短暂性家族性新生儿高胆红素血症
Transient familial neonatal hyperbilirubinemia
ORPHA:2312疾病
定义 英文原文（暂无中文）
A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.
别名
Lucey-Driscoll综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- Not yet documented
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| UGT1A1 | UDP glucuronosyltransferase family 1 member A1 | Candidate gene tested in |
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）