Hereditary Diseases of Bone, Brain, Metabolism, Muscle, and Nerve (links are to articles on or ) Disease Inheritance Defect Bone (Type IA, Houston-Harris) Type IB (Parenti-Fraccaro) Type II Autosomal recessive Autosomal recessive Autosome dominant diastrophic dysplasia sulfate transporter (SLC26A2) type II collagen (COL2A1) (hypochondroplasia and thanatophoric dysplasia) Autosomal dominant fibroblast growth factor receptor (FGFR3) sporatic fibroblast growth factor receptor 2 (FGFR2) X-linked dominant 3beta-hydroxy sterol dehydrogenase (NSDHL) X-linked dominant Ribosomal protein S6 kinase (RPS6KA3) sporatic X-linked dominant Autosomal dominant Nipped-B (NIPBL) SMC1A SMC3 Autosomal dominant fibroblast growth factor receptor 2 (FGFR2) Autosomal dominant GS activation domain of activin receptor Ia/activinlike kinase 2 (ACVR1/ALK2) noninherited postzygotic activating mutation of Gs alpha (Type I,II, III, IV) Autosomal dominant type I procollagen (COL1A1, COL1A2) Brain Autosomal dominant chromodomain helicase DNA-binding protein-7 (CHD7) (SCA1) SCA2 SCA3 SCA4 SCA5 SCA6 SCA7 SCA8 SCA10 SCA11 SCA12 SCA14 SCA17 SCA27 Autosomal dominant ataxin-1 (ATXN1) ataxin-2 (ATXN2) ataxin-3 (ATXN3) secretory carrier-associated membrane protein 4 (SCA4) SPTBN2 a1A subunit of the calcium channel (CACNA1A) ataxin-7 (ATXN7) KLHL1AS ataxin-10 (ATXN10) SCA11 protein phosphatase 2A (PPP2R2B) KCNC3 protein kinase C gamma type (PRKC) Autosomal recessive frataxin (FRDA1)
Type I Type II Type III Type IV X-linked Autosomal dominant / Autosomal recessive KAL1 FGFR1 PROKR2 PROK2 Autosomal recessive cystatin B (CST6) Autosomal recessive lysosomal pepstatin insensitive protease Maternal mt-DNA mutations affecting tRNALys Autosomal recessive Autosomal dominant X-linked ataxin-1,-2,-7 X-linked proteolipid protein 1 (PLP1) Autosomal recessive cystatin B (CST6) Metabolism Autosomal dominant porphobilinogen deaminase Autosomal recessive Arginase Autosomal recessive Argininosuccinate lyase Autosomal recessive Argininosuccinic acid synthase Autosomal recessive biotinidase Autosomal recessive Carbamoyl phosphate synthetase Autosomal recessive carnitine palmitoyltransferase 1A (CPT1A) Autosomal recessive phosphomannomutase (PMM2) Autosomal recessive protein kinase (CABC1 or ADCK3) Autosomal recessive sterol 27-hydoxylase (CYP27A1) Autosomal recessive sterol 27-hydoxylase (CYP27A1) Autosomal recessive beta-glucocerebrosidase Autosomal dominant Glucose transport protein 1 (SLC2A1) Glycogenoses Type VIII Type IX Type X Type XI Type XII Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive X-linked recessive X-linked recessive Autosomal recessive Autosomal recessive Autosomal recessive glucose-6-phosphatase acid maltase debrancher enzyme brancher enzyme muscle phosphorylase liver phosphorylase phosphorylase b kinase phosphoglycerate kinase phosphoglycerate mutase lactate dehydrogenase aldolase A Autosomal recessive hexoaminidase A or of the GM2 protein activator Autosomal recessive pantothenate kinase
sporatic (PANK2) Autosomal recessive sodium-dependent and chloride-independent neutral amino acid transporter (SLC6A19) Autosomal recessive cystathionine-beta-synthase (CBS) (MTHFR, MTR, MTRR, and MMADHC) Autosomal dominant huntingtin (CAG repeats) Autosomal recessive hepatic hydroxyglutaric acid dehydrogenase (L2HGDH) Autosomal recessive galactosylceramide Autosomal recessive protein tyrosine phosphatase (laforin) Autosomal recessive maternal (mDNA) pyruvate dehydrogenase complex I complex II complex III cytochrome oxidase C mitochondrial ATPase 6 X-linked recessive hypoxanthine-guanine phosphoribosyl transferase (HPRT) Lipidoses Autosomal recessive Autosomal recessive Autosomal recessive cholesterol trafficking palmitoyl protein thioesterase 1 (CLN1), tripeptidyl peptidase 1 (CLN2) lysosomal acid