ORPHA:3303
Tetralogy of Fallot
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetralogy of Fallot | |
| fr | Tétralogie de Fallot | |
| de | Fallot-Tetralogie | Fallotsche Tetralogie |
| es | Tetralogía de Fallot | |
| it | Tetralogia di Fallot | |
| nl | Tetralogie van Fallot | |
| pt | Tetralogia de Fallot | |
| pl | Tetralogia Fallota | |
| cs | Fallotova tetralogie | |
| uk | Тетрада Фалло | |
| zh | 法洛四联症 | |
| tr | Fallot tetralojisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187500 | E | validated | |
| OMIM | 617912 | NTBT | validated | |
| OMIM | 618780 | NTBT | validated | |
| ICD-10 | Q21.3 | E | specific | validated |
| ICD-11 | LA88.2 | E | specific | validated |
| MONDO | 0008542 | E | validated | |
| MeSH | D013771 | E | validated | |
| UMLS | C0039685 | E | validated | |
| GARD | 2245 | E | validated | |
| MedDRA | 10016193 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2445Conotruncal heart malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
4
Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NKX2-5 | Candidate gene tested in | Assessed | HGNC:2488 | ENSG00000183072 | 600584 | 5q35.1 | NK2 homeobox 5 | 29045289[PMID] |
| TBX1 | Candidate gene tested in | Not yet assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 20937753[PMID] |
| FLT4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3767 | ENSG00000037280 | 136352 | 5q35.3 | fms related receptor tyrosine kinase 4 | 30232381[PMID] |
| GATA4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4173 | ENSG00000136574 | 600576 | 8p23.1 | GATA binding protein 4 | 24000169[PMID] |
| GATA5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15802 | ENSG00000130700 | 611496 | 20q13.33 | GATA binding protein 5 | 23289003[PMID] |
| JAG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6188 | ENSG00000101384 | 601920 | 20p12.2 | jagged canonical Notch ligand 1 | 21893051[PMID] |
| CITED2 | Major susceptibility factor in | Not yet assessed | HGNC:1987 | ENSG00000164442 | 602937 | 6q24.1 | Cbp/p300 interacting transactivator with ED-rich tail 2 | |
| GATA6 | Major susceptibility factor in | Not yet assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 20581743[PMID] |
| GDF1 | Major susceptibility factor in | Not yet assessed | HGNC:4214 | ENSG00000130283 | 602880 | 19p13.11 | growth differentiation factor 1 | |
| GJA5 | Major susceptibility factor in | Assessed | HGNC:4279 | ENSG00000265107 | 121013 | 1q21.2 | gap junction protein alpha 5 | 22713807[PMID] |
| KDR | Major susceptibility factor in | Assessed | HGNC:6307 | ENSG00000128052 | 191306 | 4q12 | kinase insert domain receptor | 34113005[PMID] |
| NKX2-6 | Major susceptibility factor in | Assessed | HGNC:32940 | ENSG00000180053 | 611770 | 8p21.2 | NK2 homeobox 6 | 25195019[PMID] |
| ZFPM2 | Major susceptibility factor in | Assessed | HGNC:16700 | ENSG00000169946 | 603693 | 8q23 | zinc finger protein, FOG family member 2 | 24702427[PMID]_14517948[PMID] |
5
Prevalence and incidence
25 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 34 / 100 000 | Worldwide | Value and class | Validated | 22078432[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 29.3 / 100 000 | Europe | Value and class | Validated | [EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 39.3 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 40.8 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.4 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 39.7 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 13.8 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.9 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 34.3 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 14.5 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 26.8 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 48.2 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 29.2 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 31.1 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.2 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 23.7 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 6-9 / 10 000 | 63 / 100 000 | Taiwan, Province of China | Value and class | Validated | 20138303[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.1 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 32 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 25.4 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 47 / 100 000 | United States | Value and class | Validated | 18657826[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 40 / 100 000 | China | Value and class | Validated | 23350618[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001511 | Intrauterine growth retardation | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0004467 | Preauricular pit | |
| HP:0000520 | Proptosis | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0000233 | Thin vermilion border | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3303
- This record as JSON: /data/d/3303.json