ORPHA:216718
Isolated congenitally uncorrected transposition of the great arteries
Synonyms: Isolated congenitally uncorrected transposition of the great vessels
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Congenitally uncorrected transposition of the great arteries
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated congenitally uncorrected transposition of the great arteries | Isolated congenitally uncorrected transposition of the great vessels |
| fr | Transposition isolée congénitalement non corrigée des gros vaisseaux | Transposition isolée congénitalement non corrigée des grosses artères |
| de | Isolierte kongenitale unkorrigierte Transposition der großen Arterien | Isolierte kongenitale nicht korrigierte Transposition der großen Gefäße |
| es | Transposición de las grandes arterias congénitamente no corregida aislada | Transposición de los grandes vasos congénitamente no corregida aislada |
| it | Trasposizione congenitamente corretta isolata delle grandi arterie | Trasposizione congenitamente corretta isolata dei grandi vasi |
| nl | Geïsoleerde congenitaal ongecorrigeerde transpositie van grote slagaders | Geïsoleerde congenitaal ongecorrigeerde transpositie van grote bloedvaten |
| pt | Transposição das grandes artérias, isolada, corrigida congenitamente | |
| pl | Izolowane wrodzone nieskorygowane przełożenie wielkich pni tętniczych | Izolowane wrodzone nieskorygowane przełożenie wielkich naczyń |
| cs | Izolovaná vrozeně neopravená transpozice velkých tepen | Izolovaná vrozeně neopravená transpozice velkých cév |
| uk | Ізольована вроджена некоригована транспозиція магістральних артерій | Ізольована вроджена некоригована транспозиція магістральних судин |
| zh | 孤立性先天未矫正型大动脉转位 | 孤立性先天性未矫正型大血管转位 |
| tr | Büyük arterlerin izole doğumsal düzeltilmemiş transpozisyonu | Büyük damarların izole doğumsal yanlış transpozisyonu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.3 | NTBT | attributed | validated |
| MONDO | 0016302 | E | validated | |
| UMLS | C5679810 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:860Congenitally uncorrected transposition of the great arteries
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
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Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFC1 | Candidate gene tested in | Not yet assessed | HGNC:18292 | ENSG00000136698 | 605194 | 2q21.1 | cryptic, EGF-CFC family member 1 | 11799476[PMID] |
| GDF1 | Major susceptibility factor in | Not yet assessed | HGNC:4214 | ENSG00000130283 | 602880 | 19p13.11 | growth differentiation factor 1 | |
| MED13L | Major susceptibility factor in | Not yet assessed | HGNC:22962 | ENSG00000123066 | 608771 | 12q24.21 | mediator complex subunit 13L | |
| ZIC3 | Major susceptibility factor in | Assessed | HGNC:12874 | ENSG00000156925 | 300265 | Xq26.3 | Zic family zinc finger 3 | 23427188[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/216718
- This record as JSON: /data/d/216718.json