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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00162 | Sjogren-Larsson syndrome | Sjogren-Larsson syndrome is an autosomal recessive neurocutaneous disorder caused by deficiency of microsomal fatty aldehyde dehydrogenase in fatty alcohol metabolism and characterized by congenital ichthyosis | Inherited metabolic disorder | ALDH3A2 [HSA:224] [KO:K00128] | |
| H00163 | Alkaptonuria | Alkaptonuria is a rare, inherited defect of homogentisic acid 1,2-dioxygenase that leads to the widespread deposition of polymeric homogentisic acid, and clinical symptoms from degeneration of joints and ... | Inherited metabolic disorder | HGD [HSA:3081] [KO:K00451] | |
| H00164 | Carbamoyl phosphate synthetase I deficiency | Carbamoylphosphate synthetase I deficiency is a urea-cycle disorder characterized by hyperammonemia. | Inherited metabolic disorder | CPS1 [HSA:1373] [KO:K01948] | |
| H00165 | Tyrosinemia | The tyrosinemias are characterized by the accumulation of tyrosine in body fluids and tissues. Type I, the most severe form of tyrosinemia, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) ... | Inherited metabolic disorder |
(TYRSN1) FAH [HSA:2184] [KO:K01555] (TYRSN2) TAT [HSA:6898] [KO:K00815] (TYRSN3) HPD [HSA:3242] [KO:K00457] |
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| H00166 | Hermansky-Pudlak syndrome | Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. | Inherited metabolic disorder |
(HPS1) HPS1 [HSA:3257] [KO:K20193] (HPS2) AP3B1 [HSA:8546] [KO:K12397] (HPS3) HPS3 [HSA:84343] [KO:K20190] (HPS4) HPS4 [HSA:89781] [KO:K20194] (HPS5) HPS5 [HSA:11234] [KO:K20191] (HPS6) HPS6 [HSA:79803] [KO:K20192] (HPS7) DTNBP1 [HSA:84062] [KO:K20189] (HPS8) BLOC1S3 [HSA:388552] [KO:K20186] (HPS9) BLOC1S6 [HSA:26258] [KO:K20188] (HPS10) AP3D1 [HSA:8943] [KO:K12396] (HPS11) BLOC1S5 [HSA:63915] [KO:K20187] |
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| H00167 |
Phenylketonuria Hyperphenylalaninemia |
Phenylketonuria (PKU) is one of the most common inborn errors of metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine ... | Inherited metabolic disorder |
(PKU) PAH [HSA:5053] [KO:K00500] (HPABH4A) PTS [HSA:5805] [KO:K01737] (HPABH4B) GCH1 [HSA:2643] [KO:K01495] (HPABH4C) QDPR [HSA:5860] [KO:K00357] (HPABH4D) PCBD1 [HSA:5092] [KO:K01724] (HPANBH4) DNAJC12 [HSA:56521] [KO:K09532] |
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| H00168 | Oculocutaneous albinism | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. | Inherited metabolic disorder |
(OCA1) TYR [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] [KO:K24200] (OCA2) MC1R [HSA:4157] [KO:K04199] (OCA3) TYRP1 [HSA:7306] [KO:K00506] (OCA4) SLC45A2 [HSA:51151] [KO:K15378] (OCA6) SLC24A5 [HSA:283652] [KO:K13753] (OCA7) LRMDA [HSA:83938] [KO:K24399] (OCA8) DCT [HSA:1638] [KO:K01827] |
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| H00169 |
Ocular albinism Ocular albinism type I (OA1) Waardenburg syndrome type II (WS2-OA) |
Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type ... | Inherited metabolic disorder |
(OA1) GPR143 [HSA:4935] [KO:K08470] (WS2A) MITF [HSA:4286] [KO:K09455] |
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| H00170 | Piebaldism | Piebaldism is caused by mutations of kit proto-oncogene implicated in the differentiation and migration of melanoblasts. The disease is characterized by the congenital absence of melanocytes in affected ... | Inherited metabolic disorder | (PBT) KIT [HSA:3815] [KO:K05091] | |
| H00171 | Histidinemia | Histidinemia is an autosomal recessive disorder resulting from histidase deficiency. | Inherited metabolic disorder | HAL [HSA:3034] [KO:K01745] | |
| H00172 | Maple syrup urine disease | Maple syrup urine disease (MSUD) is an autosomal recessive inherited disorder caused by a defect in the oxidative decarboxylation of branched-chain amino acids (BCAA) leading to mental and physical retardation ... | Inherited metabolic disorder |
(MSUD1A) BCKDHA [HSA:593] [KO:K00166] (MSUD1B) BCKDHB [HSA:594] [KO:K00167] (MSUD2) DBT [HSA:1629] [KO:K09699] (DLDD) DLD [HSA:1738] [KO:K00382] (MSUDMV) PPM1K [HSA:152926] [KO:K17505] |
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| H00173 | Isovaleric acidemia | Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by a deficiency of the mitochondrial enzyme isovaleryl-CoA dehydrogenase resulting in the accumulation of derivatives ... | Inherited metabolic disorder | IVD [HSA:3712] [KO:K00253] | |
| H00174 |
Methylmalonic aciduria Methylmalonic acidemia |
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of ... | Inherited metabolic disorder |
(mut) MMUT [HSA:4594] [KO:K01847] (cblA) MMAA [HSA:166785] [KO:K07588] (cblB) MMAB [HSA:326625] [KO:K00798] (cblC) MMACHC [HSA:25974] [KO:K14618] (cblC) PRDX1 [HSA:5052] [KO:K13279] (cblD) MMADHC [HSA:27249] [KO:K26006] (cblF) LMBRD1 [HSA:55788] [KO:K14617] (cblJ) ABCD4 [HSA:5826] [KO:K05678] (cblX) HCFC1 [HSA:3054] [KO:K14966] (TCblR) CD320 [HSA:51293] [KO:K06734] (MCE) MCEE [HSA:84693] [KO:K05606] |
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| H00175 | Propionic acidemia | Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism. | Inherited metabolic disorder |
PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] |
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| H00176 | Adrenoleukodystrophy | Adrenoleukodystrophy (ALD) is an X-linked disorder caused by mutation in the ABCD1 gene that encodes ABCD1/ALDP, a peroxisomal ABC transporter. ALD is biochemically characterized by the accumulation of ... | Inherited metabolic disorder, Peroxisomal disease | ABCD1 [HSA:215] [KO:K05675] | |
| H00177 | Neonatal adrenoleukodystrophy | The neonatal form of adrenoleukodystrophy (NALD) and Infantile Refsum disease (IRD) are milder form of Zellweger syndrome spectrum (ZSS) disorders. They are caused by defects in one of PEX genes, which ... | Inherited metabolic disorder, Peroxisomal disease |
(PBD1B) PEX1 [HSA:5189] [KO:K13338] (PBD2B) PEX5 [HSA:5830] [KO:K13342] (PBD3B) PEX12 [HSA:5193] [KO:K13345] (PBD4B) PEX6 [HSA:5190] [KO:K13339] (PBD5B) PEX2 [HSA:5828] [KO:K06664] (PBD6B) PEX10 [HSA:5192] [KO:K13346] (PBD7B) PEX26 [HSA:55670] [KO:K13340] (PBD8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10B) PEX3 [HSA:8504] [KO:K13336] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
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| H00178 | Glutaric acidemia | Glutaric aciduria type I (GA1) is an autosomal recessive disorder resulting from a deficiency of glutaryl-CoA dehydrogenase leading to an accumulation of glutaric and 3-hydroxyglutaric acids and secondary ... | Inherited metabolic disorder |
(GA1) GCDH [HSA:2639] [KO:K00252] (GA2) ETFA [HSA:2108] [KO:K03522] (GA2) ETFB [HSA:2109] [KO:K03521] (GA2) ETFDH [HSA:2110] [KO:K00311] (GA3) SUGCT [HSA:79783] [KO:K18703] |
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| H00179 | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | 3-Hydroxy-3-methylglutaryl-CoA lyase (HL) deficiency is a rare autosomal recessive genetic disorder characterized by recurrent episodes of metabolic acidosis, hyperammonemia without ketosis, hypoglycemia ... | Inherited metabolic disorder | HMGCL [HSA:3155] [KO:K01640] | |
| H00180 |
Holocarboxylase synthetase deficiency Multiple carboxylase deficiency |
Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder of biotin metabolism that results from holocarboxylase synthetase activity disruption. HLCS deficiency is also called multiple ... | Inherited metabolic disorder | HLCS [HSA:3141] [KO:K01942] | |
| H00181 |
3-Methylcrotonylglycinuria 3-Methylcrotonyl-CoA carboxylase deficiency |
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism with a variable phenotype. | Inherited metabolic disorder |
(MCC1D) MCCC1 [HSA:56922] [KO:K01968] (MCC2D) MCCC2 [HSA:64087] [KO:K01969] |
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| H00182 | Cystathioninuria | Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria ... | Inherited metabolic disorder | CTH [HSA:1491] [KO:K01758] | |
| H00183 | Homocystinuria | Homocystinuria (HC) is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems. | Inherited metabolic disorder |
CBS [HSA:875] [KO:K01697] MTHFR [HSA:4524] [KO:K25004] (HMAE) MTRR [HSA:4552] [KO:K00597] (HMAG) MTR [HSA:4548] [KO:K00548] |
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| H00184 | Hypermethioninemia | Hypermethioninemia is an inborn error of methionine metabolism. | Inherited metabolic disorder |
MAT1A [HSA:4143] [KO:K00789] AHCY [HSA:191] [KO:K01251] GNMT [HSA:27232] [KO:K00552] ADK [HSA:132] [KO:K00856] |
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| H00185 | Citrullinemia | Citrullinemia (CTLN) is an autosomal recessive disease caused by a deficiency of argininosuccinate synthetase/citrin and characterized primarily by elevated serum and urine citrulline levels. | Inherited metabolic disorder |
(CTLN1) ASS1 [HSA:445] [KO:K01940] (CTLN2) SLC25A13 [HSA:10165] [KO:K15105] |
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| H00186 | Hyperargininemia | Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme resulting in high plasma arginine and ammonia levels, that develops encephalopathy. | Inherited metabolic disorder | ARG1 [HSA:383] [KO:K01476] | |
| H00187 | Ornithine transcarbamylase deficiency | Ornithine transcarbamylase deficiency, the most common urea cycle defect, results in failure to thrive, hypotonia, seizures and mental retardation. | Inherited metabolic disorder | OTC [HSA:5009] [KO:K00611] | |
| H00188 | Hyperlysinemia | Hyperlysinemia is an autosomal recessive metabolic disorder caused by aminoadipate-semialdehyde synthase deficiency and characterized by an abnormal increase of lysine in the blood. | Inherited metabolic disorder | AASS [HSA:10157] [KO:K14157] | |
| H00189 |
Ornithinaemia Gyrate Atrophy |
Ornithinemia due to deficiency of ornithine ketoacid aminotransferase induces hyperornithinemia and gyrate atrophy. | Inherited metabolic disorder | OAT [HSA:4942] [KO:K00819] | |
| H00190 | Hyperprolinemia | Hyperprolinemia (HP) is a phenotype present in two distinct, autosomal recessive metabolic disorders caused by defects in the l-proline catabolic pathway. Hyperprolinemia type I (HPI) and type II (HPII) ... | Inherited metabolic disorder |
(HYRPRO1) PRODH [HSA:5625] [KO:K00318] (HYRPRO2) ALDH4A1 [HSA:8659] [KO:K00294] |
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| H00191 |
Nonketotic hyperglycinemia Glycine encephalopathy (GCE) |
Nonketotic hyperglycinemia is an inborn error of glycine metabolism caused by a deficiency of the glycine cleavage system, which is composed of four proteins in the mitochondria and results in severe neurologic ... | Inherited metabolic disorder |
(GCE1) GLDC [HSA:2731] [KO:K00281] (GCE2) AMT [HSA:275] [KO:K00605] |
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| H00192 | Xanthinuria | Xanthinuria is characterized by very low concentration of uric acid in blood and urine and high concentration of urinary xanthine. Xanthinuria is classified into 2 groups, types I (XAN1) and II (XAN2) ... | Inherited metabolic disorder |
(XAN1) XDH [HSA:7498] [KO:K00106] (XAN2) MOCOS [HSA:55034] [KO:K15631] |
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| H00193 | Dihydropyrimidine dehydrogenase deficiency | Dihydropyrimidine dehydrogenase enzyme deficiency is a pharmacogenetic syndrome leading to severe side-effects in patients receiving therapies containing the anticancer drug 5-fluorouracil. | Inherited metabolic disorder | DPYD [HSA:1806] [KO:K00207] | |
| H00194 |
Lesch-Nyhan syndrome Hypoxanthine-guanine phosophoribosyltransferase deficiency |
Deficiency of hypoxanthine-guanine phosphoribosyltransferase activity is an inborn error of purine metabolism characterized by hyperuricemia with hyperuricosuria and a continuum spectrum of neurological ... | Inherited metabolic disorder | HPRT1 [HSA:3251] [KO:K00760] | |
| H00195 |
Adenine phosphoribosyltransferase deficiency 2,8-Dihydroxyadenine urolithiasis |
Adenine phosphoribosyltransferase deficiency (APRTD) is an autosomal recessive disorder of purine metabolism and causes urolithiasis due to accumulation of the insoluble purine 2,8-dihydroxyadenine. | Inherited metabolic disorder | APRT [HSA:353] [KO:K00759] | |
| H00196 | Phosphoribosylpyrophosphate synthetase superactivity | Phosphoribosylpyrophosphate synthetase superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. | Inherited metabolic disorder | PRPS1 [HSA:5631] [KO:K00948] | |
| H00197 | Adenylosuccinate lyase deficiency | Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures. | Inherited metabolic disorder | ADSL [HSA:158] [KO:K01756] | |
| H00198 | Orotic aciduria | Orotic aciduria is characterized by megaloblastic anemia that is unresponsive to vitamin B12 and folic acid. | Inherited metabolic disorder | UMPS [HSA:7372] [KO:K13421] | |
| H00199 |
Dihydropyrimidinase deficiency Dihydropyrimidinuria |
Dihydropyrimidinase deficiency is characterized by dihydropyrimidinuria and is associated with seizures and mental retardation. | Inherited metabolic disorder | DPYS [HSA:1807] [KO:K01464] | |
| H00200 | Beta-ureidopropionase deficiency | Deficiency of beta-ureidopropionase which catalyzes the biosynthesis of beta-alanine and the last step in pyrimidine degradation is an autosomal recessive condition associated with neurological and developmental ... | Inherited metabolic disorder | UPB1 [HSA:51733] [KO:K01431] | |
| H00201 | Erythropoietic porphyria | Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
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