远端关节挛缩1型
Distal arthrogryposis type 1
ORPHA:1146疾病
定义 英文原文（暂无中文）
A form of arthrogryposis characterized by contractures of the distal regions of the hands and feet in the absence of a primary neurological and/or muscle disease affecting limb function. Facial involvement is limited to a small mouth and impaired mouth opening. No additional anomalies are reported.
别名
远端关节弯曲1型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TNNI2 | troponin I2, fast skeletal type | Disease-causing germline mutation(s) in |
| TNNT3 | troponin T3, fast skeletal type | Disease-causing germline mutation(s) in |
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in |
| MYH3 | myosin heavy chain 3 | Disease-causing germline mutation(s) in |
| MYBPC1 | myosin binding protein C1 | Disease-causing germline mutation(s) in |
| NALCN | sodium leak channel, non-selective | Disease-causing germline mutation(s) in |
临床表型 9
极常见 99–80%2
- 拇指内收 HP:0001181
- 指交叠 HP:0010557
常见 79–30%4
- 手指弯曲 HP:0100490
- 关节僵硬 HP:0001387
- 畸形足 HP:0001883
- 手指尺侧偏斜 HP:0009465
偶见 29–5%3
- 髋骨形态异常 HP:0003272
- 小口畸形 HP:0000160
- 摇椅足 HP:0001838
外部标识与链接
OrphanetOMIM:108120OMIM:126050OMIM:614335MONDO:0015240GARD:787ICD-10 Q68.8ICD-11 LD26.4YClinicalTrials.gov 检索
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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）