宫内生长受限-身材矮小-成年早期糖尿病综合征
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
ORPHA:436144疾病
定义 英文原文（暂无中文）
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDKN1C | cyclin dependent kinase inhibitor 1C | Disease-causing germline mutation(s) (gain of function) in |
临床表型 3
极常见 99–80%3
- 睾丸体积过小 HP:0008734
- 胎儿宫内发育迟缓 HP:0001511
- 身材矮小 HP:0004322
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）