胰复合脂酶缺乏
Pancreatic colipase deficiency
ORPHA:309108疾病
定义 英文原文（暂无中文）
A rare disorder of lipid metabolism characterized by childhood onset of steatorrhea due to isolated pancreatic colipase deficiency, while other exocrine pancreatic enzymes are normal. Early formation of gallstones, as well as vitamin B12 deficiency with megaloblastic anemia have also been reported. There have been no further descriptions in the literature since 1982.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
临床表型 7
极常见 99–80%5
- 慢性腹泻 HP:0002028
- 胰腺外分泌功能不全 HP:0001738
- 脂肪吸收障碍 HP:0002630
- 巨幼细胞性贫血 HP:0001889
- 脂肪泻 HP:0002570
偶见 29–5%1
- 胆石症 HP:0001081
排除 0%1
- 生长延迟 HP:0001510
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）