ORPHA:665058
Common arterial trunk with pulmonary dominance and interrupted aortic arch
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common arterial trunk with pulmonary dominance and interrupted aortic arch | |
| fr | Tronc artériel commun à dominance pulmonaire et crosse aortique interrompue | |
| de | Truncus arteriosus communis mit pulmonaler Dominanz und unterbrochenem Aortenbogen | |
| es | Tronco arterioso común con predominio pulmonar y arco aórtico interrumpido | |
| it | Tronco arterioso comune a prevalenza polmonare con interruzione dellarco aortico | |
| nl | Truncus arteriosus communis met dominantie van arteria pulmonalis en interruptie van aortaboog | |
| pt | Tronco arterial comum com dominância pulmonar e interrupção do arco aórtico | |
| pl | Pień tętniczy wspólny z przewagą tętnicy płucnej i przerwanym łukiem aorty | |
| cs | Společný arteriální kmen s dominancí plicnice a přerušeným aortálním obloukem | |
| uk | Загальний артеріальний стовбур з домінуванням легеневої артерії з переривом дуги аорти |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0971108 | E | validated | |
| UMLS | C4546068 | 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:3384Common arterial trunk
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:4174 | ENSG00000141448 | 601656 | 18q11.2 | GATA binding protein 6 | 19666519[PMID]_38351237[PMID] |
| TBX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 14585638[PMID]_29509905[PMID] |
| NKX2-6 | Major susceptibility factor in | Assessed | HGNC:32940 | ENSG00000180053 | 611770 | 8p21.2 | NK2 homeobox 6 | 15649947[PMID]_25195019[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/665058
- This record as JSON: /data/d/665058.json