先天性多发性关节挛缩
Arthrogryposis multiplex congenita
ORPHA:1037疾病组
定义 英文原文（暂无中文）
A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
别名
先天性多发性关节挛缩
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用、X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000（Europe）
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 |
|---|---|---|
| ASCC1 | activating signal cointegrator 1 complex subunit 1 | ORPHA:486811 |
| COL25A1 | collagen type XXV alpha 1 chain | ORPHA:1143 |
| ERGIC1 | endoplasmic reticulum-golgi intermediate compartment 1 | ORPHA:1143 |
| FKBP10 | FKBP prolyl isomerase 10 | ORPHA:1149 |
| GLE1 | GLE1 RNA export mediator | ORPHA:53696 |
| KIF14 | kinesin family member 14 | ORPHA:439897 |
| MYBPC1 | myosin binding protein C1 | ORPHA:498693 |
| PIEZO2 | piezo type mechanosensitive ion channel component 2 | ORPHA:2461 |
| SCARF2 | scavenger receptor class F member 2 | ORPHA:2460 |
| SCYL2 | SCY1 like pseudokinase 2 | ORPHA:1143 |
| SYNE1 | spectrin repeat containing nuclear envelope protein 1 | ORPHA:319332 |
| TRIP4 | thyroid hormone receptor interactor 4 | ORPHA:486811 |
| UBA1 | ubiquitin like modifier activating enzyme 1 | ORPHA:1145 |
| VIPAS39 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | ORPHA:2697 |
| VPS33B | VPS33B late endosome and lysosome associated | ORPHA:2697 |
| ZC4H2 | zinc finger C4H2-type containing | ORPHA:3454 |
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）