Disorder | Responsible Gene |
---|
3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency | HMGCL |
3-Methylcrotonyl-CoA Carboxylase Deficiency 1 | MCCC1 |
3-Methylcrotonyl-CoA Carboxylase Deficiency 2 | MCCC2 |
Abetalipoproteinemia | MTTP |
Acyl-CoA Oxidase I Deficiency | ACOX1 |
Aicardi-Goutières Syndrome | SAMHD1 |
Alport Syndrome, X-Linked | COL4A5 |
Alstrom Syndrome | ALMS1 |
Andermann Syndrome | SLC12A6 |
Aromatase Deficiency | CYP19A1 |
Arthrogryposis Mental Retardation Seizures | SLC35A3 |
Asparagine Synthetase Deficiency | ASNS |
Aspartylglycosaminuria | AGA |
Autosomal Recessive Polycystic Kidney Disease | PKHD1 |
Bardet-Biedl Syndrome (BBS1-related) | BBS1 |
Bardet Biedl Syndrome (BBS12-related) | BBS12 |
Beta Thalassemia | HBB |
Biotinidase Deficiency | BTD |
Canavan Disease | ASPA |
Carpenter Syndrome | RAB23 |
Disorder | Responsible Gene |
---|
Chorea-acanthocytosis | VPS13A |
Choroideremia, X-Linked | CHM |
Citrin Deficiency | SLC25A13 |
Combined Oxidative Phosphorylation Deficiency 3 | TSFM |
Congenital Disorder of Glycosylation, Type 1A (PMM2-related) | PMM2 |
Congenital Neutropenia (HAX1-related) | HAX1 |
Crigler Najjar Syndrome, Type I | UGT1A1 |
Cystic Fibrosis | CFTR |
Factor XI Deficiency | F11 |
Familial Dysautonomia | IKBKAP |
Fanconi Anemia, Type C | FANCC |
Fanconi Anemia, Type G | FANCG |
Gaucher Disease | GBA |
Glutaric Acidemia, Type 2A | ETFA |
Glycine Encephalopathy (GLDC-related) | GLDC |
Glycogen Storage Disease, Type 1A
Glycogen Storage Disease, Type 1B |
G6PC
SLC37A4 |
Glycogen Storage Disease, Type 3 | AGL |
Glycogen Storage Disease, Type 7 | PFKM |
GRACILE Syndrome | BCS1L |
Hereditary Fructose Intolerance | ALDOB |
Disorder | Responsible Gene |
---|
Homocystinuria, Type cblE | MTRR |
Hydrolethalus Syndrome | HYLS1 |
Inclusion Body Myopathy, Type 2 | GNE |
Isovaleric Acidemia | IVD |
Joubert Syndrome, Type 2 | TMEM216 |
Junctional Epidermolysis Bullosa, Herlitz Type | LAMC2 |
Lamellar Ichthyosis, Type 1 | TGM1 |
Leber Congenital Amaurosis (LCA5-related) | LCA5 |
Leigh Syndrome, French-Canadian Type | LRPPRC |
Leukoencephalopathy with Vanishing White Matter | EIF2B5 |
Leydig Cell Hypoplasia [Luteinizing Hormone Resistance] | LHCGR |
Limb Girdle Muscular Dystrophy, Type 2E | SGCB |
Lipoamide Dehydrogenase Deficiency [Maple Syrup Urine Disease, Type 3] | DLD |
Lipoprotein Lipase Deficiency | LPL |
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency | HADHA |
Lysinuric Protein Intolerance | SLC7A7 |
Maple Syrup Urine Disease, Type 1B | BCKDHB |
Methylmalonic Acidemia (MMAA-related) | MMAA |
Methylmalonic Aciduria, Type Mut(0) | MUT |
Methylmalonic Aciduria and Homocystinuria, Type cblC | MMACHC |
Disorder | Responsible Gene |
---|
Methylmalonic Aciduria and Homocystinuria, Type cblD | MMADHC |
Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked | IDS |
Mucopolysaccharidosis, Type IIIC [Sanfilippo C] | HGSNAT |
Multiple Sulfatase Deficiency | SUMF1 |
Myotubular Myopathy, X-Linked | MTM1 |
Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome] | MPV17 |
Neuronal Ceroid Lipofuscinosis (CLN8-related) | CLN8 |
Neuronal Ceroid Lipofuscinosis (MFSD8-related) | MFSD8 |
Neuronal Ceroid Lipofuscinosis (TPP1-related) | TPP1 |
Nijmegen Breakage Syndrome | NBN |
Omenn Syndrome (RAG2-related) | RAG2 |
Ornithine Aminotransferase Deficiency | OAT |
Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia
-Homocitrullinuria (HHH) Syndrome] | SLC25A15 |
Pendred Syndrome | SLC26A4 |
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related) | PEX1 |
Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related) | PEX2 |
Phenylketonurea | PAH |
Pontocerebellar Hypoplasia, Type 1A | VRK1 |
Pontocerebellar Hypoplasia, Type 2D | SEPSECS |
Pontocerebellar Hypoplasia, Type 2E | VPS53 |
Disorder | Responsible Gene |
---|
Primary Ciliary Dyskinesia (DNAH5-related) | DNAH5 |
Primary Ciliary Dyskinesia (DNAI1-related) | DNAI1 |
Primary Hyperoxaluria, Type 3 | HOGA1 |
Pycnody sostosis | CTSK |
Pyruvate Dehydrogenase Deficiency (PDHB-Related) | PDHB |
Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy] | RLBP1 |
Retinitis Pigmentosa 25 (EYS-related) | EYS |
Retinitis Pigmentosa 59 (DHDDS-related) | DHDDS |
Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID] | GNS |
Severe Combined Immunodeficiency, Type Athabaskan | DCLRE1C |
Severe Combined Immunodeficiency, X-Linked | IL2RG |
Sickle-Cell Disease | HBB |
Sjögren-Larsson Syndrome | ALDH3A2 |
Steroid-Resistant Nephrotic Syndrome | NPHS2 |
Stuve-Wiedemann Syndrome | LIFR |
Tay-Sachs Disease | HEXA |
Usher Syndrome, Type 1F | PCDH15 |
Usher Syndrome, Type 3 | CLRN1 |
Wolman Disease | LIPA |