法洛四联症
Tetralogy of Fallot
ORPHA:3303疾病
定义 英文原文（暂无中文）
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.
基本事实
- 遗传方式
- 常染色体显性、多基因/多因素
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-5 / 10 000
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TBX1 | T-box transcription factor 1 | Candidate gene tested in |
| ZFPM2 | zinc finger protein, FOG family member 2 | Major susceptibility factor in |
| FLT4 | fms related receptor tyrosine kinase 4 | Disease-causing germline mutation(s) (loss of function) in |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) (loss of function) in |
| JAG1 | jagged canonical Notch ligand 1 | Disease-causing germline mutation(s) in |
| NKX2-5 | NK2 homeobox 5 | Candidate gene tested in |
| GJA5 | gap junction protein alpha 5 | Major susceptibility factor in |
| NKX2-6 | NK2 homeobox 6 | Major susceptibility factor in |
| GDF1 | growth differentiation factor 1 | Major susceptibility factor in |
| KDR | kinase insert domain receptor | Major susceptibility factor in |
| CITED2 | Cbp/p300 interacting transactivator with ED-rich tail 2 | Major susceptibility factor in |
| GATA6 | GATA binding protein 6 | Major susceptibility factor in |
| GATA5 | GATA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 12
极常见 99–80%5
- 鼻形态异常 HP:0005105
- 短指（趾） HP:0001156
- 宽前额 HP:0000337
- 第五指屈指畸形 HP:0004209
- 胎儿宫内发育迟缓 HP:0001511
常见 79–30%7
- 隐睾 HP:0000028
- 长头畸形 HP:0000268
- 耳前凹陷 HP:0004467
- 眼球突出 HP:0000520
- 法洛四联症 HP:0001636
- 下红唇薄 HP:0000233
- 眶上嵴发育不全 HP:0009891
外部标识与链接
OrphanetOMIM:187500OMIM:617912OMIM:618780MONDO:0008542GARD:2245ICD-10 Q21.3ICD-11 LA88.2ClinicalTrials.gov 检索
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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）