甾类脱氢酶缺乏-牙齿畸形综合征
Steroid dehydrogenase deficiency-dental anomalies syndrome
ORPHA:3196疾病
定义 英文原文（暂无中文）
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.
别名
Lyngstadaas综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 4
极常见 99–80%4
- 牙釉质形态异常 HP:0000682
- 牙釉质发育不全 HP:0006297
- 肝功能衰竭 HP:0001399
- 多生牙 HP:0011069
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）