甲状腺激素受体α突变所致甲状腺激素的抵抗
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
ORPHA:566231疾病
定义 英文原文（暂无中文）
A rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical phenotype variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased metabolic rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.
别名
甲状腺激素α抵抗
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| THRA | thyroid hormone receptor alpha | Disease-causing germline mutation(s) 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）