共济失调-性腺功能减退-脉络膜营养不良综合征
Ataxia-hypogonadism-choroidal dystrophy syndrome
ORPHA:1180疾病
定义 英文原文（暂无中文）
A very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome.
别名
Boucher-Neuhäuser综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PNPLA6 | patatin like domain 6, lysophospholipase | Disease-causing germline mutation(s) in |
临床表型 3
极常见 99–80%3
- 共济失调 HP:0001251
- 脉络膜视网膜营养不良 HP:0001135
- 低促性腺激素性性腺功能减退症 HP:0000044
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）