矿物质吸收-运输障碍
Disorder of mineral absorption and transport
ORPHA:309836疾病组
相关基因 19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 |
|---|---|---|
| AP1B1 | adaptor related protein complex 1 subunit beta 1 | ORPHA:171851 |
| AP1S1 | adaptor related protein complex 1 subunit sigma 1 | ORPHA:171851 |
| ATP7A | ATPase copper transporting alpha | ORPHA:198 |
| ATP7B | ATPase copper transporting beta | ORPHA:905 |
| CP | ceruloplasmin | ORPHA:48818 |
| EGF | epidermal growth factor | ORPHA:620368 |
| FTH1 | ferritin heavy chain 1 | ORPHA:247790 |
| FTL | ferritin light chain | ORPHA:157846 |
| HAMP | hepcidin antimicrobial peptide | ORPHA:79230 |
| HFE | homeostatic iron regulator | ORPHA:648581 |
| HJV | hemojuvelin BMP co-receptor | ORPHA:79230 |
| SCO2 | synthesis of cytochrome C oxidase 2 | ORPHA:521411 |
| SLC11A2 | solute carrier family 11 member 2 | ORPHA:83642 |
| SLC30A10 | solute carrier family 30 member 10 | ORPHA:309854 |
| SLC39A14 | solute carrier family 39 member 14 | ORPHA:521406 |
| SLC39A4 | solute carrier family 39 member 4 | ORPHA:37 |
| SLC40A1 | solute carrier family 40 member 1 | ORPHA:647834 |
| TF | transferrin | ORPHA:1195 |
| TFR2 | transferrin receptor 2 | ORPHA:225123 |
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）