；'.)in
malignant liposarcoma〕
VAMP(vesicle-associatedmembrane protein)-associatedprotein B and C
Angiogenin, ribonuclease, RNase
A family, )*'03(3( Science  : '+()-'+(5, +((2Science  : '+(5-'+'', +((2*.()3(/ Am J Hum Genet  : 5++-50', +((/*'()5)( Nat Genet  : /''-/'0, +((.

疾患遺伝子一覧
疾患

遺伝子

疾患名

MIM

遺伝形式

染色体座

遺伝子記号

Amyotrophic lateral sclerosis '((ALS'()#.'+(.2

AD'p0..+TARDBP

遺伝子名
TAR DNA binding protein



文献

MIM

*.()(35 Science  : '..5-'.3+, +((5Nat Genet  : )3+-)3/, +((5脊髄性筋萎縮症・遠位型運動ニューロノパチー/ニュロパチー
Spinal muscular atrophy

Spinal muscular atrophy, type I(SMA',
Werdnig-Hoﬀmann disease)
Spinal muscular atrophy, type II(SMA+, Intermediate type)
Spinal muscular atrophy, type III(SMA0, Kugelberg-Welander
syndrome)
Spinal muscular atrophy, type IV(SMA/)
Spinal and bulbar muscular atrophy, Xlinked '(SMAX', SBMA)
Spinal muscular atrophy, distal, autosomal
recessive, '(DSMA' ; SMARD' ;HMN.)
Spinal muscular atrophy, distal, autosomal
reseccive, /(DSMA/)#+)00((

AR)q'+.+-q'0.0

SMN1#+)0))(

AR)q'+.+-q'0.0

SMN1#+)0/((

AR)q'+.+-q'0.0

SMN1#+3'')(

AR)q'+.+-q'0.0

SMN1#0'0+((XR

Xq''-q'+AR#.(/0+(

AR#.''(.3

AR'p0.

PLEKHG5

Neuronopathy, distal hereditary motor,
type IIA(HMN+A)
Neuronopathy, distal hereditary motor,
type V(HMN) ; DSMAV)
Neuronopathy, distal hereditary motor,
type VIIB(HMN3B)#')5)2(AD'+q+/.0#.((32/AD

3p')#.(3./'

AD

Cell  : '))-'.), '22)
Nat Genet  : 00)-003, '22)
Lancet  : 0'.-0'3, '22)

Survival of motor neuron ',telomericSurvival of motor neuron ',telomericSurvival of motor neuron ',telomeric*.((0)/

Survival of motor neuron ',telomericAndrogen receptor*.((0)/

Immunoglobulin mu binding
protein +*.(()(+ Nat Genet  : 3)-33, +(('*.'''(' Am J Hum Genet  : .3-3., +((3HSPB8Pleckstrin homology domain
containing, family G(with
RhoGef domain)member )Heat shock ++kDa protein 5

GARS

Glycyl-tRNA synthetase*.((+53 Am J Hum Genet  : '+20-'+22, +((0

+p'0

DCTN1

Dynactin '(p')(, glued homolog,
Drosophila)*.(''/0 Nat Genet  : /))-/)., +((0''q'0.+-q'0./ IGHMBP2*.((0)/*.((0)/*0'03(( Nature 0)+ : -32, '22'*.(5('/ Nat Genet  : )23-.(', +((/

遺伝性ニューロパチー
遺伝性運動感覚ニューロパチー(Charcot-Marie-Tooth 病)
Charcot-Marie-Tooth disease,demyelinating, type 'A(CMT'A)
Charcot-Marie-Tooth disease,demyelinating, type 'B(CMT'B)
Charcot-Marie-Tooth disease,demyelinating, type 'C(CMT'C)#''5++(

AD'3p''.+

PMP22

Peripheral myelin protein ++*.('(23 Cell  : +'2-+0+, '22'#''5+((

AD'q++-q+0

MPZ

Myelin protein zero*')2//( Nat Genet#.('(25

AD'.p'0.0-p'+

LITAF*.(032) Neurology  : ++-+., +((0Charcot-Marie-Tooth disease,demyelinating, type 'D(CMT'D)
Charcot-Marie-Tooth disease anddeafness(CMT'E)
Charcot-Marie-Tooth disease,demyelinating, type 'F(CMT'F)
Peripheral demyelinating neuropathy,
central dysmyelination, Waardenburg
syndrome, and Hirschsprung disease(PCWH)
Charcot-Marie-Tooth disease, X-linked, '(CMTX')
Charcot-Marie-Tooth disease, X-linked
recessive, )(CMTX))
Charcot-Marie-Tooth disease, dominantintermediate B(CMTDIB ; DI-CMTB ;CMTDI')
Charcot-Marie-Tooth disease, dominantintermediate C(CMTDIC ; DI-CMTC)
Charcot-Marie-Tooth disease, dominantintermediate D(CMTDID)
Charcot-Marie-Tooth disease, recessiveintermediate A(CMTRIA ; RI-CMTA)#.(3.35AD'(q+'.'-q++.'

EGR2

Lipopolysaccaride-induced
tumor necrosis factor-alphafactor
Early growth response +#''50((

AD'3p''.+

PMP22

Peripheral myelin protein ++*.('(23 Am J Hum Genet  : ')5(-')20, '222#.(330/

AD

5p+'

NEFL

Neuroﬁlament, light chain*'.++5( Brain  : )2(-)23, +((0#.(2'0.

AD

++q'0

SOX10

SRY(sex-determining region Y)box '(*.(+++2 Ann Neurol  : 0'0-0'5, '222

#0(+5((XR

Xq'0.'GJB1

XR

Xq++-q+/

PRPS1#.(./5+AD'2p'+-p'0.+

DNM2

Gap junction protein, beta ',0+kDa
Phosphoribosylpyrophosphatesynthetase 'Dynamin +*0(/(/( Science  : +(02-+(/+, '220#0''(3(: 0'-0/, '220*'+2('( Nat Genet  : )0-)), '225

*0''5)( Am J Hum Genet  : ))+-))5, +((3*.(+035 Nat Genet  : +52-+2/, +(()#.(50+0

AD

'p0)

YARS

Tyrosyl-tRNA synthetase*.(0.+0 Nat Genet  : '23-+(+, +((.

#.(332'AD'q++-q+0

MPZ

Myelin protein zero*')2//( J Neurol Neurosurg Psychiat  : '3/-'32, '222#.(50/(

AR

5q+'

GDAP1

*.(.)25 Neurology

Charcot-Marie-Tooth disease, axonal,
type +A'(CMT+A')
Charcot-Marie-Tooth disease, axonal,
type +A+(CMT+A+)
Charcot-Marie-Tooth disease, axonal,
type +B(CMT+B)
Charcot-Marie-Tooth disease, axonal,
type +B'(CMT+B')
Charcot-Marie-Tooth disease, axonal,
type +D(CMT+D)
Charcot-Marie-Tooth disease, axonal,
type +E(CMT+E)
Charcot-Marie-Tooth disease, axonal,
type +F(CMT+F)
Charcot-Marie-Tooth disease, axonal,
type +I(CMT+I)
Charcot-Marie-Tooth disease, axonal,
type +J(CMT+J)
Charcot-Marie-Tooth disease, axonal,
type +K(CMT+K)#''5+'(

AD'p0..+

KIF1B

Ganglioside-induced
diﬀerentiation-associatedprotein 'Kinesin family member 'B#.(2+.(

AD'p0..+

MFN2

Mitofusion +*.(5)(3 Nat Genet  : //2-/)', +((/#.((55+

AD

0q+'

RAB7

*.(++25 Am J Hum Genet  : 3++-3+3, +((0#.())55

AR'q+'.'LMNA

RAB3, member RAS oncogene
familyLamin A/C#.('/3+

AD

3p')

GARS

Glycyl-tRNA synthetase*.((+53 Am J Hum Genet  : '+20-'+22, +((0#.(3(5/

AD

5p+'

NEFL

Neuroﬁlament, light chain*'.++5( Am J Hum Genet  : 03-/., +(((#.(.)2)AD

3q''-q+'HSPB1

Heat-shock +3-kD protein '*.(+'2) Nat Genet  : .(+-.(., +((/#.(3.33

AD'q++-q+0

MPZ

Myelin protein zero*')2//( Neurology#.(330.

AD'q++-q+0

MPZ

Myelin protein zero*')2//( Brain  : +5'-+2(, '222#.(350'

AR

5q+'

GDAP1

*.(.)25 Arch Neurol  : )25-.(/, +((0Charcot-Marie-Tooth disease, axonal,
type +L(CMT+L)
Hypertrophic neuropathy of DejerineSottas(HMSN0)
Hypertrophic neuropathy of DejerineSottas(HMSN0)
Hypertrophic neuropathy of DejerineSottas(HMSN0)#.(5.30

AD'+q+/.0

HSPB8

Ganglioside-induced
diﬀerentiation-associatedprotein 'Heat shock ++kDa protein 5#'/)2((

AD'3p''.+

PMP22

Peripheral myelin protein ++*.('(23 Nat Genet: +.2-+30, '220#'/)2((

AD

'q++

MPZ

*')2//( Nat Genet: +..-+.5, '220#'/)2((

AR'2q'0.'0-'0.+

PRX

Myelin protein zero(CharcotMarie-Tooth neuropathy 'B)
Periaxin*.()22) Cell : '5.)-'53+, +((+: )53-)23, +(('*')(00( Am J Hum Genet  : 3+.-30., +((+

: '023-'/(', '225*.(5('/ Hum Genet  : +++-++/, +(()*.()3+) Am J Hum Genet  : 0+)-000, +(('



疾患遺伝子一覧疾患

遺伝子
MIM#'/)2((#+'//((

AR

5q+'

GDAP1

Charcot-Marie-Tooth disease, type /B'(CMT/B')
Charcot-Marie-Tooth disease, type /B+(CMT/B+)
Charcot-Marie-Tooth disease, type /C(CMT/C)
Charcot-Marie-Tooth disease, type /D(CMT/D ; Hereditary motor andsensory neuropathy, Lom type)
Charcot-Marie-Tooth disease, type /F(CMT/F)
Charcot-Marie-Tooth disease, type /H(CMT/H)
Charcot-Marie-Tooth disease, type /J(CMT/J)
Slowed nerve conduction velocity,
autosomal dominant
Neuropathy, congenital hypomyelinating(CHN)
Neuropathy, congenital hypomyelinating(CHN)
Giant axonal neuropathy '(GAN')/., XY gonadal dysgenesis, complete orpartial, DHH-related
Hereditary neuropathy with liability topressure palsies(HNPP)
Peripheral neuropathy and sensorineural
hearing impairment
Congenital cataracts facial dysmorphism
neuropathy syndrome(CCFDN)#.('05+

AR

''q++

MTMR2

*.(/).0

AR

''p')

SBF2

#.(')2.

AR)q0+

SH3TC2#.('/))

AR

5q+/.0NDRG1SH0 domain and tetratricopeptide
repeats +N-myc downstream regulated '#'/)2((

AR'2q'0.'0-'0.+

PRX

Periaxin*.()3+) Hum Mol Genet  : /')-/+', +(('#.(20''

AR'+p''.+

FGD4*.'''(/ Am J Hum Genet  : '-'. & ')5-'./, +((3#.''++5

AR

.q+'

FIG4

FYVE, RhoGEF, and PH doamincontaining protein /FIG/ homolog(S. cerevisiae)#.(5+0.

AD

5p+0#.()+)0AD'q++-q+0#.()+)0AR'(q+'.'-q++.'

EGR2

Early growth response +*'+2('( Nat Genet  : )0-)), '225#+).5)(#+00/+(

AR
AR'.q+/.''+q'0.'GAN
DHH*.()032 Nat Genet  : 03(-03/, +(((*.()/+0 Am J Hum Genet  : '0(+-'0(), +(((#'.+)((

AD'3p''.+

PMP22

Gigaxonin
Desert hedgehog homolog(Drosophila)
Peripheral myelin protein ++#.(/'.5

遺伝形式
染色体座
遺伝子記号
AD
'(q+'.'-q++.'
EGR2

遺伝子名
Early growth response +文献
MIM*'+2('( Neurology  : '5+3-'50+, '222

疾患名Hypertrophic neuropathy of DejerineSottas(HMSN0)
Charcot-Marie-Tooth disease, type /A(CMT/A)

Ganglioside-induced
diﬀerentiation-associatedprotein 'Myotubularin related protein +*.(.)25 Nat Genet  : +'-++, +((+

SET binding factor +*.(3.23 Am J Hum Genet  : ''/'-'')0, +((0Hum Mol Genet  : 0/2-0)., +((0*.(5+(. Am J Hum Genet  : ''(.-'''2, +((0ARHGEF10 RHO guanine nucleotide
exchange factor(GEF)'(
MPZ
Myelin protein zeroAD'p0).'

GJB3

AR'5q+0-qter

CTDP1

Navajo neurohepatopathy(NN)#+).5'(

AR+p+0-p+'

MPV17

Indiﬀerence to pain, congenital, autosomal
recessive
Paroxysmal extreme pain disorder#+/0(((

AR

+q+/

SCN9A

#'.3/((

AR

+q+/

SCN9A

*.(0))3 Nat Genet  : '3-'2, +(((*.()+.+ Am J Hum Genet  : /3-)5, +(((*.(202( Nature  : .5-3+, +((3*.(5'0. Am J Hum Genet  : 2+.-20+, +((0*')2//( Neuron  : /)'-/.(, '22.

*.('(23 Cell  : '/0-')', '220

Gap junction protein, beta 0,＋.(00+/
0'kDa(connexin 0')
CTD(carboxy-terminal domain,*.(/2+3
RNA polymerase II, polypeptideA)phosphatase, subunit 'MpV'3 mitochondrial inner*'032.(
membrane protein
Sodium channel, voltage-gated,*.(0/')
type IX, alpha subunit
Sodium channel, voltage-gated,*.(0/')
type IX, alpha subunit

Hum Mol Genet  : 2/3-2)+
Nat Genet  : '5)-'52, +((0Nat Genet  : )3(-)3), +((.
Nature  : 52/-525, +((.
Neuron  : 3.3-33/, +((.

遺伝性感覚・自律神経ニューロパチー
Neuropathy, hereditary sensory andautonomic, type I(HSAN' ; HSN')
Neuropathy, hereditary sensory andautonomic, type II(HSAN+ ; HSN+)
Neuropathy, hereditary sensory andautonomic, type III(HSAN0 ; Riley-Day
syndrome, DYS)
Insensitivity to pain, congenital, withanhidrosis(CIPA ; HSAN/)
Neuropathy, hereditary sensory andautonomic, type V(HSAN))#'.+/((AD

2q++

SPTLC1#+('0((

AR'+p'0.00

WNK1#++02((AR

2q0'

IKBKAP#+).5((

AR'q+'-q++NTRK1#.(5.)/

AR'p'0.'NGF

Serine palmitoyltransferase, long
chain base subunit 'WNK lysine deﬁcient protein
kinase 'Inhibitor of kappa light chain
polypeptide gene enhancer in
B-cells, kinase complexassociated protein
Neurotrophic tyrosine kinase,
receptor, type 'Nerve growth factor(betapolypeptide)*.()3'+ Nat Genet  : +.'-+.+, +(('*.()+0+ Am J Hum Genet  : '(./-'(30, +((/*.(03++ Am J Hum Genet  : )25-.(), +(('*'2'0') Nat Genet  : /5)-/55, '22.
*'.+(0( Hum Mol Genet  : 322-5(), +((/

アミロイド・ニューロパチー
Amyloidosis I＋'3.0((

AD'5q''.+-q'+.'TTR

Amyloid polyneuropathy-nephropathy,
Iowa type(Amyloidosis, van Allen type,
Amyloidosis IV, formerly)
Amyloidosis, Finnish type(Amyloidosis V,
Lattice corneal dystrophy, type II)
Amyloidosis, primary cutaneous*'(3.5(

AD

''q+0

APOA1

Transthyretin(prealbumin,amyloidosis type I)
Apolipoprotein A-I,＋'3.0(( Biochem Biophy Res Commun  : 2+'-2+5,'25/*'(3.5( Genomics  : 0'5-0+0, '22(#'()'+(

AD

2q0/

GSN

#'()+)(

AD)p'0.'

Gelsolin(amyloidosis, Finnish
type)
Oncostatin M receptor*'030)( New Engl J Med  : '35(-'35), '22'

OSMR#'.+'((

AD

'3q+)

SEPT9

Septin 2*.(/(.' Nat Genet  : '(//-'(/., +(()

#0'(+((#0((03.
#')2(((

XR

Xp+'.+DMD

Dystrophin*0((033 Nature  : ./.-.)(, '25.

XR
AD

Xp+'.+
)q0'

DMD
MYOT

Dystrophin
Myotilin*0((033*.(/'(0 Hum Mol Genet: +'/'-+'/3, +(((#')2(('

AD'q+'.+LMNA

Lamin A/C*')(00( Hum Mol Genet: '/)0-'/)2, +(((#.(35('

AD

0p+)

CAV3

Caveolin 0#+)0.((

AR')q').'-q+'.'CAPN3

Calpain 0,(p2/)*.('+)0 Nature Genet  : 0.)-0.5, '225
Hum Mol Genet  : 53'-533, '225*''/+/( Cell  : +3-/(, '22)#+)0.('

AR+p'0.0-p'0.'

DYSF

Muscular dystrophy, limb-girdle, type +C(LGMD+C)#+)03((

AR

'0q'+

SGCG

Muscular dystrophy, limb-girdle, type +D(LGMD+D)#.(5(22AR'3q'+-q+'.00

SGCA

Muscular dystrophy, limb-girdle, type +E(LGMD+E)#.(/+5.

AR

/q'+

SGCB

Dysferlin, limb girdle muscular
dystrophy +B(autosomal
recessive)
Sarcoglycan, gamma(0)kDa
dystrophin-associatedglycoprotein)
Sarcoglycan, alpha()(kDa
dystrophin-associatedglycoprotein)
Sarcoglycan, beta(/0kDa
dystrophin-associatedglycoprotein)*.('3/0 Am J Hum Genet  : 30-5(, +((5その他
Amyotrophy, hereditary neuralgic(HNA)
筋肉疾患
筋ジストロフィー関連疾患
Muscular dystrophy, Duchenne types(DMD)
Muscular dystrophy, Becker type(BMD)
Muscular dystrophy, limb-girdle, type 'A(LGMD'A)
Muscular dystrophy, limb-girdle, type 'B(LGMD'B)
Muscular dystrophy, limb-girdle, type 'C(LGMD'C)
Muscular dystrophy, limb-girdle, type +A(LGMD+A)
Muscular dystrophy, limb-girdle, type +B(LGMD+B)*.(0((2 Nat Genet  : 03-/+, '225*.(552. Science  : 5'2-5+', '22)*.((''2 Cell  : .+)-.00, '22/*.((2(( Nat Genet  : +)3-+.), '22)
Nat Genet  : +..-+30, '22)

疾患遺伝子一覧
疾患

遺伝子
染色体座
)q00

遺伝子記号
SGCD

文献
MIM
*.('/'' Nat Genet  : '2)-'25, '22.

疾患名Muscular dystrophy, limb-girdle, type +F(LGMD+F)

MIM#.('+53

遺伝形式
AR

Muscular dystrophy, limb-girdle, type +G(LGMD+G)
Muscular dystrophy, limb-girdle, type +H(LGMD+H)
Muscular dystrophy, limb-girdle, type +I(LGMD+I)
Muscular dystrophy, limb-girdle, type +J(LGMD+J)
Muscular dystrophy, limb-girdle, type +K(LGMD+K)
Muscular dystrophy, limb-girdle, type +M(LGMD+M)
Miyoshi(三好)myopathy(MM)#.('2)/

AR

'3q'+

TCAP

遺伝子名
Sarcoglycan, delta(0)kDa
dystrophin-associatedglycoprotein)
Titin-cap(telethonin)#+)/''(

AR

2q0'-q0/.'

TRIM32

Tripartite motof-containong 0+*.(++2( Am J Hum Genet  : ..0-.3+, +((+#.(3'))

AR'2q'0.0

FKRP

Fukutin-related protein*.(.)2. Hum Mol Genet  : +5)'-+5)2, +(('#.(55(3

AR

+q0'

TTN

Titin

＋'555/( Am J Hum Genet  : /2+-)((, +((+#.(20(5AR

2q0/.'

POMT1

Protein-O-mannosyltransferase '*.(3/+0 Neuromusc Disord  : +3'-+3), +(()#.'')55

AR

2q0'

FCMD

Fukutin*.(3//( Ann Neurol  : .(0-.'(, +((.

#+)/'0(AR+p'0.0-p'0.'

DYSF*.(0((2 Nat Genet  : 0'-0., '225

Oculopharyngeal muscular dystrophy(OPMD)
Emery-Dreifuss muscular dystrophy, Xlinked(EDMD)
Emery-Dreifuss muscular dystrophy,
autosomal dominant(EDMD+)
Emery-Dreifuss muscular dystrophy,
autosomal recessive(EDMD0)
Epidermolysis bullosa simplex and limbgirdle muscular dystrophy(MD-EBS)
Facioscapulohumeral muscular dystrophy'A(FSHMD'A)
Muscular dystrophy, congenital merosindeﬁcient, 'A(MDC'A)
Muscular dystrophy, congenital, 'C(MDC'C)
Muscular dystrophy, congenital, type 'D(MDC'D)
Rigid spine muscular dystrophy '(RSMD')
Fukuyama(福山)congenital muscular
dystrophy(FCMD)
Walker-Warburg syndrome(WWS)
Muscle-eye-brain disease(MEB)#'./0((

AD'/q''.+-q'0

PABPN1

Dysferlin, limb girdle muscular
dystrophy +B(autosomal
recessive)
Poly(A)binding protein, nuclear '#0'(0((

XR

Xq+5

EMD

Emerin*0((05/ Nat Genet  : 0+0-0+3, '22/#'5'0)(

AD'q+'.+-q+'.0

LMNA

Lamin A/C*')(00( Nat Genet  : +5)-+55, '222*.(//55 Nat Genet  : '.0-'.., +(((*.(++32 Nat Genet  : './-'.3, '225#.(/2+2AR'q+'.+-q+'.0

LMNA

Lamin A/C*')(00( Am J Hum Genet  : '/(3-'/'+, +(((#++..3(

AR

5q+/

PLEC1

#')52((

AD

/q0)

D4Z4

#.(35))

AR.q++-q+0

LAMA2

Plectin ', intermediate ﬁlamentbinding protein, )((kDa(DUX4 ; Double homeobox
protein /)Laminin, alpha +*.('+5+ Nat Genet  : /)(-/)3, '22.
Hum Mol Genet : ')02-')/., '22.
*.(.((2 Nat Genet  : +.-0(, '22+
Hum Mol Genet  : '+53-'+2), '22/*').++) Nat Genet  : +'.-+'5, '22)#.(..'+

AR'2q'0.0

FKRP

Fukutin-related protein*.(.)2. Am J Hum Genet  : ''25-'+(2, +(('#.(55/(AR++q'+.0-q'0.'

LARGE

Like-glycosyltransferase*.(0)2( Hum Mol Genet  : +5)0-+5.', +((0#.(+33'AR'p0..'0

SEPN1

Selenoprotein N, '*.(.+'( Nat Genet  : '3-'5, +(('#+)05((

AR

2q0'

FCMD

Fukutin*.(3//( Nature   : 055-02+, '225#+0..3(#+)0+5(AR
AR

2q0/.''p0+-p00

POMT1
POMGNT1#.(.(3+

AD

0p+)

CAV3

Protein-O-mannosyltransferase ' *.(3/+0 Am J Hum Genet  : '(00-'(/0, +((+
Protein O-mannose beta-', +-N*.(.5++ Dev Cell  : 3'3'-3+/, +(('
acetylglucosamyltransferase
Caveolin 0＋.('+)0 Nat Genet  : +'5-+'2, +(('#.((00/AD+q+/.0TTN

Titin＋'555/( Am J Hum Genet  : /2+-)((, +((+

Muscle hypertrophy
Congenital myopathy
Bethlem myopathy
Bethlem myopathy
Bethlem myopathy
Ullrich congenital muscular dystrophy(UCMD)
Ullrich congenital muscular dystrophy(UCMD)
Ullrich congenital muscular dystrophy(UCMD)
Barth syndrome(BTHS)＋.('355

AD
AR
AD
AD
AD
AR

+q0+.''+q'0+'q++.0+'q++.0+q03+'q++.0

MSTN
ITGA7
COL6A1
COL6A2
COL6A3
COL6A1

Myostatin
Integrin, alpha 3
Collagen, type VI, alpha 'Collagen, type VI, alpha +Collagen, type VI, alpha 0Collagen, type VI, alpha '＋.('355*.(()0.
*'+(++(*'+(+/(*'+(+)(*'+(++(*'+(+/( Proc Natl Acd Sci  : 3)'.-3)+', +(('Ann Neurol: +.'-+.), +(('*'+(+)( Am J Hum Genet  : '//.-'/)5, +((+

Nemaline myopathy, '(NEM')
Nemaline myopathy, +(NEM+)
Nemaline myopathy, 0(NEM0)
Nemaline myopathy, /(NEM/, CAP
myopathy)
Nemaline myopathy, )(NEM))
Nemaline myopathy, 3(NEM3)
Myopathy, congenital, with ﬁber-type
disproportion(CFTD)
Central core disease of muscle(CCD)

Hereditary rippling muscle disease(RMD)
Tibial muscular dystrophy, tardive(TMD)
先天性ミオパチー・その他のミオパチー

Myotubular myopathy '(MTM')
Myopathy, centronuclear, autosomal
dominant
Myopathy, centronuclar, autosomal
recessive
Myopathy, myoﬁbrillar, desmin-related
Alpha-b crystallinopathy
Filaminopathy, autosomal dominant
Myoneurogastrointestinal
encephalomyopathy syndrome(MNGIE)
Hereditary inclusion body myopathy +(IBM+)
Inclusion body myopathy 0, autosomal
dominant(IBM0)
Inclusion body myopathy with earlyonset Paget disease and frontotemporaldementia(IBMPED)#')55'(#')55'(#')55'(#+)/(2(#+)/(2(AR+'q++.0

COL6A2

Collagen, type VI, alpha +#+)/(2(

AR+q03

COL6A3Collagen, type VI, alpha 0#0(+(.(

XR

Xq+5

TAZ

#.(2+5/#+).(0(#'.'5((#.(2+5)

AD
AR
AD
AD

'q++-q+0+q++'q/+.'
2p'0.+-p'0.'

TPM3
NEB
ACTA1
TPM2

Tafazzin〔cardiomyopathy, dilated *0((02/0A(X-linked); endocardial
ﬁbloelastosis + ; Barth syndrome〕
Toropmyosin 0*'2'(0(
Nebulin*'.'.)(
Actin, alpha ', skeletal muscle＋'(+.'(
Tropomyosin +(beta)*'2(22(#.()0))#.'(.53#+))0'(#''3(((

AR
AR
AR
AR
AD

'2q'0./'/q'+'q/+.''p0..'0'2q'0.'

TNNT1
CFL2
ACTA1
SEPN1
RYR1

Troponin T'(skeletal, slow)
Coﬁlin +(muscle)
Actin, alpha ', skeletal muscle
Selenoprotein N, 'Ryanodine receptor '(skeletal)#0'(/((#'.(')(

XR
AD

Xq+5
'2p'0.+MTM1
DNM2

Myotubularin 'Dynamin +

AR

+q'/

BIN1

Bridging Integrator '(Amphiphysin +)DesminCrystallin, alpha B
Filamin C
thymidine phosphorylase#+))+((#.('/'2#.('/'2#.(2)+/#.(0(/'#.((303

AD/AR
+q0)
AD
''q++.0-q+0.'
AD
3q0+.'
AR
++q'0

AR

DES
CRYAB
FLNC
TYMP

2p'+-p'0

GNE#.().03

AD'3p'0.'

MYH2#'.30+(

AD

2p+'.'-p'+

VCP

Glucosamine(UDP-N-acetyl)-+epimerase/Nacetylmannosamine kinase
Myosin, heavy chain +, skeletal
muscle, adult
Valosin-containing protein

New Engl J Med  : +.5+-+.55, +((/Nat Genet  : 2/-23, '225
Nat Genet  : ''0-''), '22.
Nat Genet  : ''0-''), '22.
Hum Mol Genet  : 5(3-5'+, '225
Am J Hum Genet  : 0))-0.2, +((0Nat Genet  : 05)-022, '22.

Nat Genet : 3)-32, '22)
Proc Natl Acd Sci  : +0()-+0'(, '222
Nat Genet  : +(5-+'+, '222
Neuromusc Disord  : ')'-')5, +((+*'2'(/'*.('//0＋'(+.'(*.(.+'(*'5(2('Am J Hum Genet  : 5'/-5+', +(((Am J Hum Genet  : '.+-'.3, +((3Ann Neurol  : .52-.2/, +((/Ann Neurol: )/.-))+, +((.
Nat Genet : /.-)(, '220
Nat Genet : )'-)), '220*0'(/') Nat Genet  : '3)-'5+, '22.
*.(+035 Nat Genet  : '+(3-'+(2, +(()*.('+/5 Nat Genet  : ''0/-''02, +((3*'+)..(＋'+0)2(*'(+).)*'0'+++Nat Genet  : /(+-/(0, '225
Nat Genet  : 2+-2), '225
Am J Hum Genet  : +23-0(/, +(()
Science  : .52-.2+, '222*.(05+/ Nat Genet  : 50-53, +(('*'.(3/( Proc Natl Acad Sci  : '/.'/-'/.'2, +(((*.('(+0 Nat Genet  : 033-05', +((/





疾患遺伝子一覧
疾患
疾患名

Myopathy, myosin storage

遺伝子
遺伝子名

文献

MIM

遺伝形式

染色体座

遺伝子記号

#.(50)5

AD

'/q'+

MYH7

Myosin, heavy polypeptide 3,
cardiac muscle, beta

MIM#'/).((

AD'2q'0.'RYR1

Ryanodine receptor '(skeletal)*'5(2(' Genomics  : 3)'-3)),' 22'#.('553

AD'q0+

CACNA1S

Calcium channel, voltage-dependent,
L type, alpha 'S subunit*''/+(5 Am J Hum Genet  : '0'.-'0+), '223#'.(2((

AD'2q'0.+-q'0.0

DMPK

Dystrophia myotonica-protein
kinase

CCHC-type zinc ﬁnger, nucleic
acid binding protein
Chloride channel ', skeletal
muscle(Thomsen disease,autosomal dominant)Chloride channel ', skeletal
muscle(Thomsen disease,autosomal dominant)Sodium channel, voltage-gated,
type IV, alpha polypeptide
Heparan sulfate proteoglycan +(perlecan)
Leukemia inhibitory factor
receptor alpha*.()033 Nature  : )/)-)/., '22+
Nature  : )/3-)/5, '22+
Nature  : )/5-))', '22+
Science  : '+).-'+)5, '22+
Cell  : 322-5(5, '22+*''.2)) Science   : 5./-5.3, +(('＋'.(3.( Ann Neurol  : /2/-)((, +((0Neurology  : ')'2-')+0, +((0悪性高熱症候群
Malignant hyperthermia susceptibility '(MHS')
Malignant hyperthermia susceptibility )(MHS))筋強直(ミオトニー)性疾患・その他
Dystrophia myotonica(DM, Steinert
disease)Myotonic dystrophy type +(DM+)#.(+..5

AD

0q'0.0-q+/

CNBP

Autosomal dominant myotonia congenita(Thomsen’s disease)#'.(5((

AD

3q0)

CLCN1

Autosomal recessive myotonia congenita(MCR, Becker disease, Generalized
myotonia)
Paramyotonia congenita of von Eulenburg(PMC)
Schwartz-Jampel syndrome, type '(SJS',
chondrodystrophic myotonia)
Schwartz-Jampel syndrome, type +(SJS+)/Stüve-Wiedermann syndrome(SWS)
Crisponi syndrome#+))3((

AR

3q0)

CLCN1

#'.50((

AD'3q+0.'-q+).0

SCN4A#+))5((

AR'p0..'-p0)HSPG2#.('))2

AR)p'0.'

LIFR#.('035

AR

'2p'+

CRLF1

Cytokine receptor-like factor '*.(/+03 Am J Hum Genet  : 23'-25', +((3#.('/.+

AD+q+/-q0+

CHRNA1

Cholinergic receptor, nicotinic,alpha polypeptide '(muscle)*'((.2( Neuron  : ++2-+02, '22)#.('/.+

AD'3p'+-p''CHRNB1

Cholinergic receptor, nicotinic,
beta polypeptide '(muscle)*'((3'( Ann Neurol  : 3'+-3+0, '22.
Hum Mol Genet : '+'3-'++3, '22.

Cholinergic receptor, nicotinic,
delta polypeptide
Cholinergic receptor, nicotinic,
epsilon polypeptide*'((3+( Ann Neurol  : '(+-''+, +((+*''5/+) Nat Genet  : 0()-0(2, '220*''5/+) Science   : 323-5((, '22+＋.(02.3 Nat Genet  : '/5-')+, '22+*'/+/.' Nat Genet  : /5(-/50, +(((*')'//0 J Hum Genet  : +25-0(), +((/

先天性筋無力症
Slow-channel congenital myasthenic
syndrome(SCCMG, Cingenital
myasthenic syndrome, type II)
Slow-channel congenital myasthenic
syndrome(SCCMG, Cingenital
myasthenic syndrome, type II)
Slow-channel congenital mysthenic
syndrome(SCCMS)
Slow-channel congenital myasthenic
syndrome(SCCMG, Cingenital
myasthenic syndrome, type II)
Fast-channel myasthenic syndrome andarthrogryposis multiplex congenita
Endplate acetylcholinesterase deﬁciency(EAD, Congenital myasthenic
syndrome, type Ic)
Congenital myasthenic syndrome causedby sodium channel SCN/A
Congenital myasthenic syndrome
Myasthenia, limb-girdle, familial#.('/.+

AR+q00-q0/

CHRND#.('/.+

AD'3p'0-p'+

CHRNE#.(520(AR+q00-q0/

CHRND#.(0(0/AR

0p+/.+

COLQ＋.(02.3

AR/AD '3q+0.'-q+).0

SCN4A*'((3+) Proc Natl Acad Sci  : 3)5-3.+, '22)

Cholinergic receptor, nicotinic,*'((3+(
delta polypeptide
Collagen-like tail subunit(single*.(0(00
strand of homotrimer)of
asymmetric acethylcholinesterase
Sodium channel, voltage-gated,＋.(02.3
type IV, alpha subunit
Muscle, skeletal, receptor tyrosine *.('+2.
kinaseDocking protein 3*.'(+5)J Clin Invest   : '+)-'0(. +(('Am J Hum Genet  : 2.3-23), '225

Proc Natl Acad Sci : 3033-305+, +((0#.(520'AR

2q0'.0-q0+

MUSK

Hum Mol Genet  : 0++2-0+/(, +((/#+)/0((

AR/p'..+

DOK7#'0)3((AD'+q'+

KIF+'A

Kinesin family member +'A*.(5+50 Nat Genet  : 0'5-0+',+((0#.(+(35AR''q'0.+PHOX2A

Paired-like(aristaless)homeobox+a
Chromosome '( open reading
frame +Polymerase(DNA directed),
gamma
Sal-like /(Drosophila)*.(+3)0 Nat Genet  : 0')-0+(, +(('

Science  : '23)-'235, +((.

眼筋ミオパチー・眼筋麻痺
Congenital ﬁbrosis of the extraocular
muscles type'(CFEOM')
Congenital ﬁbrosis of the extraocular
muscles type +(CFEOM+)
Progressive external ophthalmoplegia(PEO)
Progressive external ophthalmoplegia(PEO)
Duane-radial ray syndrome(DRRS,
Okihiro syndrome)#.(2+5.

AD'(q+/

C10orf2#')3./(

AD, AR

')q+/

POLG

#.(30+0

AD+(q'0.'0-q'0.+

SALL4

Periodic paralysis I(Hypokalemic periodic
paralysis, HOKPP)#'3(/((AD'q0+

CACNA1S

Hypokalrmic periodic paralysis(HOKPP)#'3(/((

AD''q'0-q'/

KCNE3

Hypokalemic periodic paralysis type +#'3(/((

AD'3q+0.'-q+).0

SCN4A

Periodic paralysis II(Hyperkalemic
periodic paralysis, HYPP, Gamstorp
disease)Andersen’s syndrome#'3()((

AD'3q+0.'-q+).0

SCN4A#'3(02(

AD

'3q+0

KCNJ2

Alternating hemiplegia of childhood#'(/+2(AD'q+'-q+0

ATP1A2#'/')((AD'2p'0

CACNA1A*.(.(3) Nat Genet  : ++0-+0', +(('*'3/3.0 Nat Genet  : +''-+'+, +(('*.(30/0 Am J Hum Genet  : ''2)-''22, +((+Hum Mol Genet  : +232-+253, +((+

発作性・周期性疾患
周期性四肢麻痺Calcium channel, voltage*''/+(5dependent, L type, alpha 'S
subunitPotassium voltage-gated channel, *.(//00
Isk-related family, member 0
Sodium channel, voltage-gated,＋.(02.3
type IV, alpha subunit
Sodium channel, voltage-gated,＋.(02.3
type IV, alpha subunit
Potassium inwardly-rectifying
channel, subfamily J, number +ATPase, Na ＋/K ＋ transporting,alpha +(＋)polypeptide

Cell  : 5.0-5.5, '22/

Cell   : +'3-+0', +(('
Neurology  : '20+-'20., '222
Cell  : '(+'-'(+3, '22'
Nature   : 053-052, '22'*.((.5' Cell : )''-)'2, +(('*'5+0/( Ann Neurol: 55/-553, +((/

片(偏)頭痛Familial hemiplegic migraine '(FHM',
MHP')
Familial hemiplegic migraine +(FHM+)#.(+/5'AD'q+'-q+0

ATP1A2

Familial hemiplegic migraine 0(FHM0)#.(2.0/

AD

+q+/

SCN1A

#'(5)((AD'2p'0

CACNA1A

Calcium channel, voltagedependent, P/Q type, alpha 'A
subunitATPase, Na ＋/K ＋ transporting,alpha +(＋)polypeptide
Sodium channel, voltage-gated,
type I, alpha subunit*.('('' Cell  : )/0-))+, '22.

*'5+0/( Nat Genet  : '2+-'2., +((0*'5+052 Lancet  : 03'-033, +(()

周期性(発作性)失調症
Episodic ataxia, type +(EA+)

Calcium channel, voltagedependent, P/Q type, alpha 'A
subunit*.('('' Cell  : )/0-))+, '22.

疾患遺伝子一覧
疾患

遺伝子

文献

疾患名

MIM

遺伝形式

染色体座

遺伝子記号

遺伝子名

Myokymia with periodic ataxia(Episodic
ataxia type ', EA')#'.('+(

AD

'+p'0

KCNA1

Porassium voltage-gated channel,
shaker-related subfamily,
member '(episodic ataxia withmyokymia)*'3.+.( Nat Genet  : '0.-'/(, '22/

MIM#'/2/((

AD

)q0+

GLRA1

Glycine receptor, alpha '*'05/2' Nat Genet#'/2/((#'/2/((

ADAD/q0'.0''p').+-p').'GLRB
SLC6A5Glycine receptor, beta
Solute carrier family ., member )*'05/2+ Hum Mol Genet  : 5)0-5.(, +((+*.(/')2 Nat Genet  : 5('-5(., +((.

Nocturnal frontal lobe epilepsy, type '(ENFL')
Autosomal dominant nocturnal frontal
lobe epilepsy type 0(ENFL0)
Benign neonatal epilepsy '(EBN')#.(()'0

AD+(q'0.+-q'0.0

CHRNA4AD'p+'

CHRNB2#'+'+((

AD+(q'0.0

KCNQ2

Benign neonatal epilepsy +(EBN+)#'+'+('

AD

5q+/

KCNQ3

Familial febrile convulsions /(FEB/)
Myokymia and neonatal epilepsy#.(/0)+#.(./03

AD
AD

)q'/
+(q'0.0

GPR98
KCNQ2

Generalized epilepsy with febrile seizuresplus(GEFS ＋)
Generalized epilepsy with febrile seizuresplus, type +(GEFSP+)
Generalized epilepsy with febrile seizuresplus(GEFS ＋type 0)/Childhood absence
epilepsy and febrile seizures
Febrile seizures associated with afebrile
seizures
Autosomal dominant partial epilepsy withauditory features
Epilepsy, childhood absence, '(ECA')
Epilepsy, juvenile absence, '(JCA')
Epilepsy, juvenile myoclonic(JME)
Epilepsy with grand mal seizures on
awakening(EGMA)
Generalized epilepsy and paroxysmal
dyskinesia#.(/+00

AD

'2q'0

SCN1B

#.(/+00

AD

+q+/

SCN1A

#.(/+00

AD)q0/

GABRG2Cholinergic receptor, nicotinic,alpha /
Cholinergic receptor, nicotinic,bata +(neuronal)
Potassium voltage-gated channel,
KQT-like subfamily, member +Potassium voltage-gated channel,
KQT-like subfamily, member 0
G protein-coupled receptor 25
Potassium voltage-gated channel,
KQT-like subfamily, member +Sodium channel, voltage-gated,
type I, beta
Sodium channel, voltage-gated,
type I, alpha subunit
Gamma-aminobutylic acid
(GABA)A receptor, gamma +*''5)(/ Nat Genet  : +('-+(0, '22)#.()03)#.(33/)

AD+q++-q+0

SCN2A1
LGI1

驚愕病
Kok disease(hyperekplexia ; startledisease)Hyperkplexia
Hyperekplexia, hereditary: 0)'-0)5, '220

てんかん

Sodium channel, voltage-gated,
type II, alpha ' polypeptide
Leucine-rich, glioma inactivated '*''5)(3 Nat Genet  : +3)-+3., +(((*.(++0) Science  : /(0-/(., '225
Nat Genet  : +)-+2, '225*.(++0+ Nat Genet  : )0-)), '225*.(+5)' Ann Neurol  : .)/-.)3, +((+*.(++0) Proc Natl Acad Sci  : '++3+-'++33, +(('*.((+0) Nat Genet  : 0..-03(, '225*'5+052 Nat Genet  : 0/0-/)., +(((*'03'./ Nat Genet  : /.-/5, +(('Nat Genet  : /2-)+, +(('*'5+02( Proc Natl Acad Sci  : .05/-.052, +(('#.(()'+

AD'(q+/%.(('0'#.(3.0'#.(.2(/#.(3.+5

AD
AD
AD
AD

5q+/
0q+.-qter
0q+.-qter

CLCN2
CLCN2

#.(2//.

AD'(q++.0

KCNMA1

Amish infantile epilepsy syndrome
Epileptic encephalopathy, early infantile, '#.(2().
#0(50)(AR
XR+p''.+
Xp++.'0

SIAT9
ARX

Potassium channel, calciumactivated, large conductance,
subfamily M, alpha member 'Sialyltransferase 2
Aristaless related homeobox

Myoclonus epilepsy of Unverricht andLundborg(EPM')
Progressive myoclonus epilepsy +(EPM+A, Lafora disease)
Lafora disease
Epilepsy, progressive myoclonic(EPM0)#+)/5((

AR+'q++.0

CSTB

Cystatin B(steﬁn B)#+)/35(

AR

.q+/

EPM2A

#+)/35(#.''3+.

AR
AR.p++.03q''.+'

NHLRC1KCTD7Myoclonic epilepsy, juvenile, '(EJM')#+)/33(AR.p'+-p''

EFHC1

Juvenile myoclonic epilepsy#.(.2(/

AD+q++-q+0

CACNB4

Juvenile myoclonic epilepsy#.(.2(/

AD)q0/-q0)

GABRA1

Epilepsy, progressive myoclonus+, Lafora disease(laforin)
NHL repeat containing 'Potassium channel
tetramerisation domain
containing 3
EF hand domain(C-terminal)containing 'Calcium channel, voltagedependent, beta / subunit
Gamma-aminobutyric acid
(GABA)A receptor, alpha '#+/2'((

AR

'.p'0

MEFV

Mediterranean fever*.(5'(3 Cell
: 323-5(3, '223
Nat Genet  : +)-0', '223

Wolfram syndrome(WFS, Diabetes
inspidus and mellitus with optic
atrophy and deafness)
Wolfram syndrome +#+++0((

AR/p'..'

WFS1

Wolfram syndrome '(wolframin)*.(.+(' Nat Genet  : '/0-'/5, '225
Hum Mol Genet  : +(+'-+(+5, '225#.(/2+5AR/q++-q+/

CISD2

Kallmann syndrome '(KAL')＋0(53((

XR

Xp++.0

KAL1

Kallmann syndrome +(KAL+)#'/32)(

AD

5p''.+-p''.'

FGFR1

Familial advanced sleep phase syndrome(FASPS)
Congenital failure of autonomic control(Ondine cruse, Congenital central
hypoventilation syndrome, CCHS)
Congenital failure of autonomic control(Ondine cruse ; Congenital central
hypoventilation syndrome, CCHS)
Congenital failure of autonomic control(Ondine cruse ; Congenital central
hypoventilation syndrome, CCHS)
Congenital central hypoventilation
syndrome
Pitt-Hopkins Syndrome#.(/0/5

AD+q03.0PER2#+(255(AR+(q'0.+-q'0.0

EDN3

CDGSH iron sulfur domain protein *.'')(3 Am J Hum Genet  : .30-.5/, +((3+Kallmann syndrome ' sequence＋0(53(( New Engl J Med  : '3)+-'3)), '22+
Proc Nat Acad Sci  : 5'2(-5'2/, '22+
Fibroblast growth factor receptor *'0.0)( Nat Genet  : /.0-/.), +((0'(fms-related tyrosine kinase +,Pfeiﬀer syndrome)
Period homolog +(Drosophila)*.(0/+. Science   : '(/(-'(/0, +(('[KIAA(0/3]
Am J Hum Genet  : 3)0-3)5, +(('
Endothelin 0*'0'+/+ Nat Genet  : 02)-02., '22.

#+(255(AR'(q''.+RET

Ret proto-oncogene＋'./3.' Am J Hum Genet  : 3')-3'3, '225#+(255(AR)p'0.'-p'+GDNF

Glial cell derived neurotrophic
factor*.((503 Am J Hum Genet  : 3')-3'3, '225#+(255(de novo/p'+

PHOX2B

Paired-like homeobox +B*.(05)' Nat Genet  : /)2-/.', +((0#.'(2)/

AR'5q+'.'

TCF4

Transcription Factor /*.(++3+ Am J Hum Genet  : 255-220, +((3Am J Hum Genet  : 22/-'((', +((3Chloride channel +Chloride channel +*.(/.'2 Nat Genet  : 00)-0/', +((+Hum Mol Genet  : '''2-''+5, +((+*.(()3(*.(()3(

Nat Genet  : )+3-)0+, +((0(retracted)
Nat Genet  : 2)/-2)), +((2*.((')( Nat Genet  : 300-305, +(()*.(//(+ Nat Genet  : '++)-'++2, +((/
*0((05+ Nat Genet  : //'-//), +((+Hum Mol Genet  : 25'-22', +((+
Neurology: 0/5-0)., +((+*.(''/) Science  : '30'-'30/, '22.
*.(3).. Nat Genet  : 0)5-0.', '225*.(5(3+ Nat Genet  : '+)-'+3, +((0*.''3+) Ann Neurol  : )32-)5., +((3*.(55') Nat Genet  : 5/+-5/2, +((/＋.('2/2 Am J Hum Genet  : ')0'-'.02, +(((*'03'.( Nat Genet  : '5/-'52, +((+

その他
Familial Mediterranean fever(MEFV)
視床下部・自律神経障害・睡眠障害





疾患遺伝子一覧
疾患

疾患名
Hirschsprung disease associated withmicrocephaly, mental retardation,
hypertelorism, subcutaneous cleft
palate and short stature(MowatWilson syndrome)
Triple A syndrome
X-linked chronic idiopathic intestinal
pseudo-obstruction with central
nervous system involvement

遺伝子
遺伝子名
Survival of motor neuron protein
interracting protein '文献
MIM*.(+)2) Nat Genet  : 0.2-03(, +(('

MIM#+0)30(

遺伝形式
de novo

染色体座
+q++

遺伝子記号
SIP1

#+0'))(#0(((/5

AR
XR

'+q'0
Xq+5

AAAS
FLNA

AAAS gene
Filamin A*.()035 Poc Natl Acd Sci   : ++25-+0(0, +((.
*0((('3 Am J Hum Genet  : 3)'-3)5, +((3#.'(5+2

AD

+q'/

GLI2

GLI-Kruppel family member GLI+*'.)+0( Pro Natl Acad Sci #.(.5)/
AR#+.2'.( de novo/AD'.q'0'(q+..'

GPR56
EMX2

#')3'3( de novo/AD+p+'

中枢神経系の発生異常・奇形
Pituitary anomalies andholoprosencephaly-like features(HPE2)Polymicrogyria, bilateral frontoparietal
Schizencephaly
Holoprosencephaly +, alobar or semilobar(HPE+)
Holoprosencephaly 0(HPE0)#'/+2/)

AD

3q0.

Holoprosencephaly /(HPE/)#'/+2/.

de novo'5p''.0

Holoprosencephaly )(HPE))#.(2.03AD'0q0+

Miller-Dieker lissencephaly syndrome(MDLS)#+/3+((

AR'3p'0.0

Norman-Roberts type lissencephaly
syndrome
Lissencephaly, X-linked, +(LISX+)
Corpus callosum, agenesis of, withabnormal genitalia
X-linked lissencephaly/Double cortex
syndrome
Familial porencephaly
Autosomal recessive periventricular
heterotopia with microcephaly#+)30+(AR

3q++#0((+')#0((((/XR
XR

Xp++.'0
Xp++.'0#0(((.3

XD#'3)35(#.(5(23ADAR

G protein-coupled receptor ).
empty spiracle(Drosophila)
homolog +SIX3sine oculis homeobox(Drosophila)
homolog 0
SHHsonic hedgehog(Drosophila)
homolog
TGIF
TGFB-induced factor(TALE
family homeobox)
ZIC2
Zic family member +(odd-paired
Drosophila homolog)
PAFAH1B1 Platelet-activating factor
acetylhydrolase, isoform Ib,alpha subunit /)kD
RELN
Reelin: '0/+/-'0/+2, +((0*.(/''( Science   : +(00-+(0., +((/*.(((0) Nat Genet  : 2/-2., '22.
*.(03'/ Nat Genet  : '2.-'25, '222*.((3+) Nat Genet  : 0)0-0)., '22.
Nat Genet  : 0)3-0.(, '22.
*.(+.0( Nat Genet  : +()-+(5, +(((*.(0(30 Nat Genet  : '5(-'50, '225*.(')/) Nature  : 3'3-3+', '220
Nature  : +'.-+'5, '22/*.(()'/ Nat Genet  : 20-2., +(((

ARX
ARX

Aristaless related homeobax
Aristaless related homeobax*0((05+ Nat Genet  : 0)2-0.2, +((+
*0((05+ Hum Mutat  : '/3-')2, +((/

Xq++.0-q+0

DCX

'0q0/
+(q'0.'0

COL4A1
ARFGEF2

Doublecortex, lissencephaly, Xlinked(doublecortin)
Collagen, type IV, alpha-'
ADP-ribosylation factor guanine
nucleotide-exchange factor +(brefeldin A-inhibited)
Filamin A, alpha(actin-binding
protein-+5()
ADP-ribosylation factor guanine
nucleotide exchange factor +Contactin-associater protein-like +*0(('+' Cell  : )'-.', '225
Cell  : .0-3+, '225*'+('0( Science   : ''.3-''3', +(()*.()03' Nat Genet  : .2-3., +((/

Periventricular heterotopia#0(((/2

XD

Xq+5

FLNA

Heterotopia, periventricular, autosomal
recessive
Cortical dysplasia-focal epilepsy
syndrome
Hydrocephalus due to congenital stenosisof aqueduct of Sylvius(HSAS')
Knobloch syndrome(KNO)
Sotos syndrome#.(5(23AR+(q'0.'0

ARFGEF2#.'((/+

AR3q0)-q0.

CNTNAP2#0(3(((

XR

Xq+5

L1CAM

L' cell adhesion molecule*0(55/( Nat Genet  : '(3-''+, '22+#+.33)(#''3))(AR
Sporadic+'q++.0)q0)

COL18A1
NSD1*'+(0+5 Hum Mol Genet : +()'-+()5, +(((*.(..5' Nat Genet  : 0.)-0.., +((+

Primary autosomal recessive
microcephaly '(MCPH')
Primary autosomal recessive
microcephaly )(MCPH))#+)'+((

AR

5p+0

MCPH1

#.(53'.

AR

'q0'

ASPM

Seckel syndrome(SCKL')#+'(.((

AR

0q++.'-q+/

ATR

Bosley-Salih-Alorainy syndrome
Joubert syndrome 0
Joubert syndrome )#.(')0.
#.(5.+2#.'('55

ARARAR3p').0.q+0.0'+q+'.0

HOXA1
AHI1
CEP290Collagen, type XVIII, alpha 'Nuclear receptor binding SET
domain protein 'Microcephaly, primary autosomal
recessive 'Asp(abnormal spindle)-like,microcephaly associated(Drosophila)
Ataxia telangiectasia and Rad0
relatedHomeobox A'
Abelson helper integration site 'Centrosomal Protein, +2(-kD

Joubert syndrome 3#.'').(AR'.q'+.+RPGRIP1L

Pontocerebellar hypoplasia, type .
Dandy-Walker syndrome
Dandy-Walker syndrome
Diabetes mellitus, permanent neonatal,
with cerebellar agenesis
Warburg Micro syndrome 'Feingold syndrome#.'')+0#++(+((#++(+((#.(2(.2

ARde novode novo
AR.q'..'
0q+/
0q+/'(p'0-p'+.'

RARS2
ZIC1
ZIC4
PTF1A

#.((''5#'./+5(AR
AD+q+'.0+q+/.'RAB3GAP
MYCN

Cerebral dysgenesis, neuropathy,ichthyosis, and palmoplantar
keratoderma syndrome
Meckel syndrome, type 0
Meckel syndrome, type )Opitz-Kaveggia syndrome#.(2)+5AR++q''.+

SNAP29#.(30.'#.'').'#0()/)(

AR
AR
XR

5q+'.'0-q++.' TMEM67'.q'+.+RPGRIP1L
Xq'+-q+'.0'
MED12

Transmembrane Protein .3
RPGRIP'-LikeMediator of RNA polymerase IItranscription, subunit '+, S.
Cerevisiae, homolog of
Ubiquitin-protein ligase E0
component N-recognin 'son of sevenless, Drosophila,
homolog 'v-HS-ras harvey rat sarcoma
viral oncogene homologv-raf murine sarcoma viraloncogene homolog B'
v-KI-ras+ Kirsten rat sarcoma +viral oncogene homolog
Nippled-B-like

RPGRIP'-LikeArginyl-tRNA synthetase +Zinc ﬁnger protein of cerebellum, 'Zinc ﬁnger protein of cerebellum, /Pancreas transcription factor ',alpha subunit
RAB0 GTPase-activating protein
v-myc avian myelocytomatosis
viral-related oncogene,neuroblastoma-derived
Synaptosomal-associated protein,+2-kD*0((('3 Neuron  : '0')-'0+), '225*.()03' Nat Genet  : .2-3., +((/*.(/).2 New Engl J Med   : '03(-'033, +((.

*.(3''3 Am J Hum Genet  : '0.-'/+, +((+*.()/5' Nat Genet  : 0'.-0+(, +((+*.('+') Nat Genet  : /23-)(', +((0*'/+2)) Nat Genet  : '(0)-'(03, +(()*.(552/ Nat Genet  : '((5-'('0, +((/*.'('/+ Nat Genet  : .+0-.+), +((.
Nat Genet  : .3'-.5/, +((.
*.'(203 Nat Genet  : 53)-55', +((3Nat Genet  : 55+-555, +((3*.'')+/ Am J Hum Genet  : 5)3-5.+, +((3*.((/3( Nat Genet  : '()0-'()), +((/*.(52/5 Nat Genet  : '()0-'()), +((/*.(3'2/ Nat Genet  : '0('-'0(), +((/*.(+)0. Nat Genet  : ++'-++0, +(()*'./5/( Nat Genet  : /.)-/.3, +(()*.(/+(+ Am J Hum Genet  : +/+-+)', +(()*.(255/ Nat Genet  : '2'-'2., +((.
*.'(203 Nat Genet  : 53)-55', +((3*0(('55 Nat Genet  : /)'-/)0, +((3頭蓋・顔面・脊柱・その他の形成異常
Johanson-Blizzard syndrome#+/05((

AR')q')-q+'.'UBR1Noonan syndrome /#.'(300

AD+p++-p+'

SOS1

Costello syndrome#+'5(/(AD''p').)

HRAS

Cardio-facio-cutaneous syndrome#'')')(

AD

3q0/

BRAF

Cardio-facio-cutaneous syndrome#'')')(

AD'+p'+.'KRAS2

Cornelia de Lange syndrome#'++/3(AD)p'0.'

NIPBL*.()25' Nat Genet  : '0/)-'0)(, +(()*'5+)0( Nat Genet  : 3(-3/, +((3Nat Genet  : 3)-32, +((3*'2((+( Nat Genet  : '(05-'(/(, +(()*'./3)3 Nat Genet  : +2/-+2., +((.
*'2((3( Nat Genet  : +2/-+2., +((.
*.(5..3 Nat Genet  : .0'-.0), +((/Nat Genet  : .0.-./', +((/

疾患遺伝子一覧
疾患

遺伝子
遺伝形式
染色体座
遺伝子記号
XR
Xp''.++-p''.+'
SMC1A

遺伝子名
Structural maintenance ofchromosomes 'A
BCL-.-interacting corepressor

文献
MIM*0(((/( Nat Genet  : )+5-)0(, +((.

疾患名
Cornelia de Lange syndrome, X-linkedMIM#0(()2(

Microphthalmia with associatedanomalies +Oculofaciocardiodental syndrome
Vertical talus, congenital
Loeys-Dietz syndrome#0(('..

XD

Xp''./-p+'.+BCOR#0(('..
#'2+2)(#.(2'2+

XD
AD
AD

Xp''./+q0'-q0+
0q++

BCOR
HOXD10TGFBR2

Loeys-Dietz syndrome#.(2'2+AD

2q00-q0/

TGFBR1

Hydrolethalus syndrome
Cleidocranial dysplasia(CCD)
Crouzon syndrome(Craniofacial
dysostosis type I, CFD')
Jackson-Weiss syndrome
Apert syndrome(Acrocephalosyndactyly,
type I, ACS')
Saethre-Chotzen syndrome(SCS,
Acrocephalosyndactyly, type III, ACS0)
Saethre-Chotzen syndrome(SCS,
Acrocephalosyndactyly, type III, ACS0)
Pfeiﬀer syndrome(Acrocephalosyndactyly,
type V, ACS))
Pfeiﬀer syndrome(Acrocephalosyndactyly,
type V, ACS))
Antley-Bixler syndrome
Beare-Stevenson cutis gyrata syndrome
Greig cephalopolysyndactyly syndrome(GCPS)#+0..5(#''2.((#'+0)((AR
AD
AD''q+0-q+)
.p+'
'(q+.

HYLS1
RUNX2
FGFR2

BCL-.-interacting corepressor*0((/5)Homeobox D'(＋'/+25/
Transforming growth factor-beta ＋'2('5+receptor, type +Transforming growth factor-beta *'2('5'receptor, type 'Hydrolethalus syndrome '*.'(.20
Runt-related transcription factor + *.((+''
Fibroblast growth factor receptor + *'3.2/0#'+0')(#'('+((

AD
AD

'(q+.
'(q+.

FGFR2
FGFR2

Fibroblast growth factor receptor +Fibroblast growth factor receptor +*'3.2/0 Nat Genet  : +3)-+32, '22/*'3.2/0 Nat Genet : '.)-'3+, '22)#'('/((

AD

3p+'

TWIST

twist homolog '(Drosophila)*.('.++ Nat Genet  : 0.-/', '223*0((/5) Nat Genet  : /''-/'., +((/Nat Genet  : /''-/'., +((/Am J Hum Genet  : 2+-2.,+((/Nat Genet  : +3)-+5', +(()
Nat Genet  : +3)-+5', +(()
Hum Mol Genet  : '/3)-'/55, +(()
Cell  : 330-332, '223
Nat Genet  : 25-'(0, '22/#'('/((

AD

'(q+.

FGFR2

Fibroblast growth factor receptor +*'3.2/0 Am J Hum Genet  : '03(-'05(, '225#'('.((

AD

5p''.+-p''.'

FGFR1

Fibroblast growth factor receptor '*'0.0)( Nat Genet  : +.2-+3/, '22/#'('.((

AD

'(q+.

FGFR2

Fibroblast growth factor receptor +*'3.2/0 Nat Genet#+(3/'(#'+032(#'3)3((

AR
AD
AD

3q''.+
'(q+.
3p'0

POR
FGFR2
GLI3

*'+/(') Nat Genet  : ++5-+0(, +((/*'3.2/0 Nat Genet  : /2+-/2/, '22.
*'.)+/( Hum Genet  : /)+-/)., '22'#'.5)((

AD)q0/-q0)

MSX2#.(2)23#'5(5/2ADAD''p''-p'+'.p'0.0

ALX4
CREBBP#'3./)(

AD

3q0.

HLXB9

P/)((cytochrome)oxidorecuctase
Fibroblast growth factor receptor +GLI-Kruppel family member GLI0
(Greig cephalosyndactyly
syndrome)msh(Drosophila)homeo box
homolog +Aristaless-like homeobox /CREB binding protein(Rubinstein-Taybi syndrome)
Homeo box HB2#0(((((

XR

Xp++

MID1

Midline '(Opitz/BBB syndrome)*0(())+ Nat Genet  : +5)-+2', '223#'.2/((#+/'/'(

ADAR'q/+.''q/+-q/0

LBR
TBCE

Lamin B receptor
Tubulin-speciﬁc chaperone e*.(((+/ Nat Genet  : /'(-/'/, +((+*.(/20/ Nat Genet  : //5-/)+, +((+#+///.(#+'2(((

AR
AR'q/+-q/0
/q+'

TBCE
FRAS1

Tubulin-speciﬁc chaperone e
Fraser syndrome '*.(/20/ Nat Genet  : //5-/)+, +((+*.(350( Nat Genet  : +(0-+(5, +((0#'./+((

AD.q+'-q+0.+

GJA1

AR

'5q+'.'DYM

Gap junction protein, alpha ',/0kDa(connexin /0)
dymeclin*'+'('/ Am J Hum Genet  : /(5-/'5, +((0Dyggve-Melchior-Clausen dysplasia#++05(((DMC)
Smith-McCort dysplasia(SMC)#.(30+.
Macrocephaly, multiple lipomas, and hem- #')0/5(
angiomata(Bannayan-Zonana syndrome,
Bannayan-Riley-Ruvalcaba syndrome)
Proteus syndrome%'3.2+(

AR
AD'5q+'.''(q+0.0

DYM
PTEN*.(3/.' Am J Hum Genet  : /'2-/+5, +((0*.('3+5 Cancer Res  : +3+/-+3+., '225

de novo'(q+0.0

PTEN

PTEN

dymeclin
Phosphate and tensin homolog(mutated in multiple advanced
cancers ')Phosphate and tensin homolog(mutated in multiple advanced
cancers ')Phosphate and tensin homolog(mutated in multiple advanced
cancers ')Cholinergic receptor, nicotinic,
gamma polypeptide
UDP-GAL : beta-GlcNAc beta-',0-galactosyltransferase-like
Holocytochrome c synthase(cytochrome c heme-lyase)
SH0 and multiple ankyrin repeat
domain 0
Low density lipoprotein receptorrelated protein +Formina parietalia permagna(Parietal
foramina ')(FPP/PFM')
Symmetric parietal foramina(PFM+)
Rubinstein syndrome(Rubinstein-Taybi
syndrome)
Sacral agenesis syndrome(Currarino
triad, SCRA')
Opitz syndrome(X-linked Opitz G/BBB
syndrome)
Pelger-Huët anomaly(PHA)
Hypoparathyroidism-retardationdysmorphism syndrome(HRD, SanjadSakati syndorme)
Kenny-Caﬀey syndrome type '(AR-KC)
Fraser syndrome(cryptophthalmos withother malformayions)Oculodentodigital dysplasia(ODDD)VACTERL association withhydrocephalus#+3.2)(?AR'(q+0.0

Multiple pterygium syndrome, Escobar
variant
Peters-plus syndrome#+.)(((

AR+q00-q0/

CHRNG#+.')/(

AR'0q'+.0

B3GALTL

Microphthalmia, syndromic 3(MCOPS3)#0(25('

XR

Xp++

HCCS

Chromosome ++q'0.0 deletion syndrome#.(.+0+AD++q'0.0

SHANK3

Donnai-Barrow syndrome#+++//5

AR+q+/-q0'

LRP2

Neuroﬁbromatosis, type I(NF')＋'.++((

AD'3q''.+

NF1

Neuroﬁbromatosis, type '-like syndrome#.''/0'AD')q'0.+SPRED1

Neurpﬁbromatosis, type II(NF+)#'('(((

AD++q'+.+

NF2

Tuberous sclerosis '(TSC')
Tuberous sclerosis +(TSC+)
von Hippel-Lindau syndrome#'2''((#'2''((#'200((

AD
AD
AD

2q0/
'.p'0.00p+).0

TSC1
TSC2
VHL

Pallister-Hall syndrome(PHS)#'/.)'(

AD

3p'0

GLI3

Glioblastoma multiforme
Glioblastoma multiforme#'035((#'035(('(q+).0-q+..''(q+0.0

DMBT1
PTEN

Cowden disease(CD)/Lhermitte-Duclos
syndrome#')50)('(q+0.0

PTEN: '30-'3., '22)*'+0'(' Nat Genet  : 053-02(, +(((Hum Mol Genet : '+)'-'+)), +(((*.()/+( Nat Genet  : '3-'5, +(('*.(('/( Nature  : 0/5-0)', '22)*'/+22/ Nat Genet  : 0)5-0.', '225*.(3/.' Am J Hum Genet  : /'2-/+5, +((0*.('3+5 J Med Genet  : 203-2/(, +((+*.('3+5 J Med Genet  : 5+(-5+0, +(('*'((30( Am J Hum Genet  : 0(0-0'+, +((.
*.'(0(5 Am J Hum Genet  : ).+-).., +((.
*0(((). Am J Hum Genet  : 535-552, +((.
*.(.+0( Nat Genet  : +)-+3, +((3*.(((30 Nat Genet  : 2)3-2)2, +((3母斑症
Neuroﬁbromin '(neuroﬁbromatosis, ＋'.++((
von Recklinghausen disease,
Watson disease)
Sprouty-related EVH' domain*.(2+2'containing protein 'Neuroﬁbromin +(bilateral*.(3032
acoustic neuroma)
Tuberous sclerosis '*.()+5/Tuberous sclerosis +*'2'(2+von Hippel-Lindau syndrome*.(5)03

Cell  : )22-.(5, '22(
Science  : '5'-'5., '22(
Nat Genet  : ''+(-''+., +((3Nature  : )')-)+', '220
Science  : 5()-5(5, '223
Cell  : '0()-'0'), '220
Science  : '0'3-'0+(, '220

腫瘍・過誤腫AD

GLI-Kruppel family member GLI0
(Greig cephalosyndactyly
syndrome)
Deleted in malignant brain tumors 'Phosphate and tensin homolog(mutated in multiple advanced
cancers ')Phosphate and tensin homolog(mutated in multiple advanced
cancers ')*'.)+/( Nat Genet  : +..-+.5, '223*.('2.2 Nat Genet  : 0+-02, '223*.('3+5 Science  : '2/0-'2/3, '223
Nat Genet  : 0).-0.+, '223*.('3+5 Nat Genet  : ./-.3, '223





疾患遺伝子一覧
疾患
疾患名

遺伝子

Medulloblastoma

MIM#'))+))

Neuroblastoma#+).3((

Neuroblastoma
Familial nonchromaﬃn paragangliomas '(Familial glomus tumors ')(PGL')#+).3((#'.5(((

Familial nonchromaﬃn paragangliomas 0(Familial glomus tumors 0)(PGL0)
Familial Schwannomatosis

遺伝形式

染色体座
'(q+/-q+)

遺伝子記号
SUFU

'p0..0-p0..+

NBL1

AD

/p'+
''q+0

PHOX2B
SDHD#.()030

AD

'q'0

SDHC

#'.+(2'AD++q'+.+

SMARCB1

Autosomal recessive mental retardation#+/2)((

AR/q+)-q+.

PRSS12

Mental Retardation, Autosomal reseccive .

#.''(2+AR

Bardet-Biedl syndrome type '(BBS')
Bardet-Biedl syndrome type +(BBS+)
Bardet-Biedl syndrome 0
Bardet-Biedl syndrome )Bardet-Biedl syndrome type 3(BBS3)
Bardet-Biedl syndrome type 5(BBS5)#+(22((#+(22((#+(22((#+(22((#+(22((#+(22((

AR
AR
AR
AR
AR
AR

Bardet-Bield Syndrome 2
Bardet-Biedl syndrome '(Bardet-Biedl syndrome ''#+(22((#+(22((#+(22((

AR
AR
AR

Berdet-Biedl Syndrome '+Cohen syndrome
Timothy syndrome#+(22((#+'.))(#.('(()AR
AR
AD

Martsolf syndrome#+'+3+(

AR

Autism, X-linked, susceptibility to, 'Autism, X-linked, susceptibility to, +Coﬃn-Lowry syndrome(CLS)#0((/+)#0((/2)#0(0.((XR
XR
XD

X-linked non-speciﬁc mental retardation(MRX'2)
Mental retardation, X-linked )2*0(((3)

XR#0((.0(XR

遺伝子名Suppressor of fused homolog(Drosophila)
Neuroblastoma, suppression oftumorigenecity 'Paired-like homeobox +B
Succinate dehydrogenase
complex, subunit D, integral
membrane protein
Succinate dehydrogenase
complex, subunit C, integral
membrane protein, ')-KD
SWI/SNF-related, matrixassociated, actin-dependent
regulator of chromatin,
subfamily B, member '文献
MIM*.(3(0) Nat Genet  : 0(.-0'(, +((+*.((.'0 Oncogene: +35)-+32', '22/*.(05)' Am J Hum Genet  : 3.'-3./, +((/*.(+.2( Science  : 5/5-5)', +(((*.(+/'0 Nat Genet  : +.5-+3(, +(((*.('.(3 Am J Hum Genet  : 5()-5'(, +((3精神発達遅滞・自閉症

X-linked nonspeciﬁc mental retardation(MRX)
X-linked non-speciﬁc mental retardation(MRX0/)
Mental retardation, X-linked, with orwithout seizures, ARX-related(MRXARA)
Partington X-linked mental retardation
syndrome(PRTS)
Mental Retardation, X-linked, 20
Monoamine oxidase A deﬁciency(Brunner syndrome)
Renpenning syndrome '(RENS')
Mental retardation, X-linked 2(MRX2)
Mental retardation, X-linked, JARID'Crelated
Mental retardation, X-linked 2+
X-linked nonspeciﬁc mental retardation)5(MRX)5)
X-linked non-speciﬁc mental retardation.((MRX.()
X-linked alpha-thalassemia/mental
retardation syndrome(ATRX)
X-linked mental retardation with growth
retardation, deafness, andmicrogenitalism(Juberg-Marsidi
syndrome, JMS)
Mental retardation, X-linked
nonsyndromic, DLG0-related
X-linked non-speciﬁc mental retardation(MRX0()
Nonsyndromic X-linked mental
retardation
Nonsyndromic X-linked mental
retardation(MRX.0)
Mental retardation, X-linked, syndromic,
UBE+A-related
Mental Retardation, X-linked, syndromic'/
X-linked nonspeciﬁc mental retardation(MRX/.)
Börjeson-Forssman-Lehmann syndrome
Mental retardation, X-linked, ZDHH2related
Lujan-Fryns syndrome

XR

Protease, serine, '+(neurotrypsin,
motopsin)
.q+'
GRIK2
Glutamate receptor, ionotropic,
kainate +
''q'0
BBS1
Bardet-Biedl syndrome '
'.q+'
BBS2
Bardet-Biedl syndrome +0p'+-q'0
ARL6
ADP-ribosylation factor-like .
+q0'
BBS5
Bardet-Biedl syndrome )
/q+3
BBS7
Bardet-Biedl syndrome 3'/q0+.'
TTC8
Tetratricopeptide repeat domain
5
3p'/
BBS9
Bardet-Biedl syndrome 2'+q+'.+
BBS10
Bardet-Biedl syndrome '(2q0'-q0/.'
TRIM32
Tripartite motif-containing
protein 0+
/q+3
BBS12
Bardet-Biedl syndrome '+5q++-q+0
COH1
Cohen syndrome ''+p'0.0
CACNA1C Calcium channel, voltagedependent, L type, alpha-'C
subunit'q/'
RAB3GAP2 RAB0 GTPase-activating protein,noncatalytic subunit
Xq'0.'NLGN3
Neuroligin 0
Xp++.00
NLGN4
Neuroligin /Xp++.+-p++.' RPS6KA3 Ribosomal protein S. kinase,2(kD, polypeptide 0
Xp++
RPS6KA3 Ribosomal protein S. kinase,2(kD, polypeptide 0
Xp++
AP1S2
Adaptor-related protein complex', sigma-+ subunit
Xp++.0
VCX
Variable charge, X chromosome#0(('/0

