Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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] | |
| 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] |
|
| H00173 | Isovaleric acidemia | ... 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 of ... | 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] |
|
| 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] |
|
| H00178 | Glutaric acidemia | ... aciduria type II (GA2), also known as multiple acyl-CoA dehydrogenase deficiency (MADD), is caused by a deficiency of either electron transport flavoprotein or of electron transport flavoprotein oxoreductase. | 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] |
|
| 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] |
|
| 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] |
|
| 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] |
|
| 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] |
|
| 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 | ... 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) are caused by deficiencies ... | Inherited metabolic disorder |
(HYRPRO1) PRODH [HSA:5625] [KO:K00318] (HYRPRO2) ALDH4A1 [HSA:8659] [KO:K00294] |
|
| 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] |
|
| 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] |
|
| 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] |
|
| H00202 | Hepatic porphyria | Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic | Inherited metabolic disorder |
(PCT) UROD [HSA:7389] [KO:K01599] (AIP) HMBS [HSA:3145] [KO:K01749] (VP) PPOX [HSA:5498] [KO:K00231] (ALADP) ALAD [HSA:210] [KO:K01698] (HCP) CPOX [HSA:1371] [KO:K00228] |
|
| H00203 |
Acatalasemia Takahara disease |
... also known as acatalasia, is an autosomal recessive peroxisomal disorder caused by deficiency of erythrocyte catalase that metabolizes both hydrogen peroxide and a variety of substrates such as ethanol ... | Inherited metabolic disorder | CAT [HSA:847] [KO:K03781] | |
| H00204 | Heimler syndrome | ... imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. It has been reported that HS is caused by hypomorphic mutations in the peroxisome biogenesis genes PEX1 and PEX6. HS is considered ... | Inherited metabolic disorder, Peroxisomal disease |
(HMLR1) PEX1 [HSA:5189] [KO:K13338] (HMLR2) PEX6 [HSA:5190] [KO:K13339] |
|
| H00205 | Peroxisome biogenesis disorder | Peroxisome biogenesis disorder (PBD) is a group of lethal disorders caused by mutation of peroxisomal biogenesis factor (PEX) genes. PBDs fall into 4 main phenotypic classes; Zellweger syndrome (ZS), neonatal ... | Inherited metabolic disorder, Peroxisomal disease |
(PBD1A/1B) PEX1 [HSA:5189] [KO:K13338] (PBD2A/2B) PEX5 [HSA:5830] [KO:K13342] (PBD3A/3B) PEX12 [HSA:5193] [KO:K13345] (PBD4A/4B) PEX6 [HSA:5190] [KO:K13339] (PBD5A/5B) PEX2 [HSA:5828] [KO:K06664] (PBD6A/6B) PEX10 [HSA:5192] [KO:K13346] (PBD7A/7B) PEX26 [HSA:55670] [KO:K13340] (PBD8A/8B) PEX16 [HSA:9409] [KO:K13335] (PBD9B) PEX7 [HSA:5191] [KO:K13341] (PBD10A) PEX3 [HSA:8504] [KO:K13336] (PBD11A/11B) PEX13 [HSA:5194] [KO:K13344] (PBD12A) PEX19 [HSA:5824] [KO:K13337] (PBD13A) PEX14 [HSA:5195] [KO:K13343] (PBD14B) PEX11B [HSA:8799] [KO:K13352] |
|
| H00206 | Mevalonate kinase deficiency | Mevalonate kinase deficiency is an autosomal recessive disorder, which is identified as the cause of two inherited human autoinflammatory disorders: mevalonic aciduria (MVA) and hyperimmunoglobulinemia ... | Inherited metabolic disorder | MVK [HSA:4598] [KO:K00869] | |
| H00207 | Rhizomelic chondrodysplasia punctata | Rhizomelic chondrodysplasia punctata (RCDP) is a lethal autosomal recessive disease associated with impaired peroxisomes characterized by proximal limb shortening, severely disturbed endochondrial bone ... | Inherited metabolic disorder, Peroxisomal disease |
(RCDP1) PEX7 [HSA:5191] [KO:K13341] (RCDP2) GNPAT [HSA:8443] [KO:K00649] (RCDP3) AGPS [HSA:8540] [KO:K00803] (RCDP4) FAR1 [HSA:84188] [KO:K13356] (RCDP5) PEX5 [HSA:5830] [KO:K13342] |
|
| H00208 | Hyperbilirubinemia | ... hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial ... | Inherited metabolic disorder |
(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699] (DJS) ABCC2 [HSA:1244] [KO:K05666] (RS) SLCO1B1 [HSA:10599] [KO:K05043] (RS) SLCO1B3 [HSA:28234] [KO:K05043] |
|
| H00209 | Menkes syndrome | ... mutation of a copper-transporting P-type ATPase, resulting in dysfunction of copper-dependent enzymes. The patients with classical MD have severe developmental and neurological impairments due to subnormal ... | Inherited metabolic disorder | ATP7A [HSA:538] [KO:K17686] | |
| H00210 |
Wilson disease Hepatolenticular degeneration |
... disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver. | Inherited metabolic disorder | ATP7B [HSA:540] [KO:K17686] | |
| H00211 | Hemochromatosis | Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body. | Inherited metabolic disorder |
(HFE1) HFE [HSA:3077] [KO:K26535] (HFE2A) HJV [HSA:148738] [KO:K23100] (HFE2B) HAMP [HSA:57817] [KO:K23106] (HFE3) TFR2 [HSA:7036] [KO:K23910] (HFE4) SLC40A1 [HSA:30061] [KO:K14685] (HFE5) FTH1 [HSA:2495] [KO:K00522] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |