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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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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| 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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