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Entry | Name | Description | Category | Pathway | Gene |
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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] |
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H01342 | Zellweger syndrome | Zellweger syndrome (ZS) is the most severe form seen in the peroxisome biogenesis disorder, characterized by neurological dysfunction, craniofacial abnormalities, eye abnormalities, hepatomegaly, and chondrodysplasia ... | Inherited metabolic disorder |
(PBD1A) PEX1 [HSA:5189] [KO:K13338] (PBD2A) PEX5 [HSA:5830] [KO:K13342] (PBD3A) PEX12 [HSA:5193] [KO:K13345] (PBD4A) PEX6 [HSA:5190] [KO:K13339] (PBD5A) PEX2 [HSA:5828] [KO:K06664] (PBD6A) PEX10 [HSA:5192] [KO:K13346] (PBD7A) PEX26 [HSA:55670] [KO:K13340] (PBD8A) PEX16 [HSA:9409] [KO:K13335] (PBD10A) PEX3 [HSA:8504] [KO:K13336] (PBD11A) PEX13 [HSA:5194] [KO:K13344] (PBD12A) PEX19 [HSA:5824] [KO:K13337] (PBD13A) PEX14 [HSA:5195] [KO:K13343] |
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