复合性肌张力障碍
Combined dystonia
ORPHA:98203疾病组
别名
肌张力障碍附加综合征
相关基因 16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 |
|---|---|---|
| ARX | aristaless related homeobox | ORPHA:364063 |
| ATM | ATM serine/threonine kinase | ORPHA:370109 |
| ATP1A3 | ATPase Na+/K+ transporting subunit alpha 3 | ORPHA:71517 |
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | ORPHA:71518 |
| KCNA1 | potassium voltage-gated channel subfamily A member 1 | ORPHA:98809 |
| KCNJ10 | potassium inwardly rectifying channel subfamily J member 10 | ORPHA:98809 |
| KCTD17 | potassium channel tetramerization domain containing 17 | ORPHA:36899 |
| PNKD | PNKD metallo-beta-lactamase domain containing | ORPHA:98810 |
| PRKRA | protein activator of interferon induced protein kinase EIF2AK2 | ORPHA:210571 |
| PRRT2 | proline rich transmembrane protein 2 | ORPHA:98809 |
| SGCE | sarcoglycan epsilon | ORPHA:36899 |
| SLC18A2 | solute carrier family 18 member A2 | ORPHA:352649 |
| SLC2A1 | solute carrier family 2 member 1 | ORPHA:53583 |
| SLC6A3 | solute carrier family 6 member 3 | ORPHA:238455 |
| TAF1 | TATA-box binding protein associated factor 1 | ORPHA:53351 |
| WARS2 | tryptophanyl tRNA synthetase 2, mitochondrial | ORPHA:238455 |
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）