Tetralogy of Fallot
ORPHA:3303Malformation syndromeAutosomal dominant, Multigenic/multifactorialAntenatal, Neonatal
Ассоциированные гены13
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KDR | kinase insert domain receptor | Major susceptibility factor in | gene with protein product | 191306 |
| ZFPM2 | zinc finger protein, FOG family member 2 | Major susceptibility factor in | gene with protein product | 603693 |
| GATA4 | GATA binding protein 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600576 |
| JAG1 | jagged canonical Notch ligand 1 | Disease-causing germline mutation(s) in | gene with protein product | 601920 |
| NKX2-5 | NK2 homeobox 5 | Candidate gene tested in | gene with protein product | 600584 |
| GATA5 | GATA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611496 |
| GJA5 | gap junction protein alpha 5 | Major susceptibility factor in | gene with protein product | 121013 |
| NKX2-6 | NK2 homeobox 6 | Major susceptibility factor in | gene with protein product | 611770 |
| GDF1 | growth differentiation factor 1 | Major susceptibility factor in | gene with protein product | 602880 |
| CITED2 | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 | Major susceptibility factor in | gene with protein product | 602937 |
| GATA6 | GATA binding protein 6 | Major susceptibility factor in | gene with protein product | 601656 |
| FLT4 | fms related receptor tyrosine kinase 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136352 |
| TBX1 | T-box transcription factor 1 | Candidate gene tested in | gene with protein product | 602054 |
Фенотипы (HPO)12
Очень частый (80–99%)5
HP:0000337Broad forehead
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0004209Clinodactyly of the 5th finger
HP:0005105Abnormal nasal morphology
Частый (30–79%)7
HP:0000028Cryptorchidism
HP:0000233Thin vermilion border
HP:0000268Dolichocephaly
HP:0000520Proptosis
HP:0001636Tetralogy of Fallot
HP:0004467Preauricular pit
HP:0009891Underdeveloped supraorbital ridges
Эпидемиология25
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 34 | Worldwide | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 29.3 | Europe | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 39.3 | Austria | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 40.8 | Belgium | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 39.7 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.8 | France | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.9 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 34.3 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.5 | Ireland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 26.8 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 48.2 | Malta | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 29.2 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 31.1 | Norway | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 16.2 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 23.7 | Portugal | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 63 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.9 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25.1 | Switzerland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 32 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25.4 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 47 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 40 | China | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)