Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
ORPHA:686999疾病暂无中文名
定义 英文原文（暂无中文）
A rare primary lipodystrophy characterized by partial to generalized loss of fat, associated with metabolic complications and variable neurological manifestations. Most patients present with lipoatrophy of the limbs and trunk, associated with muscular hypertrophy. Metabolic complications include insulin-resistant diabetes mellitus, hypertriglyceridemia, and hepatic steatosis. Major neurological involvement is characterized by demyelinating polyneuropathy. Intellectual disability has also been reported in some patients. Females may present with hirsutism, hyperandrogenism, and polycystic ovary syndrome, while males present with gynecomastia.
别名
PLAAT3-related lipodystrophy syndrome
基本事实
- 遗传方式
- 常染色体隐性
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PLAAT3 | phospholipase A and acyltransferase 3 | Disease-causing germline mutation(s) (loss of function) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）