lipase (LIPA) Lysosomal transport diseases Autosomal recessive Autosomal recessive cystinosin sialin (SLC17A5) Autosomal recessive branched chain alpha keto acid dehydrogenase complex (E1, E2, or E3 subunits) Autosomal recessive nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5 Autosomal recessive Medium-chain Acyl-CoA dehydrogenase X-linked P-type adenosine triphosphatase (ATPase) (ATP7A) Autosomal recessive arylsulfatase A/sphingolipid activator Protein (SAP) Autosomal recessive methylmalonyl-CoA mutase (MUT0, MUT-) 5'-deoxyadenosylcobalamin (CBLA, CBLB, CBLH, CBLC, CBLD, CBLF)
Mucolipidoses Mucolipidosis I (Sialidosis) Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive alpha-N-acetyl neuraminidase (NEU1) (GNPTAB) (GNPTAB) mucolipidin 1 (MCOLN1) Mucopolysaccharidoses Type I H (Hurler syndrome) Type I H/S (Hurler-Scheie syndrome) Type I S (Scheie syndrome) Type II A (Hunter syndrome, severe) Type II B (Hunter syndrome, mild) ) Autosomal recessive Autosomal recessive Autosomal recessive X-linked recessive X-linked recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive alpha-L-iduronidase (IDUA) (IDUA) (IDUA) iduronate sulfatase (IDS) iduronate sulfatase (IDS) heparan galactose (GALNS) arylsulfatase B beta-glucuronidase (GUSB) Autosomal recessive electron transfer flavoprotein (ETFA,ETFB) electron transfer flavoprotein dehydrogenase (ETFDH) Autosomal recessive myoadenylate deaminase or adenosine monophosphate (AMP) deaminase (AMPD1) Neuroacanthocytosis Autosomal recessive Autosomal recessive Autosomal recessive X-linked Autosomal dominant Autosomal recessive microsomal triglyceride transfer protein apolipoprotein B (APOB) chorein (VPS13A) Kell blood group protein junctophilin-3 (JPH3) pantothenatekinase 2 (PANK2) Oligosaccharidoses Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive (NAGA) (MAN2B1) (MANBA) (FUCA1) alpha-N-acetyl neuraminidase (NEU1) (AGA)
X-linked Ornithine transcarbamylase Peroxisome Disorders Autosomal recessive Autosomal recessive X-linked Autosomal recessive Autosomal recessive peroxins () (PEX7, GNPAT, and AGPS) ABC transporter or adrenoleukodystrophy protein (ABCD1) acyl-CoA oxidase (ACOX1) dehydrogenase IV (HSD17B4) Autosomal recessive plasma membrane carnitine transporter, OCTN2 (SLC22A5) Autosomal recessive pyruvate carboxylase X-linked recessive pyruvate dehydrogenase complex (PDHA1) Autosomal recessive phytanoyl-CoA hydroxylase SJS Type I SJS Type II Autosomal recessive perlecan, a heparin sulfate proteoglycan (HSPG2) leukemia inhibitory factor receptor (LIFR) Autosomal recessive short-chain acyl-CoA dehydrogenase (ACADS) Autosomal recessive 3-hydroxyacyl-CoA dehydrogenase (HADH) Sphingolipidoses (, , ) Autosomal recessive Autosomal recessive Autosomal recessive X-linked Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive sphingomyelinase (SMPD1) (GBA) galactosylceramide beta-galactosidase A alpha subunits of A, beta subunits of hexosaminidase activator arylsulfatase A/sphingolipid activator Protein (SAP) ceramidase cathepsin A (CTSA) Autosomal recessive succinic semialdehyde dehydrogenase (ALDH5A1) Autosomal recessive cystatin B (CST6) Autosomal dominant protoporphyrinogen oxidase Autosomal recessive very long-chain acyl-CoA dehydrogenase (ACADVL) Autosomal recessive copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B)
Autosomal recessive Autosomal recessive Autosomal recessive Autosomal recessive WNK1 kinase complex-associated protein tyrosine kinase receptor A/nerve growth factor receptor nerve growth factor beta Neurofibromatosis Autosomal dominant neurofibromin (NF1) merlin (NF2) Spinal muscular atrophies Type I (Werdnig-Hoffman disease) Type II Type III (Kugelberg-Welander disease) Type IV X-linked SMA Autosomal recessive X-linked survival motor neuron ubiquitin-activating enzyme E1