遗传性慢性胰腺炎
Autosomal dominant hereditary chronic pancreatitis
ORPHA:676疾病
定义 英文原文（暂无中文）
A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、儿童期
- 患病率
- 1-9 / 1 000 000（France）
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRSS1 | serine protease 1 | Disease-causing germline mutation(s) (gain of function) in |
| CASR | calcium sensing receptor | Candidate gene tested in |
| PRSS2 | serine protease 2 | Candidate gene tested in |
| CTRC | chymotrypsin C | Candidate gene tested in |
| CPA1 | carboxypeptidase A1 | Major susceptibility factor in |
| TRPV6 | transient receptor potential cation channel subfamily V member 6 | Major susceptibility factor in |
临床表型 9
极常见 99–80%4
- 腹痛 HP:0002027
- C-反应蛋白水平升高 HP:0011227
- 白细胞增多症 HP:0001974
- 复发性胰腺炎 HP:0100027
常见 79–30%1
- 循环酶浓度或活性异常 HP:0012379
偶见 29–5%4
- 糖尿病 HP:0000819
- 黄疸 HP:0000952
- 胰腺钙化 HP:0005213
- 内脏静脉血栓形成 HP:0030247
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）