XR

Xp++.'-p+'.0 IL1RAPL1#0((/'2

XR

Xp++.'0#0(2)'(

XR*.(.3(2 Science   : '332-'35', +((+*'05+// Am J Hum Genet  : 32+-325, +((3*+(22('*.(.')'*.(55/)*.(0.)(*.(3)2(*.(5'0+Nat Genet  : /0)-/05, +((+Hum Mol Genet  : 5.)-53/, +(('Nat Genet  : 252-220, +((/
Cell  : '2-0', +((/Am J Hum Genet  : .)(-.)5, +((0Nature  : .+5-.00, +((0*.(32.5 Am J Hum Genet  : '(+'-'(00, +(()*.'('/5 Nat Genet  : )+'-)+/, +((.
*.(++2( Proc Natl Acad Sci   : .+53-.+2+, +((.
*.'(.50 Am J Hum Genet  : '-'', +((3*.(35'3 Am J Hum Genet  : '0)2-'0.2, +((0*''/+() Cell  : '2-0', +((/*.(2+3) Am J Hum Genet  : 3(+-3(3, +((.
*0((00. Nat Genet  : +3-+2, +((0*0((/+3 Am J Hum Genet  : ))+-))3, +((/
*0(((3) Nature  : ).3-)3(, '22.
*0(((3) Nat Genet  : '0-'/, '222*0((.+2 Am J Hum Genet  : '''2-''+/, +((.
*0((++2 Am J Hum Genet  : ).0-)30, +(((
*0((+(. Nat Genet  : +)-0', '222

ARXInterleukin ' receptor accessory
protein-like 'Aristaless related homeobax

Xp++.'0

ARX

Aristaless related homeobax*0((05+ Nat Genet  : //'-//), +((+

Bromodomain-and WD repeat
domain-containing protein 0
Monoamine oxidase A＋0(25)( Science  : )35-)5(, '220*0((05+ Hum Mol Genet  : 25'-22', +((+

#0((.)2

XR

Xq'0

BRWD3

＋0(25)(

XR

Xp''.+0MAOA#0(2)((#0(2)/2#0(()0/

XR
XR
XR

Xp''.+0
Xp''.+0
Xp''.++-p''.+'

PQBP1
FTSJ1
KDM5C

＋0(()30#0((+'(

XR
XR

Xp''
Xq''./ZNF674
TM4SF2#0((/5.

XR

Xq'+

OPHN1

#0('(/(

XR

Xq'0

ATRX

#0(2)5(

XR

Xq'0

ATRX

＋0(('52

XR

Xq'0.'

DLG3#0(())5

XR

Xq++

PAK3

Discs large, drosophila, homolog＋0(('52 Am J Hum Genet  : 0'5-0+/, +((/
of, 0p+'(CDKN'A)-activated kinase 0 *0(('/+ Nat Genet  : +)-0(, '225＋0(((0/

XR

Xq++-q+0

AGTR2

Angiotensin II receptor, type +＋0(((0/ Science   : +/('-+/(0, +((+

#0((053

XR

Xq++.0-q+0ACSL4*0((')3 Nat Genet  : /0.-//(, +((+

*0'+'5(

XR

Xq+/-q+)UBE2A#0((.3.

XR

Xq+)-q+.

UPF3B

Acyl-CoA synthetase long-chain
member /Ubiquitin-conjugating enzyme
E+A
UPF0, yeast, homolog of, B#0((/0.

XR

Xq+.

ARHGEF6#0('2((＋0((./.

XR
XR

Xq+.
Xq+..'PHF6
ZDHHC9#0(2)+(

XR

Xq'0

MED12

Polyglutamine binding protein 'FTSJ homolog 'lysine(K)-speciﬁc demethylase)C
Zinc ﬁnger protein .3/
Transmembrane / superfamily
member +Oligophrenin 'Alpha thalassemia/mental
retardation syndrome, X-linked(RAD)/ homolog, S. cerevixiae)
Alpha thalassemia/mental
retardation syndrome, X-linked(RAD)/ homolog, S. cerevixiae)

Rac/Cdc/+ guanine exchange
factor(GEF).
PHD ﬁnger protein .
Zinc ﬁnger, DHHC-typecontaining 2
Mediator complex subunit '+*0(())0 Am J Hum Genet  : 0.3-03/, +((3＋0((/.0 Nat Genet  : 0'0-0'), +((0*0((/22 Am J Hum Genet  : 0()-0(2, +((/
*0'/.2( Am J Hum Genet  : ++3-+0., +(()
＋0(()30 Am J Hum Genet  : +.)-+35, +((.
*0(((2. Nat Genet  : '.3-'3(, +(((
*0(('+3 Nature   : 2+0-2+., '225*0(((0+ Cell  : 503-5/), '22)*0(((0+ Nat Genet  : 05)-0.(, '22.

*0'+'5( Am J Hum Genet  : )/2-))), +((.
*0((+25 Nat Genet  : ''+3-''00, +((3*0((+.3 Nat Genet  : +/3-+)(, +(((
*0((/'/ Nat Genet  : ..'-..), +((+
＋0((./. Am J Hum Genet  : 25+-253, +((3*0(('55 J Med Genet  : /3+-/33, +((3疾患遺伝子一覧
疾患

遺伝子



文献
MIM
*0'0/0( Am J Hum Genet  : '/)(-'/)), +((+

疾患名
X-linked mental retardation with isolated
growth hormone deﬁciency(MRGH)
MASA(mental retardation, aphasia,
shuﬄing gait, and adducted thumbs)
syndromeMIM#0(('+0

遺伝形式
XR

染色体座
Xq+..0

遺伝子記号SOX3#0(00)(

XR

Xq+5

L1CAM

Fragile X syndrome(Martin-Bell
syndrome)#0((.+/XR

Xq+3.0

FMR1

遺伝子名
SRY(sex determining region Y)box 0
L' cell adhesion molecule〔hydrocephalus, stenosis of
aqueduct of Sylvius ', MASA
(mental retardation, aphasia,
shuﬄing gait and adduced
thumbs)syndrome, spastic
paraplegia '〕Fragile X mental retardation 'X-linked mental retardation associatedwith fragile site FRAXE
X-linked non-speciﬁc mental retardation(MRX/', MRX/5)
Rett syndrome(RTT)＋0(2)/5

XR

Xq+5

FMR2

Fragile X mental retardation +*0(2))( Science   : ''32-''5', '22'
Science   : '(23-''(+, '22'
Cell  : '(/3-'()5, '22'＋0(2)/5 Cell  : '+3-'0/, '220＋0(('(/

XR

Xq+5

GDI1

GDP dissociation inhibitor '＋0(('(/ Nat Genet  : '0/-'02, '225#0'+3)(

XD

Xq+5

MECP2

*0(((() Nat Genet  : '5)-'55, '222

XR

Xq+5

MECP2

#0((())

XR

Xq+5

MECP2

Methyl-CpG-binding protein +(Rett syndrome)
Methyl-CpG-binding protein +(Rett syndrome)
Methyl CpG binding protein +#0'+3)(

de novo

Xp++

CDKL5

Cyclin-dependent kinase-like )#0((0)+XR

Xq+5

SLC6A8

Solute carrier family .
(neurotransmitter transporter,
creatine), member 5*0((+(0 Am J Hum Genet  : '(32-'(20, +((/Am J Hum Genet  : ''/2-'')/, +((/
*0(((0. Am J Hum Genet  : '0/2-'0)., +((+#.(+(5'

AD

3q0'

FOXP2

Forkhead box P+*.()0'3 Nature  : )'2-)+0, +(('

Fructose-', .-bisphosphatse deﬁciency#++23((AR

Fructose-', .-bisphosphatase '#+0+0((

AR

2q++.+q++.0'3q+).+q+).0

FBP1

Glycogen storage disease II(Pompedisease)

GAA*.'')3( Biochem Biophys Res Commun  : 323-5(/,'22)*.(.5(( Biochem J  : /20-/23, '22(

Glycogen storage disease III(Coridisease)#+0+/((

AR

'p+'

AGL

Glucosidase, alpha ; acid(Pompedisease, glycogen storage
disease type II)
Amylo-', .-glucosidase, /-alphaglucotransferase

Glycogen storage disease V(McArdle’s
disease)#+0+.((AR''q'+-q'0.+

PYGM

Glycogen storage disease VII〔Tarui(垂井)disease〕
Deﬁciency of M subunit ofphosphoglycerate mutase(Glycogenstorage disease X)
Glycogen storage disease XIII(GSD'0)
Phosphoglycerate kinase ' deﬁciency#+0+5((

AR'+q'0.0

PFKM#+.'.3(AR

3p'0-p'+.0

PGAM2

Phosphoglycerate mutase +(muscle)*.'+20' Am J Hum Genet  : /3+-/33, '220#.'+20+#0((.)0AR
XR'3pter-p'+
Xq'0

ENO3
PGK1

Enolase 0,(beta, muscle)
Phosphoglycerate kinase '*'0'03( Ann Neurol: +(+-+(3, +(('
*0''5(( Blood  : ')5+-')5), '22+
Blood  : '0/5-'0)+, '22'*')(((( Biochem Biophys Res Commun  : .33-.5+,'22(*'3+/2( Hum Mol Genet  : ''(2-'''), '223

X-linked mental retardation andprogressive spasticity
Mental retardation with psychosis,
pyramidal sign and macroorchidism(PPM-X syndrome)
Rett syndrome, atypical, CDKL)-related
X-linked mental retardation with seizures*0(55/( Nat Genet  : /(+-/(3, '22/
Nat Genet  : /(5-/'0, '22/*0(((() Am J Hum Genet  : 25+-25), +(((
*0(((() Am J Hum Genet  : '(0/-'(03, +((+

言語発達障害Speech and language disorder (Developmental verbal dyspraxia, SPCH')
代謝異常
糖原病・糖代謝異常

Glycogen storage disease XI (GSD'' ;Lactate dehydrogenase A deﬁciency)
Autosomal recessive phosphorylase
kinase deﬁciency of liver and muscle
Pyruvate dehydrogenase E+ deﬁciency

Phophorylase, glycogen ; muscle(McArdle syndrome, glycogenstorage disease type V)
Phosphofructokinase, muscle*.'(5.( J Clin Invest 5 : 0)+-0)3, '22.
Biochem Biophys Res Commun  : /20-/22,'22.
*.(5/)) New Engl J Med  : +/'-+/), '220*.'(.5' J Biol Chem  : 202+-202), '22(#.'+200

AR''p')./

LDHA

Lactate dehydrogenase A#+.'3)(AR'.q'+-q'0

PHKB

Phosphorylase kinase, beta#+/)0/5

AR''q+0.'DLAT*.(533( Ann Neurol  : +0/-+/', +(()

Pyruvate dehydrogenase E0-binding
protein deﬁciency
Pyruvare carboxylase deﬁciency(Leighnecrotizing encephalopathy)
Pyruvate dehydrogenase deﬁciency#+/)0/2

AR

''p'0

PDHX

#+..')(

AR''q'0./-q'0.)

PC

Dihydrolipoamide Sacetyltransferase
Pyruvare dehydrogenase
complex, component X
Pyruvate carboxylase#0'+'3(

XR

Xp++.+-p++.'PDHA1*0(()(+ Am J Hum Genet  : 0)5-0./, '252

Succinic semialdehyde dehydrogenase
deﬁciency#+3'25(AR.p++

ALDH5A1

Pyruvate dehydrogenase(lipoamide)alpha 'Aldehyde dehydrogenase )family, member A'

Phenylketonuria(PKU)
Phenylketonuria II(PKU+)#+.'.((#+.'.0(AR
AR'+q+/.'/p').0'

PAH
QDPR*.'+0/2 Biochemistry  : 3/0-3/2, '25.
*.'+.3. Am J Hum Genet  : +32-+5), '22(

Phenylketonuria III#+.'./(

AR''q++.0-q+0.+

PTS

Hyperphenylalaninemia withprimapterinuria#+./(3(

AR

'(q++

PCBD1

GTP cyclohydolase I deﬁciency(Hyperphenylalanemia with neopterindeﬁciency)
DOPA-responsive dystonia(DRD，
瀬川病)
Segawa syndrome, autosomal recessive
Dystonia, DOPA-responsive, due tosepiapterin reductase deﬁciency#+002'(

AR'/q++.'-q++.+

GCH1

Phenyalanine hydroxylase
Quinoid dihydropteridine
reductase.-Pyruvoyltetrahydropterin
synthase.-Pyruvoyl-tetrahydropterin
synthase/dimerization cofactorof hepatocyte nuclear factor 'alpha(TCF')
GTP cyclohydrolase '#'+5+0(#.()/(3＋'5+'+)AD
AR
AR'/q++.'-q++.+''p').)+p'/-p'+

GCH1
TH
SPR

Dopamine beta-hydroxylase deﬁciency,
congenital#++00.(

AR

2q0/

DBH

Aromatic L-amino acid decarboxylasedeﬁciency#.(5./0

AR

3p''

DDC

*.(53.2 Am J Hum Genet  : '0'5-'0+., '223*.(535. Am J Hum Genet  : '0'+-'0'2, '225*.'((/) Am J Hum Genet  : 022-/(5, '225

アミノ酸・ビタミン代謝異常

GTP cyclohydrolase 'tyrosine hydroxylase
Sepiapterin reductase(3, 5dihydrobiopterin : NADP＋oxidoreductase)
Dopamine beta-hydroxylase(dopamine betamonooxygenase)
Dopa decarboxylase(aromatic Lamino acid decarboxylase)*.'+3'2 Am J Hum Genet  : 35+-32+, '22/*'+.(2( Am J Hum Genet  : 3.5-33/, '220*.((++) J Pediat  : /('-/(), '22)
J Biol Chem  : '((.+-'((3', '22)*.((++) Nat Genet  : +0.-+/+, '22/*'2'+2( Hum Genet: '+0-'+), '22)＋'5+'+) Am J Hum Genet  : +.2-+33, +(('*.(20'+ Am J Med Genet   : '/(-'/3, +((+*'(320( J Inherit Metab Dis  : /, '225 

疾患遺伝子一覧疾患

疾患名
Homocystinuria due to deﬁciency N()，'()-methylenetetrahydrofolate
reductase activity(MTHFR deﬁciency)
Sulfocysteinuria
Methionine adenosyl transferase
deﬁciency
Tyrosinemia, type I

遺伝子
遺伝形式
AR

染色体座
'p0..0

遺伝子記号
MTHFR

遺伝子名
), '(-methylenetetrahydroforate
reductase(NADPH)#+3+0((#+)(5)(AR
AD, AR'+q'0.'0
'(q++

SUOX
MAT1A

Sulﬁte oxidase*.(.553
Methionine adenosyltransferase I, *.'())(
alpha
Fumarylacetoacetate hydrolase＋+3.3(((fumarylacetoacetase)Tyrosine aminotransferase＋+3..((＋+3.3((

AR')q+0-q+)

FAH

Tyrosine transaminase deﬁciency(Tyrosinemia, type II)
Homocystinuria
Methylmalonic aciduria andhomocystinuria, cblC type＋+3..((

AR'.q++.'-q++.0

TAT＋+0.+((#+33/((

AR
AR+'q++.0'p0/.'CBS
MMACHC

Methylmalonic aciduria andhomocystinuria, cblD type#+33/'(

AR+q+0.+

MMADHC

Methylcobalamin deﬁciency, cbl E type#+0.+3(AR)p').0-p').+

MTRR

Methylcobalamin deﬁciency, cbl G type#+)(2/(

AR

'q/0

MTR

Isolated nonketotic hyperglycemia, type I#.()522

AR

2p++

GLDC

Isolated nonketotic hyperglycemia, typeII
Nonketotic hyperglycenemia(NKH)/
Glycine encephalopathy(GCE)
Transient neonatal hyperglicinemia(TNH)#.()522AR

0p+'.+-p+'.'

AMT

'.q+/

GCSH

2q++

GLDC

Transient neonatal hyperglycinemia(TNH)
Dimethylglycine dehydrogenase
deﬁciency(DMGDHD)Hyperammonemia due tocarbamoylphosphate synthetase I(CPS')deﬁciency
Phosphoglycerate dehydrogenase
deﬁciency
Hyperammonemia due to ornithinetranscarbamylase deﬁciency(OTC)
Argininosuccinic aciduria

文献
MIM*.(3(20 Nat Genet  : '2)-+((, '22/MIM#+0.+)(#.()522#.()522

AD

Cystathionine-beta-synthase＋+0.+((
Methylmalonic aciduria*.(250'(cobalamin deﬁciency)vblC
type, with homocystinuria
Methylmalonic aciduria*.''20)(cobalamin deﬁciency)vblD
type, with homocystinuria)-methyltetrahydrofolate*.(+).5
homocysteine
methyltransferase reductase)-methyltetrahydrofolate*').)3(
homocysteine
methyltransferase*+050((
Glycine dehydrogenase(carboxylating ; glycine
decarboxylase, glycine cleavage
system protein P)
Aminomethyltransferase(glycine *+050'(
cleavage system protein T)
Glycine cleavage system protein*+0500(H(aminomethyl carrier)Glycine dehydrogenase*+050(((decarboxylating, glycine
decarboxylase, glycine cleavage
system protein P)
Glycine cleavage system protein*+0500(H(aminomethyl carrier)Dimethylglycine dehydrogenase*.()5/2
precursor
Carbamoyl-phosphate synthetase *.(50(3', mitochondrial

Cell  : 230-250, '223
J Clin Invest: '2/0-'2/3, '22)
J Clin Invest: ''5)-''2+, '22+

Hum Genet  : 0)+-0)5, '253
Hum Mutat  : ''0-'+0, '22+
Nat Genet  : 20-'((, +((.

New Engl J Med   : '/)/-'/./, +((5Proc Nat Acad Sci

Hum Mol Genet
Hum Mol Genet: 0()2-0(./, '225

: '5.3-'53/, '22.
: '5)2-'5.), '22.

