糖基磷脂酰肌醇缺乏所致高凝综合征
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
ORPHA:83639疾病
定义 英文原文（暂无中文）
A rare congenital disorder of glycosylation characterized by cerebral and portal vein thrombosis, portal hypertension, macrocephaly, and persistent absence seizures. Additional reported features include mild to moderate global developmental delay and intellectual disability, as well as thrombocytopenia. Brain imaging may show variable stages of infarction and cerebral and cerebellar atrophy.
别名
PIGM缺乏所致先天性糖基化障碍
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PIGM | phosphatidylinositol glycan anchor biosynthesis class M | Disease-causing germline mutation(s) in |
| PIGW | phosphatidylinositol glycan anchor biosynthesis class W | Disease-causing germline mutation(s) 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
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）