先天性甲状腺功能减退症
Congenital hypothyroidism
ORPHA:442疾病组
定义 英文原文（暂无中文）
Congenital hypothyroidism (CH) is defined as a thyroid hormone deficiency present from birth.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 18来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| DUOX2 | dual oxidase 2 | ORPHA:95716 |
| DUOXA2 | dual oxidase maturation factor 2 | ORPHA:95716 |
| FOXI1 | forkhead box I1 | ORPHA:705 |
| HESX1 | HESX homeobox 1 | ORPHA:226307 |
| IGSF1 | immunoglobulin superfamily member 1 | ORPHA:329235 |
| IYD | iodotyrosine deiodinase | ORPHA:95716 |
| KCNJ10 | potassium inwardly rectifying channel subfamily J member 10 | ORPHA:705 |
| LHX3 | LIM homeobox 3 | ORPHA:226307 |
| LHX4 | LIM homeobox 4 | ORPHA:226307 |
| POU1F1 | POU class 1 homeobox 1 | ORPHA:226307 |
| PROP1 | PROP paired-like homeobox 1 | ORPHA:226307 |
| SLC26A4 | solute carrier family 26 member 4 | ORPHA:705 |
| SLC5A5 | solute carrier family 5 member 5 | ORPHA:95716 |
| TG | thyroglobulin | ORPHA:95716 |
| TPO | thyroid peroxidase | ORPHA:95716 |
| TRHR | thyrotropin releasing hormone receptor | ORPHA:99832 |
| TSHB | thyroid stimulating hormone subunit beta | ORPHA:90674 |
| TSHR | thyroid stimulating hormone receptor | ORPHA:90673 |
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）