Biochem Biophys Res Commun  : ''3.-''5+,'22'
Mol Biol Med  : .)-32, '22'
Hum Genet  : .))-.)5, '22/
Am J Hum Genet  : 0)'-0.', '22'
Ann Neurol  : ./0-./., +((+

AD

'.q+/

GCSH

#.()5)(

AR)q'+.+-q'+.0

DMGDH

Ann Neurol  : ./0-./., +((+#+030((

AR

+q0)

CPS1

#.('5')

AR

'q'+

PHGDH

Phosphoglycerate dehydrogenase*.(.532 Am J Hum Genet  : '052-'022, +(((

#0''+)(

XR

Xp+'.'

OTC

Ornithine carbamoyltransferase*0((/.' J Clin Invest  : '0)0-'0)5, '255*.(50'( Proc Natl Acad Sci  : 2.+)-2.+)2, '22(
Am J Hum Genet (suppl.): A'.2, '22(*.(50'0 J Clin Invest  : 0/3-0)(, '22(*.(+0.( Am J Hum Genet  : ''+3-''00, +(('Am J Hum Genet  : 502-5/3, +(('J Clin Invest  : '55/-'553, '220#+(32((

AR

3cen-q''.+ASL

Argininosuccinate lyase

Argininemia
Arginine : glycine amidinotransferase
deﬁciency#+(35((#.'+3'5

AR
AR

.q+0
')q').0

ARG1
GATM

N-acetylglutamate synthase deﬁciency
Maple syrup urine disease, type IA(MSUD IA)#+030'(#+/5.((

AR
AR'3q+'.0''2q'0.'-q'0.+(NAGS)BCKDHA

Maple syrup urine disease, type IB(MSUD IB)#+/5.((

AR.p++-p+'BCKDHB

Maple syrup urine disease, type II(MSUD, type II)#+/5.((

AR

'p0'

DBT

Arginase, liver
Glycine amidinotransferase(Larginine : glycine
amidinotransferase)
N-acetylglutamate synthase
Branched chain keto aciddehydrogenase E', alphapolypeptide(maple syrup urine
disease)Branched chain keto aciddehydrogenase E', betapolypeptide(maple syrup urindisease)
Dihydrolipoamide branched chaintransacylase E+

Lactic acidosis due to lipoamide
dehydrogenase deﬁciency(Maple syrup
urine disease, type III)
Isovaleric acidemia(IVA)#+/5.((

AR

3q0'-q0+

DLD

Dihydrolipoamide dehydrogenase#+/0)((

AR')q'/-q')

IVD#.(.()/

AR

'0q0+

PCCA

#.(.()/

AR

0q+'-q++

PCCB#+)'(((

AR

.p+'

MUT

#+)''+(

AR+p'0.0MCEEIsovaleryl Coenzyme A
dehydrogenase
Propionyl Coenzyme A
carboxylase, alpha polypeptide
Propionyl Coenzyme A
carboxylase, beta polypeptide
Methylmalonyl Coenzyme A
mutaseMethylmalonyl CoA epimerase*.(3(0. Am J Hum Genet  : '/3-')3, '22'

Propionic acidemia, type I(Ketotic
hyperglycinemia, type I)
Propionic acidemia, type II(Ketotic
hyperglycinemia, type II)
Methylmalonic aciduria due tomethylmalonic CoA mutase deﬁciency
Methylmalonyl-CoA epimerase
deﬁciency
0-Methylcrotonylglycinuria I(complementation group A)#+'(+((

AR0q+)-q+3

MCCC1

Methylcrotonyl-Coenzyme A
carboxylase '(alpha)0-Methylcrotonylglycinuria II(complementation group B)#+'(+'(

AR)q'+-q'0

MCCC2

Methylcrotonyl-Coenzyme A
carboxylase +(beta)

0-Methylglutaconic aciduria, type I#+)(2)(

AR

2q++

AUH

Familial hyperlysinemia#+053((

AR

3q0'.0AASS

Congenital glutamine deﬁciency
Pyroglutamic aciduria()-Oxoprolinuria)
Malonyl-CoA carboxylase(MLYCD)
deﬁciency#.'((')#+..'0(#+/50.(

AR
AR
AR

'q0'
+(q''.+
'.q+/

GLUL
GSS
MLYCD

AU RNA binding protein/enoylCoenzyme A hydratase
Alpha-aminoadipic semialdehyde
synthetase
Glutamate-ammonia ligase
Glutathione synthetase
Malonyl-Coenzyme A
decarboxylase*.(2('( Am J Hum Genet  : 00/-0/., +(('Hum Mol Genet  : '+22-'0(., +(('J Clin Invest   : /2)-)(/, +(('*.(2('/ Am J Hum Genet  : 00/-0/., +(('Hum Mol Genet  : '+22-'0(., +(('J Clin Invest   : /2)-)(/, +(('*.(()+2 Am J Hum Genet  : '/.0-'/.., +((+*.(50(( Ann Neurol  : 5/)-5/2, +((+*.(50/5 J Clin Invest  : '/+)-'/+2, '252*+/5.'' J Clin Invest  : '5.+-'5.., '22'*+/5.'( Biochem Biophys Res Commun  : 5(/-5(2,'22'
J Clin Invest  : '+(3-'+'', '22'*+0500' Proc Natl Acd Sci: )'5.-)'2(, '222*+0+((( Hum Genet   : 20-2., '223*+0+()( Genomics  : +/2-+)/, '22(*.(2()5 Proc Natl Acad Sci  : 0'/3-0')(, '22(*.(5/'2 Hum Mutat  : ./(-./0, +((.

*.()'00 Am J Hum Genet  : '30.-'3/0, +(((*'05+2( New Engl J Med   : '2+.-'200, +(()*.('((+ Nat Genet  : 0.'-0.), '22.
*.(.3.' Am J Hum Genet  : 0'5-0+., '222

疾患遺伝子一覧
疾患

遺伝子

疾患名
Holocarboxylase synthetase deﬁciency

MIM#+)0+3(

遺伝形式
AR

染色体座
+'q++.'

遺伝子記号
HLCS

Biotinidase deﬁciency(Late-onset
multiple carboxylase deﬁciency)#+)0+.(

AR

0p+)

BTD

#.(+/30＋+/./)(

AR
AR'2q'0.0+'pter-p00

ETHE1
HMGCL

遺伝子名
Holocarboxylase synthetase〔biotin-[proprionyl-Coenzyme
A-carboxylase(ATPhydrolysing)]ligase〕
Biotinidase

 

文献
MIM
*.(2('5 Nat Genet  : '++-'+5, '22/*.(2('2 Nat Genet  : 2.-25, '22)

有機酸代謝異常Encephalopathy, ethylmalonic
0-Hydroxy-0-methylglutaryl-coenzyme
A lyase deﬁciency

Glutaric acidemia I(Glutaryl-CoA
dehydrogenase deﬁciency)
AMACR deﬁciency#+0'.3(AR'2p'0.+

GCDH＋.(//52AR

AMACR

Alpha-methylacetoacetic aciduria(Mitochondrial acetoacetyl-CoA
thiolase deﬁciency)
Short chain acyl-CoA dehydrogenase(SCADH)deﬁciency#+(03)(

AR)p'0.+q''.'''q++.0-q+0.'#+('/3(AR'+q++-qter

ACADS

Medium-chain acyl-CoA dehydrogenase(MCADH)deﬁciency#+('/)(

AR

'p0'

ACADM

Deﬁciency of long chain acyl-CoA
dehydrogenease(LCAD)
Trifunctional protein deﬁciency, type '(Long-chain 0-hydroxyacyl-CoA
dehydrogenase(LCHAD)deﬁciency)

Trifunctional protein deﬁciency, type +(Long-chain 0-hydroxyacyl-CoA
dehydrogenase(LCHAD)deﬁciency)

ACAT1#+('/.(

AR+q0/-q0)

ACADL#.(2(')

AR

+p+0

HADHA

#.(2(')

AR

+p+0

HADHB

Peroxisomal acyl-CoA oxidase deﬁciency#+.//3(

AR

'3q+)

ACOX1

Carnitine palmytoyltransferase I
deﬁciency
Carnitine palmitoyltransferase II(CPT II)
deﬁciency
Carnitine-acylcarnitine translocase(CACT)deﬁciency#+))'+(

AR

''q'0

CPT1A

#+))''(

AR

'p0+

CPT2

＋+'+'05

AR

0p+'.0'

SLC25A20#+..)((

AR'(pter-p''.+PHYH+-Methylbutyrylglycinuria#.'(((.

AR'(q+)-q+.

ACADSB

Deﬁciency of very long chain acyl-CoA
dehydrogenease(VLCAD)
Cerebrotendinous xanthomatosis(CTX)#+('/3)AR'3p''.+-p''.'0

ACADVL#+'03((

AR+q00-qter

CYP27A1

Smith-Lemli-Opitz syndrome(SLOS)#+3(/((AR''q'+-q'0

DHCR7

Lathosterolosis#.(300(AR''q+0.0

SC5DL

Peroxisomal D-bifunctional protein
deﬁciency#+.')')AR)q+

HSD17B4

Refsum disease(Heredopathia atactica
polyneuritiformis)

ETHE' gene*.(5/)'
0-hydroxymethyl-0＋+/./)(
methylglutaryl-Coenzyme A
lyase(hydroxymethylglutaric
aciduria)
Glutaryl-Coenzyme A*.(55('
dehydrogenase
Alpha-methylacyl-CoA racemase ＋.(//52
Acetyl-Coenzyme A
acetyltransferase '(acetoacetyl
Coenzyme A thiolase)
Acyl-Coenzyme A
dehydrogenase, C-+ to C-0
short chain
Acyl-Coenzyme A
dehydrogenase, C-/ to C'+
straight chain
Acyl-Coenzyme A
dehydrogenase, long chain
Hydroxyacyl-Coenzyme A
dehydrogenase/0-ketoacylCoenzyme A thiolase/enoylCoenzyme A hydratase(trifunctional protein), alphasubunitHydroxyacyl-Coenzyme A
dehydrogenase/0-ketoacylCoenzyme A thiolase/enoylCoenzyme A hydratase(trifunctional protein), beta
subunitAcyl-Coenzyme A oxidase ',palmitoyl
Carnitine palmytoyltransferase'A(liver)
Carnitine palmytoyltransferase II

Am J Hum Genet  : +02-+)+, +((/Am J Hum Genet (suppl.): A'30, '22+

Am J Hum Genet (suppl.): A'.), '22+
Nat Genet  : '55-'2', +(((*.(35(2 Biochem Biophys Res Commun  : '+/-'+2,'22'*.(.55) Am J Hum Genet  (suppl.): A+(5, '252*.(3((5 Biochem Biophys Res Commun  : /25-)(.,'22(*.(2)3. Proc Natl Acad Sci  : 5/'-5/), '22)*.((52( Biochem Biophys Acta  : 0/3-0)(, '22/*'/0/)( Am J Hum Genet  : 232-255, '22.

*.(23)' J Clin Invest  : )+.-)0', '22/*.(()+5 J Clin Invest   : )+3-)0', '225*.((.)( Poc Natl Acad Sci  : 5/+2-5/00, '22+

Solute carrier family +)(carnitine/ ＋+'+'05 Am J Hum Genet  : '+02-'+/), '223
acylcarnitine translocase),
member +(Phytanoyl-CoA hydroxylase*.(+(+. Nat Genet  : '5)-'52, '223
(Refsum disease)
Nat Genet  : '2(-'20, '223

胆汁酸・ステロール・ステロイド代謝異常
Acyl-Coenzyme A
dehydrogenase, short/branched chain
Acyl-Coenzyme A
dehydrogenase, very long chain
Cytochrome P/)(, subfamily
XXVIIA(stroid +3hydroxylase, cebrotendinous
xanthomatosis), polypeptide '3-dehydrocholesterol reductase
Sterol-C)-desaturase(ERG0delta-)-desaturase homolog,
fungal)-like
Hydroxysteroid('3-beta)
dehydrogenase /*.((0(' Am J Hum Genet  : '(2)-''(0, +(((
Pediat Res  : 50(-500, +(((*.(2)3) Proc Natl Acad Sci  : '(/2.-'()((, '22)
Am J Hum Genet  : +30-+50, '22)*.(.)0( J Biol Chem  : 3332-3350, '22'*.(+5)5 Am J Hum Genet  : ))-.+, '225
Am J Hum Genet  : 0+2-005, '225*.(++5. Am J Hum Genet  : 2)+-2)5, +((+*.('5.( Am J Hum Genet  : '')0-''.+, '223

核酸代謝異常Lesch-Nyhan syndrome(LNS)#0((0++

XR

Xq+.-q+3.+

HPRT1

Adenylosuccinate lyase(ADSL)deﬁciency
Myopathy due to myoadenylate
deaminase deﬁciency
Dihydropyrimidinase deﬁciency
Beta-ureidopropionase deﬁciency#'(0()(＋'(+33(AR
AD++q'0.''p+'-p'0

ADSL
AMPD1

＋+++3/5＋.(..30

AR
AR

5q++
++q''.+DPYS
UPB1

Hypoxanthine
phosphoribosyltransferase 'Adenylosuccinate lyase
Adnosine monophosphatedeaminase '(isoform M)
Dihydropyrimidinase
Beta-ureidopropionase

Acute intermittent porphyria(AIP)
Porphyria variegata#'3.(((#'3.+((

AD
AD''q+0.+-qter
'q++

HMBS
PPOX

Hydrosymethylbilane synthase
Protoporphyrinogen oxidase

Coproporphyria#'+'0((

AD

0q'+

CPOX

Coproporphyrinogen oxidase

Delta-aminolevulinate dehydratase(ALAD)deﬁciency#.'+3/(

AR

2q0/

ALAD

Aminolevulinate, delta-,
dehydratase

Aceruloplasminemia#.(/+2(AR

0q+0-q+/CP

Sulfocysteinuria(Sulﬁte oxidase
deﬁciency)#+3+0((

AR'+q'0.'0

SUOX*0(5((( J Clin Invest  : 3.3-33+, '250*.(5+++ Nat Genet  : )2-.0, '22+＋'(+33( Proc Natl Acad Sci  : ./)3-./.', '22+＋+++3/5 Am J Hum Genet  : 3'3-3+., '225＋.(..30 Hum Mol Genet  : +320-+5(', +((/

ポルフィリア*.(25(. Nucleic Acids Res  : ..03-../3, '252*.((2+0 Hum Mol Genet : /(3-/'(, '22.
Nat Genet  : 2)-23, '22.
*.'+30+ Hum Mol Genet  : /33-/5(, '22/
Hum Mol Genet  : '0+)-'00(, '22/
Hum Mol Genet  : '5(3-'5'(, '22/*'+)+3( Biochem Biophys Res Commun  : +03-+/+,'22(

金属代謝関連疾患
Ceruloplasmin(ferroxidase)

Sulﬁte oxidase*''33(( Biochem Biophys Res Cimmun  : 52-2), '22)
Nat Genet : +.3-+3+, '22)
Proc Natl Acad Sci  : +)02-+)/0, '22)*.(.553 Cell  : 230-250, '223 

疾患遺伝子一覧疾患

疾患名
Molybdenum cofactor deﬁciency(MOCOD)
Molybdenum cofactor deﬁciency type C

遺伝子
遺伝子名
Molybdenum cofactor synthesis '文献
MIM*.(03(3 Nat Genet  : )'-)0, '225

GPHN

Gephyrin*.(020( Am J Hum Genet  : +(5-+'0.+(('

2q'+

TRPM6

*.(3((2 Nat Genet  : '..-'3(, +((+Nat Genet  : '3'-'3/, +((+

AR'.p'+.'

ATP2A1

XR

Xq'+-q'0

ATP7A

XR

Xq'+-q'0

ATP7A

Transient receptor potential
cation channel, subfamily M,
member .
ATPase, Ca＋＋ transporting,cardiac muscle, fast twitch 'ATPase, Cu＋＋ transporting, alphapolypeptide(Menkes
syndrome)
ATPase, Cu＋＋ transporting, alphapolypeptide(Menkes
syndrome)
ATPase, Cu＋＋ transporting, betapolypeptide
ATPase, type '0A+
ATP-binding cassette, sub-family
A(ABC'), member 'MIM#+)+')(

遺伝形式
AR

染色体座
.p+'.0

遺伝子記号
MOCS1

#+)+')(

AR'/q+0.0

Hypomagnesemia, secondary
hypocalcemia(HOMG)#.(+('/

AR

Brody myopathy#.('((0Menkes syndrome#0(2/((

Occipital horn syndrome#0(/')(

トランスポーター障害

Wilson disease#+332((

AR'0q'/.0-q+'.'

ATP7B

Kufor-Rakeb syndrome
Tangier disease(HDLDT', high density
lipoprotein deﬁciency, Tangier type ')#.(..20#+()/((

AR
AR

'p0.
2q++-q0'

ATP13A2
ABCA1

Sideroblastic anemia and spinocerebellar
ataxia(ASAT, XLSA/A)
Adrenoleukodystrophy(ALD)#0('0'(

XR

Xq'0

ABCB7

#0(('((

XR

Xq+5

ABCD1

Glucose transport defect, blood-brain
barrier
Fanconii-Bickel syndrome(FBK)#.(.333AD'p0)-p0'.0

SLC2A1#++35'(

AR

0q0..'-q+..0

SLC2A2Hartnup disorder#+0/)((AR)p')

SLC6A19

Lysinuric protein intolerance(LPI)#+++3((

AR'/q''.+SLC7A7

Agenesis of corpus callosum withneuropathy(ACCPN, Charlevoix
disease)Sialic acid storage diseases(SASD)#+'5(((

AR')q'0-q'/

SLC12A6AR.q'/-q')

SLC17A5

Infantile sialic acid storage disease(ISSD)
Salla disease(sialuria, Finish type)
Basal ganglia disease, biotin-responsive
Amish type microcephaly(MCPHA)#+.22+(#.(/0.2#.(3/50#.(3'2.

AR
AR+q0..0'3q+).0

SLC19A3
SLC25A19

Primary systemic carnitine deﬁciency(SCD/CDSP)
Adult-onset type II citrullinemia(CTLN+)
Hyperornithinaemia-hyperammonaemiahomocitrullinuria(HHH)syndrome#+'+'/(AR)q0'

SLC22A5#.(0/3'AR

3q+'.0

SLC25A13#+0523(AR'0q'/

SLC25A15

X-linked creatine deﬁciency#0((0)+XR

Xq+5

SLC6A8ACAD 2 deﬁciency#.'''+.

de novo

0q+.

