胆汁淤积-淋巴水肿综合征
Cholestasis-lymphedema syndrome
ORPHA:1414疾病
定义 英文原文（暂无中文）
Cholestasis-lymphedema syndrome is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life.
别名
Aagenaes综合征
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
临床表型 20
极常见 99–80%12
- 腹痛 HP:0002027
- 淋巴系统异常 HP:0100763
- 尿稳态平衡异常 HP:0003110
- 无胆色大便 HP:0011985
- 胆道异常 HP:0001080
- 疲乏 HP:0012378
- 肝脏肿大 HP:0002240
- 高脂血症 HP:0003077
- 黄疸 HP:0000952
- 淋巴水肿 HP:0001004
- 恶心和呕吐 HP:0002017
- 新生儿胆汁淤积性肝病 HP:0006566
常见 79–30%3
- 皮肤着色异常 HP:0001000
- 多发性脂肪瘤 HP:0001012
- 脾肿大 HP:0001744
偶见 29–5%5
- 骨痛 HP:0002653
- 肝硬化 HP:0001394
- 胃肠道出血 HP:0002239
- 门脉高压 HP:0001409
- 骨密度降低 HP:0004349
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）