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Diseases Catalogue

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Diseases Catalogue Diseases catalogue AA Disorders of amino acid metabolism OMIM Group of disorders affecting genes that codify proteins involved in the catabolism of amino acids or in the functional maintenance of the different coenzymes. AA Alkaptonuria: homogentisate dioxygenase deficiency 203500 AA Phenylketonuria: phenylalanine hydroxylase (PAH) 261600 AA Defects of tetrahydrobiopterine (BH 4) metabolism: AA 6-Piruvoyl-tetrahydropterin synthase deficiency (PTS) 261640 AA Dihydropteridine reductase deficiency (DHPR) 261630 AA Pterin-carbinolamine dehydratase 126090 AA GTP cyclohydrolase I deficiency (GCH1) (autosomal recessive) 233910 AA GTP cyclohydrolase I deficiency (GCH1) (autosomal dominant): Segawa syndrome 600225 AA Sepiapterin reductase deficiency (SPR) 182125 AA Defects of sulfur amino acid metabolism: AA N(5,10)-methylene-tetrahydrofolate reductase deficiency (MTHFR) 236250 AA Homocystinuria due to cystathionine beta-synthase deficiency (CBS) 236200 AA Methionine adenosyltransferase deficiency 250850 AA Methionine synthase deficiency (MTR, cblG) 250940 AA Methionine synthase reductase deficiency; (MTRR, CblE) 236270 AA Sulfite oxidase deficiency 272300 AA Molybdenum cofactor deficiency: combined deficiency of sulfite oxidase and xanthine oxidase 252150 AA S-adenosylhomocysteine hydrolase deficiency 180960 AA Cystathioninuria 219500 AA Hyperhomocysteinemia 603174 AA Defects of gamma-glutathione cycle: glutathione synthetase deficiency (5-oxo-prolinuria) 266130 AA Defects of histidine metabolism: Histidinemia 235800 AA Defects of lysine and hydroxylysine metabolism: AA Saccharopinuria (lysinuria type II) 268700 AA Lysinuria type I 238700 AA Defects of ornithine metabolism: ornithine aminotransferase deficiency, Gyrate athrophy 258870 AA Defects of proline and hydroxyproline metabolism: AA Hyperprolinemia type I 239500 AA Hyperprolinemia type II 239510 AA Prolidase deficiency 170100 AA Defects of serine metabolism: AA 3-Phosphoglycerate dehydrogenase deficiency 601815 AA Phosphoserine aminotransferase deficiency 610992 AA Phosphoserine phosphatase deficiency 172480 AA Defects of tryptophan metabolism: hydroxykynureninuria 236800 AA Maple Syrup Urine Disease (MSUD) 248600 AA BCKDHA gene 608348 AA BCKDHB gene 248611 AA BCKDK gene 248600 AA Disorders of amino acid metabolism OMIM AA DBT gene 348610 AA Non Ketotic Hyperglycinemia (HGNK): 605899 AA AMT gene (protein T) 238310 AA DLD gene (protein L) 238331 AA GCSH gene (protein H) 238330 AA GLDC gene (protein P) 238300 AA Sarcosinemia 268900 AA Tyrosinemia type I: fumaryl acetoacetase deficiency 276700 AA Tyrosinemia type II: hepatic tyrosine aminotransferase deficiency 276600 AA Tyrosinemia type III: hydroxyphenylpyruvate dioxygenase deficiency 276710 AA Hawkinsinuria 140350 AA Hypophosphatasia 241500 AA Carnosinemia 212200 CU Urea cycle deficiency OMIM Defects of the urea cycle enzymes involved in the removal of the ammonia excess derived from amino acid metabolism. CU N-acetylglutamate synthetase deficiency (NAGS) 237310 CU Carbamyl phosphate synthetase deficiency (CPS) 237300 CU Ornithine transcarbamylase deficiency (OTC) 311250 CU Citrullinaemia: argininsuccinic acid synthetase deficiency (ASS) 215700 CU Argininsuccinic aciduria: argininsuccinic acid lyase deficiency (ASL) 207900 CU Argininemia: arginase deficiency 207800 CU Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) 238970 CU Citrullinemia type II: citrin deficiency 605814 CU Delta1-pyrroline-5-carboxylic syntethase deficiency 138250 ALC Congenital Lactic Acidosis OMIM This group includes mitochondrial disorders caused by defects of pyruvate metabolism or enzyme complexes related to energy production by oxidative phosphorylation. ALC Pyruvate carboxylase deficiency (PC) 266150 ALC Dihydrolipoyl dehydrogenase deficiency(E3) 238331 ALC Fumarase deficiency 606812 ALC Alfa-Ketoglutarate dehydrogenase deficiency 203740 ALC Mitochondrial DNA depletion: ALC Thymidine kinase deficiency 188250 ALC Succinate-CoA ligase deficiency, α subunit (SUCLG1) 611224 ALC Succinate-CoA ligase deficiency, β subunit, (ADP) (SUCLA2) 603921 AO Disorder of organic acid metabolism OMIM Organic acidurias are a group of inborn errors characterized by the increase of organic acid in physiological fluids. AO Methylmalonic acidemia: AO B12 deficiency AO Methylmalonyl-CoA mutase deficiency (MCM) 251000 AO CblA (MMAA) 251100 AO Cob(I)alamin adenosyl transferase deficiency (CblB) (MMAB) 251110 AO Methylmalonyl-CoA epimerase deficiency (MCEE) 608419 AO Methylmalonic acidemia and homocystinuria: AO CblC (MMACHC) 277400 AO CblD (MMADHC) 277410 AO CblF 277380 AO Propionic acidemia: propionyl-CoA carboxylase deficiency (PCC) 606054 AO PCCA gene 232000 AO PCCB gene 232050 AO Isovaleric acidemia: isovaleryl-CoA dehydrogenase deficiency 243500 AO Beta-methylcrotonyl glycinuria: 3-methylcrotonyl-CoA carboxylase deficiency (MCC): AO MCC1 gene 210200 AO MCC2 gene 210210 AO Methylglutaconic Aciduria: 606580 AO Type I: 3-methylglutaconyl-CoA hydratase deficiency 250950 AO Type II: Barth Syndrome 302060 AO Type III: Costeff Syndrome 258501 AO Type IV 250951 AO Type V (DNAJC19) 610198 AO 3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutarylCoA lyase (HL) 246450 AO Multiple carboxylase deficiency: AO Holocarboxylase synthetase (HCS) 253270 AO Biotinidase deficiency 253260 AO Mevalonic aciduria: AO Mevalonate kinase deficiency 251170 AO Mevalonate kinase deficiency and hyper IgD 260920 AO 2-Methyl-3-OH-butyric aciduria: 2-methyl-3-OH-butyryl-CoA dehydrogenase deficiency 300438 AO Isobutyrylglycinuria: isobutyryl-CoA dehydrogenase deficiency 604773 AO N-acetylaspartic aciduria: Canavan disease 271900 AO Glutaric acidemia type I 231670 AO D-2-hydroxy glutaric aciduria 600721 AO L-2-hydroxy glutaric aciduria 236792 AO Malonic aciduria: malonyl-CoA decarboxylase deficiency 248360 AO 4-Hydroxy butyric aciduria: succinic semialdehyde dehydrogenase deficiency 271980 AO 3-Hydroxy isobutyric aciduria 236795 AO Hyperoxaluria type II 260000 CDG Defects of glycosylation: OMIM Group of disorders caused by defects in the enzymes involved in protein glycosylation. CDG CDG type I 603585 CDG CDG type Ia (PMM2 gene) 212065 CDG CDG type Ib (MPI gene) 602579 CDG CDG type Ic (ALG6 gene) 603147 CDG CDG type Ie (DPM1 gene) 608797 CDG CDG type Ij (DPAGT1 gene) 608093 CDG CDG type Im (TMEM15 gene) 610768 CDG CDG type II 212067 CDG CDG type Iia (MGAT2 gene) 212066 CDG Combined defects of N- and O-glycosylation (COG genes) CH Disorders of carbohydrate metabolism OMIM This group includes some defects of carbohydrate metabolism CH Fructose-1,6-bisphosphatase deficiency 229700 CH Glycerol kinase deficiency 300474 CH D-gliceric acidemia: glycerate kinase deficiency 610516 COL Disorders of cholesterol and bile acids OMIM Defects in the synthesis and absorption of cholesterol and in the bile acid synthesis. COL Defects of cholesterol biosynthesis: COL Desmosterolosis 602398 COL Smith-Lemli-Opitz syndrome 270400 COL CHILD syndrome 308050 COL Conradi-Hünermann syndrome 302960 COL Lathosterolosis 607330 COL Cholesterol absorption defect: sitosterolemia 210250 COL Bile acid synthesis defects: COL Cerebrotendinous xanthomatosis 213700 COL 3 Beta-hydroxy-delta 5-C27 steroid dehydrogenase (3Beta-HSD) 607765 COL 3-Oxosteroid 5β-reductase deficiency 235555 CR Syndromes of cerebral creatine deficiency OMIM Defects of creatine biosynthesis and transport. CR Guanidinoacetate methyltransferase deficiency (GAMT) 601240 CR Arginine: glycine amidinotransferase deficiency (AGAT) 602360 CR Creatine transporter deficiency (SLC6A8) 300352 FAO Disorders of fatty acid β-oxidation OMIM Defects in the mitochondrial fatty acid β-oxidation, one of the main energy sources. FAO Deficiency of acyl-CoA dehydrogenase: FAO Short-chain fatty acids: SCAD 201470 FAO Medium-chain fatty acids: MCAD 201450 FAO Very long-chain fatty acids: VLCAD 201475 FAO Glutaric aciduria type II: multiple acyl-CoA dehydrogenase deficiency (MADD) 231680 FAO Gene ETFA 608053 FAO Gene ETFB 130410 FAO Gene ETFDH 231675 FAO MADD riboflavine responsive FAO Encephalopathy, Ethylmalonic aciduria: gene ETHE1 602473 FAO Mitochondrial trifunctional protein 609015 FAO Long-chain 3-OH-acyl-CoA dehydrogenase deficiency (LCHAD) 201460 FAO Short-chain 3-OH-acyl-CoA dehydrogenase deficiency (SCHAD) 601609 FAO Carnitine transporter deficiency 212140 FAO Carnitine palmitoyltransferase type I deficiency (CPTI) 255120 FAO Carnitine palmitoyltransferase type II deficiency (CPTII) 255110 FAO Carnitine acylcarnitine translocase deficiency 212138 KB Disorders of ketone bodies metabolism OMIM Defects involved in ketogenesis. KB 3-Hydroxy-3-methylglutaryl-CoA synthase 600234 KB Beta-ketothiolase deficiency 203750 KB Succinyl-CoA: 3-oxoacid-CoA transferase deficiency 245050 NEU Disorders of neurotransmitter metabolism OMIM Genetic defects in the biogenic amines, amino acids, neuropeptides metabolism. NEU Tryptophan hydroxylase deficiency 607478 NEU Tyrosine hydroxylase (TH) deficiency 191290 NEU Aromatic L-amino acid decarboxylase deficiency (AADC) 107930 NEU Dopamine β-hydroxylase deficiency (D βH) 223360 NEU Monoamine oxidase (MAO) 309850 Pyridoxine-dependent convulsions: deficiency of α-amino adipic semialdehyde dehydrogenase NEU 266100 (antiquitin) NEU Pyridoxal-P dependent convulsions: pyridoxamine 5’-phosphate oxidase deficiency (PNPO) 603287 NEU γ-Aminobutyrate transaminase deficiency (GABAT) 137150 NEU Glutamine synthase deficiency (GS) FO Disorders with folate deficiency OMIM Disorders related to genetic or acquired folate deficiency FO Cerebral folate deficiency
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