ORPHA:99042
Congenitally uncorrected transposition of the great arteries with coarctation
Synonyms: Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation
- 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 | Congenitally uncorrected transposition of the great arteries with coarctation | Congenitally uncorrected transposition of the great vessels with coarctation · TGA with coarctation |
| fr | Transposition congénitalement non corrigée des gros vaisseaux avec coarctation | TGV avec coarctation · Transposition congénitalement non corrigée des grosses artères avec coarctation |
| de | Kongenitale unkorrigierte Transposition der großen Arterien mit Koarktation | Kongenitale nicht korrigierte Transposition der großen Gefäße mit Koarktation · TGA mit Koarktation |
| es | Transposición de las grandes arterias congénitamente no corregida con coartación | TGA con coartación · Transposición de los grandes vasos congénitamente no corregida con coartación |
| it | Trasposizione congenitamente non corretta delle grandi arterie con coartazione | TGA con coartazione · Trasposizione congenitamente non corretta dei grandi vasi con coartazione |
| nl | Congenitaal ongecorrigeerde transpositie van grote slagaders met coarctatie | Congenitaal ongecorrigeerde transpositie van grote bloedvaten met coarctatie · TGA met coarctatie |
| pt | Transposição de grandes vasos com coarctação | |
| pl | Wrodzona nieskorygowana transpozycja wielkich pni tętniczych z koarktacją | TGA z koarktacją · Wrodzona nieskorygowana transpozycja wielkich naczyń z koarktacją |
| cs | Vrozená nekorigovaná transpozice velkých arterií s koarktací | Vrozená nekorigovaná transpozice velkých cév s koarktací · TGA s koarktací |
| uk | Вроджена некорегована транспозиція великих артерій (магістральних судин) з коарктацією аорти | Вроджена невиправлена транспозиція магістральних судин з коарктацією · TGA з коагуляцією |
| zh | 先天性未矫正的大动脉转位伴缩窄 | 大血管转位伴缩窄 |
| tr | Doğumsal koarktasyon ilişkili büyük arterlerin yanlış transpozisyonu | Koarktasyonlu büyük damarların doğumsal düzeltilmemiş transpozisyonu · Koarktasyon ile seyreden TGA |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.3 | NTBT | attributed | validated |
| MONDO | 0020385 | E | validated | |
| UMLS | C5680321 | 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
1 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] |
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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/99042
- This record as JSON: /data/d/99042.json