Diseases catalogue

AA Disordersofaminoacidmetabolism 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 Disordersofaminoacidmetabolism 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 Ureacycledeficiency 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 CongenitalLacticAcidosis 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 Disorderoforganicacidmetabolism 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 Defectsofglycosylation: 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 Disordersofcarbohydratemetabolism 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 Disordersofcholesterolandbileacids 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 Syndromesofcerebralcreatinedeficiency 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 Disordersoffattyacidβoxidation 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 Disordersofketonebodiesmetabolism 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 Disordersofneurotransmittermetabolism 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 Disorderswithfolatedeficiency OMIM Disorders related to genetic or acquired folate deficiency

FO Cerebral folate deficiency (CFD)

FO Hereditary folate malabsorption (HFM)

FO Secondary folate deficiencies (Rett, Aicardi Goutiers, Kearns-Sayre syndromes)

PP Disordersofpurineandpyrimidinemetabolism OMIM Group of disorders caused by defects in the synthesis, salvage and catabolism of purines and pyrimidines.

PP Defects of purine metabolism:

PP Hypoxanthine-guanine phosphoribosyltransferase (HPRT) or Lesch-Nyhan syndrome 308000

PP Adenosine deaminase deficiency 102700

PP Purine nucleoside phosphorylase deficiency 164050

PP Xanthine oxidase deficiency 278300

PP Adenine phosphoribosyltransferase deficiency 102600

PP Phosphoribosylpyrophosphate synthetase superactivity 311850

PP Adenylosuccinate lyase deficiency 103050

PP Hiperuricemia and/or Hipouricemia

PP Defects of pyrimidine metabolism:

PP Uridine monophosphate synthase deficiency (hereditary orotic aciduria) 258900

PP Dihydropyrimidine dehydrogenase deficiency 274270

PP Dihydropyrimidinase deficiency 222748

PP Thymidine phosphorylase deficiency (MNGIE) 603041

PP Beta-ureidopropionase deficiency 606673

PX Peroxisomaldisorders OMIM Group of disorders caused by peroxisomal biogenesis defects or by isolated defects in peroxisomal enzymes.

PX Defects in peroxisome biogenesis:

PX Zellweger syndrome 214100

PX Neonatal adrenoleukodystrophy 202370

PX Infantile Refsum disease 266510

PX Defects in peroxisomal β-oxidation:

PX X-linked adrenoleukodystrophy 300100

PX Alpha-methylacyl-CoA racemase deficiency 604489

PX D-bifunctional protein deficiency 261515

PX Acyl-CoA oxidase deficiency 264470

PX Rhizomelic chondrodysplasia punctata:

PX Type I (Pex7P) 215100

PX Type II (DHAP acyl-CoA transferase) 222765

PX Type III (alkyl-DHAP synthase) 600121

PX Adult Refsum disease 266500

PX Hyperoxaluria type I 259900

TM Disordersofmembranetransport OMIM Genetic defects in the specific transport systems involved in the absorption of amino acids and other metabolites in intestine, kidney and brain.

TM Iminoglycinuria 242600

TM Hartnup Disorder 234500

TM Cystinosis 219800

TM Lysinuric protein intolerance 222700

TM Cystinuria type I 220100

TM Cystinuria type no-I 604144

TM Fanconi syndrome 134600

TM Biotin-responsive basal ganglia disease 606152