Phenotype: Peripheral demyelination (HP:0011096)
Associated genes and diseases:
gene_symbol: MT-ND1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND2
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND3
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND4
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TL1
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TW
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TV
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND5
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-ND6
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TK
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: NDRG1
disease_id: OMIM:601455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
gene_symbol: NEFL
disease_id: OMIM:607734
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
gene_symbol: PRPS1
disease_id: OMIM:311070
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
gene_symbol: SBF2
disease_id: OMIM:604563
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2
gene_symbol: DNM2
disease_id: OMIM:606482
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B
gene_symbol: LITAF
disease_id: OMIM:601098
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C
gene_symbol: GBF1
disease_id: OMIM:606483
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: KIF1C
disease_id: ORPHA:397946
disease_name: Autosomal spastic paraplegia type 58
Autosomal spastic ataxia type 2
SPAX2
SPG58
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
gene_symbol: MPZ
disease_id: OMIM:118200
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
gene_symbol: MPZ
disease_id: OMIM:607736
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J
gene_symbol: MPZ
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: MAT1A
disease_id: OMIM:250850
disease_name: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY
gene_symbol: ARHGEF10
disease_id: OMIM:608236
disease_name: SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: GDAP1
disease_id: ORPHA:99944
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2K
CMT2K
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: PSAP
disease_id: OMIM:249900
disease_name: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: PLP1
disease_id: ORPHA:280234
disease_name: Null syndrome
PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome
gene_symbol: GNB4
disease_id: OMIM:615185
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
gene_symbol: PMP2
disease_id: OMIM:618279
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: COQ7
disease_id: OMIM:616733
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 8
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: PRX
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: PMP22
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: EGR2
disease_id: OMIM:145900
disease_name: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA