家族性胰腺癌
Familial pancreatic carcinoma
ORPHA:1333疾病
定义 英文原文（暂无中文）
Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.
别名
家族性胰腺癌
基本事实
- 遗传方式
- 常染色体显性、多基因/多因素
- 发病年龄
- 成年期
- 患病率
- 1-9 / 1 000 000（Europe）
相关基因 9
| 基因 | 名称 | 关联类型 |
|---|---|---|
| BRCA1 | BRCA1 DNA repair associated | Major susceptibility factor in |
| BRCA2 | BRCA2 DNA repair associated | Major susceptibility factor in |
| CDKN2A | cyclin dependent kinase inhibitor 2A | Major susceptibility factor in |
| SMAD4 | SMAD family member 4 | Major susceptibility factor in |
| TP53 | tumor protein p53 | Major susceptibility factor in |
| KRAS | KRAS proto-oncogene, GTPase | Major susceptibility factor in |
| PALB2 | partner and localizer of BRCA2 | Major susceptibility factor in |
| PALLD | palladin, cytoskeletal associated protein | Major susceptibility factor in |
| RABL3 | RAB, member of RAS oncogene family like 3 | Disease-causing germline mutation(s) in |
临床表型 24
必现 100%1
- 胰腺腺癌 HP:0006725
极常见 99–80%7
- 腹痛 HP:0002027
- 厌食症 HP:0002039
- 背部疼痛 HP:0003418
- 慢性疲劳 HP:0012432
- 胰腺外分泌功能不全 HP:0001738
- 食欲不振 HP:0004396
- 体重减轻 HP:0001824
常见 79–30%5
- 肝外胆汁淤积 HP:0012334
- 功能性肠梗阻 HP:0005249
- 假性肠梗阻 HP:0004389
- 黄疸 HP:0000952
- 淋巴结肿大 HP:0002716
偶见 29–5%11
- 乳腺癌 HP:0003002
- 结肠癌 HP:0003003
- 糖尿病 HP:0000819
- 循环肝转氨酶水平升高 HP:0002910
- 肝脾肿大 HP:0001433
- 间歇性腹泻 HP:0002254
- 黑色素瘤 HP:0002861
- 恶心和呕吐 HP:0002017
- 肝脏肿瘤 HP:0002896
- 卵巢癌 HP:0025318
- 腹膜脓肿 HP:0100592
外部标识与链接
OrphanetOMIM:260350OMIM:606856OMIM:613347MONDO:0015278GARD:4206ICD-10 C25ICD-11 2C10.ZClinicalTrials.gov 检索
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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）