遗传性弥漫性胃癌
Hereditary diffuse gastric cancer
ORPHA:26106疾病
定义 英文原文（暂无中文）
Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.
别名
遗传性弥漫性胃腺癌
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 成年期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDH1 | cadherin 1 | Disease-causing germline mutation(s) in |
| MAP3K6 | mitogen-activated protein kinase kinase kinase 6 | Disease-causing germline mutation(s) (loss of function) in |
| CTNNA1 | catenin alpha 1 | Candidate gene tested 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）