卟啉与血红素代谢紊乱
Disorder of porphyrin and heme metabolism
ORPHA:309813疾病组
相关基因 20来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ABCB11 | ATP binding cassette subfamily B member 11 | ORPHA:79304 |
| ABCB4 | ATP binding cassette subfamily B member 4 | ORPHA:79305 |
| ABCC2 | ATP binding cassette subfamily C member 2 | ORPHA:234 |
| ALAD | aminolevulinate dehydratase | ORPHA:100924 |
| ALAS2 | 5'-aminolevulinate synthase 2 | ORPHA:75563 |
| ATP8B1 | ATPase phospholipid transporting 8B1 | ORPHA:79306 |
| CPOX | coproporphyrinogen oxidase | ORPHA:79273 |
| FECH | ferrochelatase | ORPHA:79278 |
| HMBS | hydroxymethylbilane synthase | ORPHA:79276 |
| HMOX1 | heme oxygenase 1 | ORPHA:562509 |
| MYO5B | myosin VB | ORPHA:79306 |
| NR1H4 | nuclear receptor subfamily 1 group H member 4 | ORPHA:480476 |
| PPOX | protoporphyrinogen oxidase | ORPHA:79473 |
| SLCO1B1 | solute carrier organic anion transporter family member 1B1 | ORPHA:3111 |
| SLCO1B3 | solute carrier organic anion transporter family member 1B3 | ORPHA:3111 |
| TJP2 | tight junction protein 2 | ORPHA:480483 |
| UROD | uroporphyrinogen decarboxylase | ORPHA:443062 |
| UTP4 | UTP4 small subunit processome component | ORPHA:168583 |
| VIPAS39 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | ORPHA:2697 |
| VPS33B | VPS33B late endosome and lysosome associated | ORPHA:2697 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）