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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00407 | Peroxisomal beta-oxidation enzyme deficiency | Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system ... | 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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| H02095 | Perrault syndrome | Perrault syndrome is a genetically and clinically heterogeneous autosomal-recessive condition characterized by sensorineural hearing loss and ovarian failure. Previously mutations have been described in ... | Congenital malformation |
(PRLTS1) HSD17B4 [HSA:3295] [KO:K12405] (PRLTS2) HARS2 [HSA:23438] [KO:K01892] (PRLTS3) CLPP [HSA:8192] [KO:K01358] (PRLTS4) LARS2 [HSA:23395] [KO:K01869] (PRLTS5) TWNK [HSA:56652] [KO:K17680] (PRLTS6) ERAL1 [HSA:26284] [KO:K03595] |
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| H02098 |
D-bifunctional protein deficiency DBP deficiency Bifunctional enzyme deficiency |
D-bifunctional protein (DBP) deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation. DBP is a homodimeric enzyme with 79-kDa subunits, each of which consists of three functional ... | Inherited metabolic disorder | HSD17B4 [HSA:3295] [KO:K12405] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |