圆锥动脉干心脏畸形
Conotruncal heart malformations
定义 英文原文（暂无中文）
A group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome . A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon).
相关基因 7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 |
|---|---|---|
| FLT4 | fms related receptor tyrosine kinase 4 | ORPHA:3303 |
| GATA4 | GATA binding protein 4 | ORPHA:3303 |
| GATA5 | GATA binding protein 5 | ORPHA:3303 |
| GATA6 | GATA binding protein 6 | ORPHA:665044 |
| JAG1 | jagged canonical Notch ligand 1 | ORPHA:3303 |
| PLXND1 | plexin D1 | ORPHA:3384 |
| TBX1 | T-box transcription factor 1 | ORPHA:665044 |
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）