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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00407 | Peroxisomal beta-oxidation enzyme deficiency | ... system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types ... | Inherited metabolic disorder |
ACOX1 [HSA:51] [KO:K00232] HSD17B4 [HSA:3295] [KO:K12405] AMACR [HSA:23600] [KO:K01796] SCP2 [HSA:6342] [KO:K08764] |
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| H00628 | Congenital bile acid synthesis defect | ... in bile acid synthesis. CBAS type 1, 2 ,3 and 4 are due to mutations in HSD3B7, AKR1D1, CYP7B1, and AMACR, respectively. Inherited mutations that impair bile acid synthesis cause a spectrum of human disease ... | Inherited metabolic disorder |
(CBAS1) HSD3B7 [HSA:80270] [KO:K12408] (CBAS2) AKR1D1 [HSA:6718] [KO:K00251] (CBAS3) CYP7B1 [HSA:9420] [KO:K07430] (CBAS4) AMACR [HSA:23600] [KO:K01796] (CBAS5) ABCD3 [HSA:5825] [KO:K05677] (CBAS6) ACOX2 [HSA:8309] [KO:K10214] |
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| H02099 |
Alpha-methylacyl-CoA racemase deficiency AMACR deficiency |
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous ... | Inherited metabolic disorder | AMACR [HSA:23600] [KO:K01796] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |