妊娠肝内胆汁淤积症
Intrahepatic cholestasis of pregnancy
ORPHA:69665疾病
定义 英文原文（暂无中文）
Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
别名
妊娠复发性肝内胆汁淤积
基本事实
- 遗传方式
- 多基因/多因素、不适用
- 发病年龄
- 成年期
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ABCB11 | ATP binding cassette subfamily B member 11 | Major susceptibility factor in |
| ABCB4 | ATP binding cassette subfamily B member 4 | Major susceptibility factor in |
| ATP8B1 | ATPase phospholipid transporting 8B1 | Major susceptibility factor in |
| NR1H4 | nuclear receptor subfamily 1 group H member 4 | Candidate gene tested in |
临床表型 27
极常见 99–80%2
- 血清胆汁酸浓度增高 HP:0012202
- 瘙痒 HP:0000989
常见 79–30%3
- 消化系统异常 HP:0025031
- 循环肝转氨酶水平升高 HP:0002910
- 失眠 HP:0100785
偶见 29–5%10
- 循环白细胞介素水平异常 HP:0011117
- 松果体褪黑素分泌异常 HP:0012689
- 抑郁 HP:0000716
- 碱性磷酸酶升高 HP:0003155
- 高胆红素血症 HP:0002904
- 羊水污染、羊水混浊 HP:0012420
- 新生儿呼吸窘迫 HP:0002643
- 手掌瘙痒症 HP:0031248
- 先兆子痫 HP:0100602
- 足部瘙痒 HP:0030900
罕见 <4–1%10
- 腹痛 HP:0002027
- 胰腺异常 HP:0001732
- 腹水 HP:0001541
- 扑翼样震颤 HP:0012164
- 胆囊炎 HP:0001082
- 甲状腺功能减退症 HP:0000821
- 黄疸 HP:0000952
- 早产 HP:0001622
- 小于胎龄儿 HP:0001518
- 震颤 HP:0001337
排除 0%2
- 自身免疫 HP:0002960
- 皮疹 HP:0000988
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）