ACAD9

Coenzyme Q'( deﬁciency#.(3/+.

AR'(q'+.'

PDSS1

Coenzyme Q'( deﬁciency#.(3/+.

AR

.q+'

PDSS2

Leigh syndrome, French-Canadian type#++('''AR+p+'

LRPPRC

Combined oxidative phosphorylationdeﬁciency
Combined oxidative phosphorylationdeﬁciency /Leukoencephalopathy with brain stemand spinal cord involvement andLactate elevation
Mitochondrial DNA-depletion syndrome(MDS)
Mitochondrial DNA depletion myopathy#.(2(.(

AR

0q+)

GFM1

#.'(.35AR'.p''.+

TUFM#.'''()

AR'q+).'DARS2#+)'55(

AR

+p'0

DGUOK

#.(2).(

AR

'.q++

TK2

Lactic acidosis, fatal infantile#+/)/((

AR+p''.0SUCLG1

Mitochondrial DNA depletion syndrome,
encephalopathic form, withmethylmalonic aciduria
Glutaric aciduria IIA(Deﬁciency ofelectron transfer ﬂavoprotein, alphapolypeptide)
Glutaric aciduria IIB(Deﬁciency ofelectron transfer ﬂavoprotein, betapolypeptide)
Glutaric aciduria IIC(Electron transfer
ﬂavoprotein : ubiquinone
oxidoreductase deﬁciency)#.'+(30AR'0q'+.+-q'0

SUCLA2#+0'.5(AR')q+0-q+)ETFA#+0'.5(AR'2q'0.0-q'0./

ETFB#+0'.5(AR/q0+-q0)

ETFDH

ATP-binding cassette, sub-family
B(MDR/TAP), member 3
ATP-binding cassette, sub-family
D(ALD), member 'Solute carrier family +(facilitatedglucose transporter), member'
Solute carrier family +(facilitatedglucose transporter), member +Solute carrier family .
(Neurotransmittertransporter), member '2
Solute carrier family 3(cationicamino acid transporter, y ＋
system), member 3
Solute carrier family '+(potassium/chloride
transporters), member .
Solute carrier family '3(anion/
sugar transporter), member )*'(530( Nat Genet  : /.'-/./, '22.
*0((('' Nat Genet  : 3-'0, '220
Nat Genet  : '/-'2, '220
Nat Genet  : +(-+), '220*0((('' Nat Genet  : '2)-+(+, '220*.(.55+ Nat Genet : 0+3-003, '220
Nat Genet : 0//-0)(, '220*.'()'0 Nat Genet  : ''5/-''2', +((.
*.(((/. Nat Genet  : 00.-0/), '222
Nat Genet  : 0/3-0)', '222
Nat Genet  : 0)+-0)), '222*0(('0) Hum Mol Genet  : 3/0-3/2, '222*0((03' Nature  : 3+.-30(, '220*'05'/( Nat Genet  : '55-'2', '225*'05'.( Diabetologia  : /+(-/+3, '22/*.(5520 Nat Genet  : 222-'((+, +((/Nat Genet  : '((0-'((3, +((/*.(0)20 Nat Genet  : +20-+2., '222
Nat Genet  : +23-0(', '222*.(/535 Nat Genet  : 05/-02+, +((+*.(/0++ Nat Genet  : /.+-/.), '222

Solute carrier family '2, member 0
Solute carrier family +)(mitochondrial deoxynucleotide
carrier), member '2
Solute carrier family ++(organic
cation transporter), member )Solute carrier family +), member'0(citrin)
Solute carrier family +)(mitochondrial carrier,ornithine transporter), member')
Solute carrier family .
(neurotransmitter transporter,
creatine), member 5*.(.')+ Am J Hum Genet  : '.-+., +(()*.(.)+' Nat Genet  : '3)-'32, +((+

Acyl-CoA dehydrogenase family,
member 2
Prenyl diphosphate synthase,subunit 'Prenyl diphosphate synthase,subunit +Leucine-rich PPR-motif
containing
Mitochondrial elongation factor
G'
Tu translation elongation factor,
mitochondrial
Aspartyl-tRNA synthetase,mitochondrial*.'''(0 Am J Hum Genet  : 53-'(0, +((3*.(0033 Nat Genet  : 2'-2/, '222
Hum Mol Genet  : .))-..(, '222*.(05)2 Nat Genet  : ')2-'.0, '222*.(05.' Nat Genet  : ')'-')5, '222*0(((0. Am J Hum Genet  : '/23-')((, +(('

ミトコンドリア脳筋症・エネルギー代謝*.(3/+2 J Clin Invest  : 3.)-33+, +((3*.'()./ Am J Hum Genet  : ''+)-''+2, +((.
*.(3)// Pro Natl Acad Sci : .()-.'(, +((0*.(..02 N Engl J Med   : +(5(-+(5., +((/*.(+052 Am J Hum Genet  : //-)5, +((3*.'(2). Nat Genet  : )0/-)02, +((3Deoxyguanosine kinase*.('/.) Nat Genet  : 003-0/', +(('

Thymidine kinase-+,mitochondrial
Succinate-CoA ligase, alphasubunit
Succinate-CoA ligase, ADPforming, beta subunit*'55+)( Nat Genet  : 0/+-0//, +(('

Electron-transfer-ﬂavoprotein,alpha polypeptide(glutaric
aciduria II)
Electron-transfer-ﬂavoprotein,beta polypeptide*.(5)(0 Am J Hum Genet  : )3)-)5(, '22'

Electron-trasferring-ﬂavoprotein
dehydrogenase*+0'.3) Clin Res  : +3'A, '220*.''++/ Am J Hum Genet  : 050-053, +((3*.(02+' Am J Hum Genet  : '(5-'(5., +(()*'0(/'( Hum Mol Genet  : /+2-/0), '22/

疾患遺伝子一覧
疾患

遺伝子

文献
MIM
*'.'(') Nat Genet  : +.(-+.', '222

疾患名
Mitochondrial complex I deﬁciency

MIM#+)+('(

遺伝形式
AR

染色体座
''q'0

遺伝子記号
NDUFV1

Complex I deﬁciency withcardiomyopathy andencephalomyopathy#+)+('(AR'q+0

NDUFS2

Mitochondrial complex I deﬁciency#+)+('(

AR)q''.'NDUFS4

Leigh syndrome due to complex I
deﬁciency#+).(((AR'2p'0

NDUFS7

Leigh syndrome due to complex I
deﬁciency#+).(((AR''q'0

NDUFS8Leigh syndrome due to complex II
deﬁciency#+).(((

AR

)p')

SDHA

Complex III deﬁciency with tubulopathy,
encephalopathy and liver failure
Cytochrome c oxidase deﬁciency withneonatal-onset hepatic failure andencephalopathy
Cardioencephalomyopathy, fatal infantile,
due to cytochrome c oxidase deﬁciency
Leigh syndrome due to cytochrome coxidase deﬁciency
Isolated leukodystrophy
Deﬁciency of mitochindrial respiratory
chain complex IV(Cytochrome coxidase deﬁciency)#'+/(((

AR

+q00

BCS1L

#++(''(

AR'3p'0.'SCO1

SCO(cytochrome oxidase
deﬁcient, yeast)homolog '*.(0.// Am J Hum Genet  : ''(/-''(2, +(((#.(/033

AR

++q'0

SCO2

AR

2q00-q0/

SURF1

SCO(cytochrome oxidase
deﬁcient, yeast)homolog +Surfeit '*.(/+3+ Nat Genet  : 000-003, '222#+).(((#++(''(

ARAR

2q00-q0/
'3p'+

SURF1
COX10

mtDNA
mtDNA
mtDNA

MTND6
MTND4
MTND1

Leber optic atrophy and dystonia#)(((('

Cytochrome c oxidase II deﬁciency

遺伝子名
NADH dehydrogenase(ubiquinone)ﬂavoprotein ',)'kD
NADH dehydrogenase(ubiquinone)Fe-S protein +,/2kD(NADH-coenzyme Q
reductase)
NADH dehydrogenase(ubiquinone)Fe-S protein /,'5kD(NADH-coenzyme Q
reductase)
NADH dehydrogenase(ubiquinone)Fe-S protein 3,+(kD(NADH-coenzyme Q
reductase)
NADH dehydrogenase(ubiquinone)Fe-S protein 5,+0kD(NADH-coenzyme Q
reductase)
Succinate dehydrogenase
complex, subunit A,
ﬂavoprotein(Fp)BCS'-like(yeast)

Surfeit 'COX'((yeast)homolog,
cytochrome c oxidase assembly
protein(heme A :farnesyltransferase)
Complex I, subunit ND.
Complex I, subunit ND/
Complex I, subunit ND'

mtDNA

MTCO2

Cytochrome c oxidase deﬁciency*)'.()(

mtDNA

MTCO3

Leigh syndrome due to ATP synthase(complex V). deﬁcinecy/
Neuronal muscle weakness, ataxia andretinitis pigmentosa(NARP)
Mitochondrial myopathy, encephalopathy,
lactic acidosis, and stroke-like episodes(MELAS)
Myoclonic epilepsy associated withragged-red ﬁbers(MERRF)＋)'.(.(

mtDNA

MTATP6

Complex IV, cytochrome coxidase subunit II
Complex IV, cytochrome coxidase subunit III
ATP synthase F( subunit .

#)/((((

mtDNA

MTTL1

tRNA leucine '(UUA/G)#)/)(((

mtDNA

MTTK

tRNA lysine#)/)(((

mtDNA
mtDNA

MTTL1
MTCYB

tRNA leucine '(UUA/G)
Cytochrome b of complex III#)0((((

mtDNA

Mitochondrial encephalomyopathy due tocomplex III deﬁciency
Kearns-Sayre syndrome(KSS), Chronic
progressive ophthalmoplegia(CPEO)
with myopathy*.(+25) Ann Neurol  : '2)-+(', +(('*.(+.2/ Am J Hum Genet  : +.+-+.5, '225*.('5+) Am J Hum Genet  : ')()-')'(, '222*.(+'/' Am J Hum Genet  : ')25-'.(5, '225*.((5)3 Nat Genet  : '//-'/2, '22)*.(0./3 Nat Genet  : )3-.(, +(('*'5).+( Nat Genet  : 003-0/0, '225
Am J Hum Genet  : '.(2-'.+', '225*'5).+( Ann Neurol  : 323-5((, +(('*.(+'+) Hum Mol Genet : '+/)-'+/2, +(((*)'.((. Proc Natl Acad Sci  : .+(.-.+'(, '22/*)'.((0 Am J Hum Genet  : 3(0-3'', '22.
*)'.((( Arch Neurol  : 52(-520, +((3Neurogenetics  : '22-+(), +((0*)'.(/( Am J Hum Genet  : '(0(-'(02, '222*)'.()( Nat Genet  : /'(-/'., '22.
*)'.(.( Am J Hum Genet  : /+5-/++, '22(#))')((*)2(()( Nature  : .)'-.)0, '22(
Biochem Biophys Res Commun  : 5'.-5++,'22(*)2((.( Cell  : 20'-203, '22(
Biochem Int  : 352-32., '22(*)2(()( J Clin Invest  : +2(.-+2'), '220*)'.(+( Am J Hum Genet  : '/((-'/'(, +(((
Lancet I : 55), '255

ペルオキシソーム形成障害
A群
Zellweger syndrome
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Peroxisome biogenesis disordercomplementation group '[E]Peroxisome biogenesis disordercomplementation group +Peroxisome biogenesis disordercomplementation group 0
Peroxisome biogenesis disordercomplementation group /[C]Peroxisome biogenesis disordercomplementation group 3[B]Peroxisome biogenesis disordercomplementation group 2[D]Peroxisome biogenesis disordercomplementation group '([F]Peroxisome biogenesis disorder,
complementation group G(Zellweger syndrome,complementation group G)#+'/'((#+..)'(#+(+03(＋.(+'0.

AR

3q+'.+

PEX1

Peroxisome biogenesis factor '#.(')02AR'+p'0.0

PEX5

peroxisomal biogenesis factor )＋.(+'0. Nat Genet  : //)-//5, '223
Nat Genet  : //2-/)+, '223*.((/'/ Nat Genet : '')-'+), '22)＋.('3)5AR'3q+'.'

PEX12

Peroxisome biogenesis factor '+＋.('3)5 Nat Genet  : 05)-055, '223＋.('/25

AR.p+'.'

PEX6

Peroxisomal biogenesis factor .

＋.(+5)2

AR'p0..0+PEX10Peroxisome biogenesis factor '(＋.('/25 Am J Hum Genet: '+'(-'++(, '22.
EMBO J  : +2'/-+2+0, '22.
＋.(+5)2 Am J Hum Genet  : '.++-'.0(, '225＋.(00.(

AR

''p

PEX16

Peroxisome biogenesis factor '.

＋.(00.( Am J Hum Genet  : '.++-'.0(, '225＋'3(220AR

5q+'.'

PXMP3#+'/'((

AR.q+0-q+/PEX3Peroxisomal membrane protein 0, ＋'3(220 Science  : ''0+-''0/, '22+0)kD(Zellweger syndrome)
Peroxisome biogenesis factor 0*.(0'./ Hum Mol Genet : '22)-'222, +(((Am J Hum Genet  : 2.3-23), +(((Am J Hum Genet  : 23.-25', +(((

B群
Rhizomeric chondrodysplasia punctata
type '(RCDP')
Peroxisome biogenesis disordercomplementation group '' #+')'((

AR.q++-q+/PEX7Peroxisomal biogenesis factor 3*.('3)3＋.('3)3AR.q++-q+/PEX7Peroxisomal biogenesis factor 3＋.('3)3 Nat Genet  : 0.2-03., '223
Nat Genet  : 033-05(, '223
Nat Genet  : 05'-05/, '223*.('3)3 Am J Hum Genet  : /3'-/33, +((0Refsum disease#+..)((

AR.q++-q+/PEX7Peroxisome biogenesis factor 3

リピドーシス#+..)((

AR

'(p'0

PHYH

phytanoyl-CoA +-hydroxylase*.(+(+. Nat Genet  : '2(-'20, '223

Gaucher disease, type I#+0(5((

AR

'q+'

GBA

Glucosidase, beta ; acid(including
glucosylceramidase)*.(./.0 New Engl J Med  : )3(-)3), '253 

疾患遺伝子一覧
疾患

遺伝子
遺伝子名
Glucosidase, beta ; acid(including
glucosylceramidase)
Glucosidase, beta ; acid(including
glucosylceramidase)Sphingomyelin phosphodiesterase', acid lysosomal(acidsphingomyelinase)

MIM*.(./.0

文献

疾患名Gaucher disease, type II

MIM#+0(2((

遺伝形式
AR

染色体座
'q+'

遺伝子記号
GBA

Gaucher disease, type III#+0'(((

AR

'q+'

GBA

Niemann-Pick disease, types A, B and E(Sphigomyelin lipidosis)#+)3+((AR''p')./-p').'NPC1

Niemann-Pick disease, type C'(NPC')
Niemann-Pick disease, type C+(NPC+)
Frontal lobe atrophy due to a mutauon in
NPC+
Fabry disease(Angiokeratoma corporis
diﬀusum)
Beata-galactosidase-'(GLB')deﬁciency#+)3++(#.(3.+)#.(3.+)

AR
AR
AR'5q''-q'+'/q+/.0'/q+/.0

NPC1
NPC2
NPC2

Niemann-Pick disease, type C'
Niemann-Pick disease, type C+
Niemann-Pick disease, type C+*.(3.+0 Proc Natl Acad Sci  : 03/5-03)+, '22'
Biochem Biophys Res Commun  : ''53-''2','22'
J Clin Invwst  : 5(.-5'(, '22'*.(3.+0 Science  : ++5-+0', '223*.('(') Science  : ++25-+0(', +(((*.('(') Ann Neurol  : 3/0-3/2, +((+

#0(')((XR

Xq+'.0-q++

GLA

Galactosidase, alpha*0((.// J Clin Invest  : '02(-'022, '252#+0()((

AR

0p+'.00

GLB1

Galactosidase, beta 'GM' gangliosidosis, type I
Morquio syndrome B
GM' gangliosidosis, type II
GM' gangliosidosis, type III
Tay-Sachs disease(TSD ; GM+
gangliosisdosis type I)
Tay-Sachs disease, AB variant(GM+gangliosidosis type AB)
Sandhoﬀ disease(GM+ gangliosidosis typeII)#+0()((#+)0('(#+0(.((#+0(.)(#+3+5((*.''/)5 Am J Hum Genet  : )..-)3/, '22'
Am J Hum Genet  : /0)-//+, '22'
Am J Hum Genet  : '(2'-'(20, '22'AR')q+/.'

HEXA＋+3+3)(

AR)q0'.0-q00.'

GM2A

Hexosaminidase A(alpha*.(.5.2 Scienece  : './.-'./5, '25.
polypeptide)GM+ ganglioside activator protein ＋+3+3)( FEFS Lett  : '-0, '22'#+.55((

AR)q'0.0HEXB

Hexosaminidase B(betapolypeptide)++q'0.0'qter'(q++.'ARSA

Arylsulfatase A*.(3)3/ Proc Natl Acad Sci  : 2/0.-2//(, '252

PSAP

Prosaposin*'3.5(' Proc Natl Acad Sci  : +)/'-+)//, '22(

Galactosylceramidase(Krabbedisease)Aspartoacylase(aminoacylase +,Canavan disease)
Glial ﬁbrillary acidic protein
Proteolipid protein '*.(.52( Biochem Biophys Res Commun   : /5)-/2','22/*.(5(0/ Nat Genet : ''5-'+0, '220*.(./.0*.(.530 J Biol Chem  : )'))-)')5, '252
Hum Genet  : +53-+55, '252

白質ジストロフィー・白質脳症
Metachromatic leukodystrophy(MLD)#+)('((

AR

Metachromatic leukodystrophy due tosaposin B deﬁciency
Krabbe disease(Globoid cellleukodystrophy)
Canavan disease#+/22((

AR#+/)+((

AR

'/q0'

GALC

#+3'2((

AR'3p'0.0

ASPA

Alexander disease
Pelizaeus-Merzbacher disease(PMD)#+(0/)(#0'+(5(

AR
XR

'3q+'
Xq++

GFAP
PLP1

Leukoencephalopathy with vanishingwhite matter(VWM)
Leukoencephalopathy with vanishingwhite matter(VWM)
Leukoencephalopathy with vanishingwhite matter(VWM)
Leukoencephalopathy with vanishingwhite matter(VWM)
Leukoencephalopathy with vanishingwhite matter(VWM)#.(052.

AR'+q+/.0

EIF2B1#.(052.

AR'/q+/.0

EIF2B2#.(052.

AR'p0/.'

EIF2B3#.(052.

AR+p+0.0EIF2B4#.(052.

AR

0q+3.0EIF2B5Cree leukoencephalopathy(CLE)#.(052.

AR

0q+3.0EIF2B5

Megalencephalic leukoencephalopathy
with subcortical cysts(MLC)#.(/((/

AR++q'0.00

MLC1

Polycystic lipomembranous
osteodysplasia with sclerosing
leukoencephalopathy(PLOSL)
Ribose )-phosphate isomerase deﬁciency#++'33(AR'2q'0.'TYROBP#.(5.''

AR+p''.+

RPIA#'.2)((

AD)q+0.0-q0'.'

LMNB1

Ribose )-phosphate isomerase A(ribose )-phospate epimerase)
Lamin B'*'5(/0( Am J Hum Genet  : 3/)-3)', +((/

Leukodystrophy, demyelinating, adultonset, autosomal dominant
Leukencephalopathy with dystonia andmotor neuropathy, SCPx-deﬁcient
Aicardi-Goutieres syndrome '(AGS')
Aicardi-Goutieres syndrome +(AGS+)
Aicardi-Goutieres syndrome 0(AGS0)
Aicardi-Goutieres syndrome /(AGS/)
Aicardi-Goutieres syndrome )(AGS))
Retinal vasculopathy with cerebral
leukodystrophy
Leukodystrophy, dysmyelinating, andspastic paraparesis with or without
dystonia
Leukodystrophy, hypomyelinating, )*'5/3))

AR

'p0+

SCP2

Sterol carrier protein +*'5/3)) Am J Hum Genet  : '(/.-'()+, +((.

#++)3)(#.'('5'#.'(0+2#.'(000#.'(2()#'2+0')

AR
AR
AR
AR
AD
AD

#.'+//0

AR

'.q+0

FA2H

#.'()0+AR3p').0

Mucolipidosis IV(MLIV)#+)+.)(AR

Neuraminidase deﬁciency#+).))(

Neuraminidase deﬁciency with betagalactosidase deﬁciency
Fucosidosis
Mannosidosis, alpha B, lysosomal
Mannosidosis, beta A, lysosomal

Eukaryotic translation initiation
factor +B, subunit ' alpha, +.kD
Eukaryotic translation initiation
factor +B, subunit + beta, 02kD
Eukaryotic translation initiation
factor +B, subunit 0 gamma
Eukaryotic translation initiation
factor +B, subunit / delta
Eukaryotic translation initiation
factor +B, subunit ) epsilon,
5+kD
Eukaryotic translation initiation
factor +B, subunit ) epsilon,
5+kDa
Megalencephalicleukoencephalopathy with
subcortical cysts 'TYRO protein tyrosine kinasebinding protein

0p+'.0-p+'.+TREX1Three prime repair exonuclease ''0q'/-q+' RNASEH2B Ribonuclease H+, subunit B''q'0.+RNASEH2C Ribonuclease H+, subunit C'2p'0.'0
RNASEH2A Ribonuclease H+, subunit A
0p+'.0-p+'.+TREX1Three prime repair exonuclease '0p+'.0-p+'.+TREX1Three prime repair exonuclease '*'0335( Nat Genet  : ''3-'+(, +(('
*0((/(' Am J Hum Genet  : /0)-//+, '252
Am J Hum Genet  (Suppl): A'.2, '252
Proc Natl Acad Sci  : 5'+5-5'0', '252*.(..5. Ann Neurol  : +./-+3(, +((+*.(./)/ Nat Genet  : 050-055, +(('*.(.+30 Ann Neurol  : +./-+3(, +((+*.(..53 Ann Neurol  : +./-+3(, +((+*.(02/) Nat Genet  : 050-055, +(('*.(02/) Ann Neurol  : )(.-)'(, +((+*.()2(5 Am J Hum Genet  : 50'-505, +(('*.(/'/+ Nat Genet  : 0)3-0.', +(((*')(0/( Nat Genet  : '''/-''+0, +((.

*.(..(2*.'(0+.
*.'(00(*.(.(0/*.(..(2*.(..(2Nat Genet  : 2'3-2+(, +((.
Nat Genet  : 2'(-2'., +((.
Nat Genet  : 2'(-2'., +((.
Nat Genet  : 2'(-2'., +((.
Am J Hum Genet  : 5''-5'), +((3Nat Genet  : '(.5-'(3(, +((3Fatty acid +-hydroxylase*.''(+. Am J Hum Genet  : ./0-./5, +((5FAM126A

Family with sequence similarity'+., member A*.'()0' Nat Genet  : ''''-'''0, +((.

'2p'0.0-p'0.+

MCOLN1

Mucolipin '

AR

.p+'

NEU1

*.()+/5 Nat Genet  : '+(-'+0, +(((Hum Mol Genet : +/3'-+/35, +(((Am J Hum Genet  : '''(-''+(, +(((*.(5+3+ Nat Genet  : 0'.-0+(, '223＋+).)/(

AR+(q'0.'+CTSA#+0((((#+/5)((

AR
AR

'p0/
'2cen-q'0.'

FUCA1
MAN2B1#+/5)'(

AR/q++-q+)MANBA

ムコリピドーシスその他

Neuraminidase '(lysosomal
sialidase)cathepsin A
Fucosidase, alpha-L-', tissue
Mannosidase, alpha, class +B,
member 'Mannosidase, beta A, lysosomal＋+).)/( Proc Jpn Acad B : +'3-+++, '22(*.'++5( J Mol Neurosci  : '33-'5(, '252*.(2/)5 Hum Mol Genet  : 3'3-3+., '223*.(2/52 Hum Mol Genet  : 3)-50, '225

疾患遺伝子一覧
疾患

遺伝子

疾患名
Aspartylglucosaminuria

MIM＋+(5/((

遺伝形式
AR

染色体座
/q0/.0

遺伝子記号
AGA

遺伝子名
Aspartylglucosaminidase

Schindler disease, type I#.(2+/'

AR++q'0-qter

NAGA

N-acetylgalactosaminidase,alpha-

Hurler syndrome#.(3('/

AR/p'..0IDUA

Iduronidase, alpha-L

Mucopolysaccharidosis type II＋0(22((XR

Xq+3.0-q+5

IDS

文献
MIM
＋+(5/(( Proc Natl Acad Sci  : ''+++-''++., '22'
J Biol Chem  : '+'()-'+''0, '22'
Genomics  : +(.-+'', '22'*'(/'3( J Clin Invest  : '3)+-'3)., '22(

酸性ムコ多糖症*+)+5(( Hum Mutat  : '(0-'(5, '22+
Hum Mutat  : 000-002, '22+
Hum Genet  : +()-+(., '22'

Mucopolysaccharidosis type IIIA#+)+2((

AR'3q+).0

SGSH

copolysaccharidosis type IIIB#+)+2+(

AR'3q''-q+'

NAGLU

Mucopolysaccharidosis type IIIC#+)+20(AR

5p''.'HGSNAT

Morquio syndrome A#+)0(((

AR'.q+/.0

GALNS

Mucopolysaccharidosis type VI
Mucopolysaccharidosis type VII#+)0+((#+)0++(

AR
AR)q''-q'0
3q''.+'ARSB
GUSB

Iduronate +-sulfatase(Hunter＋0(22((
syndrome)
N-sulfoglucosamine*.()+3(
sulfohydrolase(sulfamidase)
N-acetylglucosaminidase, alpha*.(23('(Sanﬁlippo disease IIIB)
Heparan-alpha-glucosaminide N- *.'(/)0
acetyltransferase*.'++++
Galactosamine(N-acetyl)-.sulfate sulfatase(Morquio
syndrome,mucopolysacchridosis IVA)
Arylsulfatase B*.'')/+
Glucuronidase, beta*.''/22

Congenital disorder of glycosylation, typeIa(CDG'A)
Congenital disorder of glycosylation, typeIb(CDG'B)
Congenital disorder of glycosylation, type
Ic(CDG'C)#+'+(.)

AR

'.p'0

PMM2

Phosphomannomutase +*.('35) Nat Genet  : 55-2+, '223#.(+)32

AR')q++-qter

MPI

Mannose phosphate isomerase#.(0'/3

AR'p0'.0

ALG6*')/))( Am J Hum Genet  : ')0)-')02, '225
J Clin Invest   : '/'/-'/+(, '225*.(/).. Proc Natl Acad Sci  : .25+-.253, '222

Congenital disorder of glycosylation, typeId(CDG'D)#.('''(

AR

0q+3.0ALG3Congenital disorder of glycosylation, typeIe(CDG'E)#.(5322AR+(q'0.'

DPM1

Congenital disorder of glycosylation, typeIf(CDG'F)
Congenital disorder of glycosylation, type
Ik(CDG'K)#.(2'5(AR'3p'0.'-p'+MPDU1#.(5)/(

AR'.p'0.0

ALG1

Congenital disorder of glycosylation, typeIIa(CDG+A)#+'+(..

AR

'/q+'

MGAT2

Congenital disorder of glycosylation, type
IIb(CDG+B)
Congenital disorder of glycosylation, type
IIc(CDG+C)
Congenital disorder of glycosylation, type
IId(CDG+D)#.(.().

AR+p'0.'

MOGS#+..+.)

AR''p''.+

SLC35C1#.(3(2'AR

2p'0

B4GALT1

Congenital disorder of glycosylation, type
IIh(CDG+H)#.'''5+AR'.q++.'

COG8

Asparagine-linked glycosylation., alpha-', 0glucosyltransferase homolog(S.
cerevisiae)[Dolichyl pyrophosphate Man 2
GlcNAc + a', 0glucosyltransferase]
Asparagine-linked glycosylation 0
homolog(yeast, alpha-', 0mannosyltransferase)
Dolichyl-phosphatemannosyltrasferase polypeptide', catalytic subunit
Mannose-P-dolichol utilization
defect 'Asparagine-linked glycosylation 'homolog(yeast, beta-', /mannosyltransferase)
Mannosyl(alpha-', .-)glycoproyein beta-', +-Nacetylglucosaminyltransferase
mannosyl-oligosaccharide
glucosidase
Solute carrier family 0), member
C'
UDP-Gal : beta GlcNAc beta ', /galactosyltransferase,polypeptide 'Component of oligomeric Golgi
complex 5

Ceroid lipofuscinosis, neuronal, '(CLN')#+).30(

AR

'p0+

PPT1

Ceroid lipofuscinosis, neuronal, +(CLN+)#+(/)((

AR

''p')

TPP1

Ceroid lipofuscinosis, neuronal, 0(CLN0)#+(/+((

AR

'.p'+

CLN3

Ceroid lipofuscinosis, neuronal, )(CLN))
Ceroid lipofuscinosis, neuronal, .(CLN.)#+).30'#.('35(AR
AR'0q+'.'-q0+
')q+0

CLN5
CLN6

Ceroid lipofuscinosis, neuronal, 3(CLN3)#.'(2)'

AR/q+5.'-q+5.+

MFSD8

Ceroid lipofuscinosis, neuronal, 5(CLN5)#.(('/0

AR

5p+0

CLN8

Nat Genet  : /.)-/.3, '22)
Am J Hum Genet (suppl): A'5), '22)
Proc Natl Acad Sci  : .'('-.'(), '22..
Am J Hum Genet  : 305-3//, +((.
Am J Hum Genet  : 5(3-5'2, +((.
J Clin Invest: '(/2-'()0, '22+

J Biol Chem  : +'05.-+'02', '22'
Am J Hum Genet  : 52-2., '22'

グリコシレーション異常*.(53)( EMBO J  : .5'.-.5++, '222*.(0)(0 J Clin Invest 
J Clin Invest : '2'-'25, +(((
: ++0-+02, +(((*.(/(/' J Clin Invest   : '.'0-'.'2, +(('J Clin Invest   : '.53-'.2), +(('*.()2(3 Am J Hum Genet  : /3+-/5', +((/Am J Hum Genet  : )/)-))', +((/Hum Mol Genet  : )0)-)/+, +((/*.(+.'. Am J Hum Genet: 5'(-5'3, '22.

*.('00. Am J Hum Genet  : '3//-'3)., +(((*.()55' Nat Genet  : 30-3., +(('*'03(.( J Clin Invest : 3+)-300, +((+*.(.232 Hum Molec Genet  : 3'3-30(, +((3Hum Molec Genet  : 30'-3/', +((3神経セロイドリポフスチン蓄積症
Palmytoyl-protein thioesterase '(ceroid-lipofuscinosis, neuronal', infantile)
Ceroid-lipofuscinosis, neuronal +,late infantile(JanskyBielschowsky disease)
Ceroid-lipofuscinosis, neuronal 0,juvenile(Batten, SpielmeyerVogt disease)
Ceroid-lipofuscinosis, neuronal )Ceroid-lipofuscinosis, neuronal,
late infantile, variant
Major facilitator superfamily
domain-containing protein 5
Ceroid-lipofuscinosis, neuronal 5(epilepsy, progressive, withmental retardation)*.((3++ Nature  : )5/-)53, '22)*.(3225 Science  : '5(+-'5(), '223*.(3(/+ Cell  : 2/2-2)3, '22)*+3.30' Nat Genet  : +5.-+55, '225*.(.3+) Am J Hum Genet  : 0+/-00), +((+Am J Hum Genet  : )03-)/+, +((+*.'''+/ Am J Hum Genet  : '0.-'/., +((3*.(3503 Nat Genet  : +00-+0., '222

DNA 合成・修復障害
Xeroderma pigmentosum,
complementation group A(XPA)
Xeroderma pigmentosum,
complementation group B(XPB)

Xeroderma pigmentosum,
complementation group D(XPD)#+353((

AR

2q++.0

XPA#.'(.)'

AD

+q+'

ERCC3

#+3530(AR'2q'0.+-q'0.0

ERCC2

Xeroderma pigmentosum,
compementation group A
Excision repair crosscomplementing rodent repair
deﬁciency, complementationgroup 0(xeroderma
pigmentosum B
complementing)Excision repair crosscomplementing rodent repair
deﬁciency, complementationgroup + D)*.''')0 Nature  : 30-3., '22(*'00)'( Cell  : 333-32', '22(*'+.0/( Nat Genet  : '52-'2/, '22/
Hum Mol Genet  : '350-'355, '22/

疾患遺伝子一覧
疾患

遺伝子

疾患名
Xeroderma pigmentosum,
complementation group G(XPG)

MIM#+3535(

遺伝形式
AR

染色体座
'0q++-q0/

遺伝子記号
ERCC5

遺伝子名
Excision repair crosscomplementing rodent repair
deﬁciency, complementationgroup ) pigmentosum,
complementaion group G(Cockayne syndrome)
Excision repair crosscomplementing rodent repair
deﬁciency, complementationgroup 5
Excision repair crosscomplementing rodent repair
deﬁciency, complementationgroup .
NibrinCockayne syndrome, type A(CSA)#+'./((

AR)q'+.'

ERCC8

Cockayne syndrome, type B(CSB)#'00)/(

AR

'(q''

ERCC6

Nijmegen breakege syndrome(Ataxiatelangiectasia variant VI)#+)'+.(

AR

5q+'-q+/NBN

Werner syndrome#+333((

AR

5p'+

WRN

Hutchinson-Gilford progeria syndrome(HGPS)#'3..3(

AR

'q++
'q++

LMNA
LMNA

Chediak-Higashi syndrome(CHS')#+'/)((

AR'q/+.'-q/+.+

LYST

Lysosomal traﬃcking regulator

Chronic infantile neurological cutaneousand articular(CINCA)syndrome
Trimethylaminuria(ﬁsh-odour
syndrome)
Cold-induced sweating syndrome(CISS)
Angioedema, hereditary(HAE)#.(3'') AD/de novo

'q//

NLRP3

#.(+(32

AR'q+/.0

FMO3#+3+/0(#'(.'((

AR
AD

'2p'+
''q''-q'0.'

CRLF1
SERPING1

Angioedema, hereditary, type III(HAE
III)#.'(.'5AD)q00-qter

F12

NLR family, pyrin domain
containing 0
Flavin containing monooxygenase0
Cytokine receptor-like factor 'Serpin peptidase inhibitor, clade G(C' inhibitor), member 'Coagulation factor XII(Hageman
factor)Incontinentia pigmenti, type II(IP+)#0(50'(

XD

Xq+5

IKBKG

Werner syndrome, RecQ helicaselike
Lamin A/C
Lamin A/C

文献
MIM*'00)0( Hum Mol Genet  : 2.0-2.3, '22/*.(2/'+ Cell  : )))-)./, '22)＋.(2/'0 Cell  : 202-2)0, '22+*.(+..3 Cell  : /.3-/3., '225
Cell  : /33-/5., '225
Nat Genet  : '32-'5', '225*.(/.'' Science  : +)5-+.+, '22.
*')(00( Lancet  : /'.-/'3, +((0*')(00( Nature  : +20-+25, +((0.

その他

Inhibitor of kappa light
polypeptide gene enhancer in
B-cells, kinase gamma*.(.523 Nature  : +.+-+.), '22.
Nat Genet  : 0(3-0'', '22.
*.(./'. Am J Hum Genet  : '25-+(0, +((+*'0.'0+ Nat Genet  : /2'-/2/, '223*.(/+03 Am J Hum Genet  : 03)-050, +((0*.(.5.( J Biol Chem  : 0(..-0(3', '252
J Clin Invest  : '555-'520, '252*.'(.'2 Biochem Biophys Res Commun  : '+5.-'+52,+((.
Am J Hum Genet  : '(25-''(/, +((..
*0((+/5 Nature  : /..-/3+, +((('．疾患名：疾患名は原則として“Mendelian Inheritance in Man”に準拠。“Mendelian Inheritance in Man”は Online Mendelian Inheritance in Man TM(OMIM TM)として公開されている[Cfg]。
+．MIM : “Menderian Inheritance in Man”での番号。
0．遺伝形式：AD：常染色体優性，AR：常染色体劣性，XD：X 連鎖優性，XR：X 連鎖劣性，de novo：新生突然変異/．遺伝子：遺伝子記号及び遺伝子名は，HUGO Gene Nomenclature Committee[Cfi]に準拠。ヒトの遺伝子は大文字イタリックで記載するのが正規の記載法。