ORPHA:216729

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Synonyms: Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

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

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenitally uncorrected transposition of the great arteries with cardiac malformation	Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation
fr	Transposition congénitalement non corrigée des gros vaisseaux avec malformation cardiaque	TGV avec malformation cardiaque · Transposition congénitalement non corrigée des grosses artères avec malformation cardiaque
de	Kongenitale unkorrigierte Transposition der großen Arterien mit Herzfehlbildung	Kongenitale nicht korrigierte Transposition der großen Gefäße mit Herzfehlbildung · TGA mit Herzfehlbildung
es	Transposición de las grandes arterias congénitamente no corregida con malformación cardíaca	TGA con malformación cardíaca · Transposición de los grandes vasos congénitamente no corregida con malformación cardíaca
it	Trasposizione congenitamente non corretta delle grandi arterie con malformazione cardiaca	TGA con malformazione cardiaca · Trasposizione congenitamente non corretta dei grandi vasi con malformazione cardiaca
nl	Congenitaal niet-gecorrigeerde transpositie van grote slagaders met hartmalformatie	Congenitaal niet-gecorrigeerde transpositie van grote bloedvaten met hartmalformatie · TGA met hartmalformatie
pt	Transposição das grandes artérias com malformação cardíaca, não corrigida congenitamente
pl	Wrodzone nieskorygowane przełożenie wielkich pni tętniczych z wadą serca	TGA z wadą serca · Wrodzone nieskorygowane przełożenie wielkich naczyń z wadą serca
cs	Vrozeně neopravená transpozice velkých tepen se srdeční malformací	Vrozeně neopravená transpozice velkých cév se srdeční malformací · TGA se srdeční malformací
uk	Вроджена некоригована танспозиція великих артерій (магістральних судин) з внутрішньосерцевими аномаліями	Вроджена некоригована транспозиція магістральних судин з серцевою вадою · ТГА з вадами серця
zh	先天未矫正型大动脉转位伴心脏畸形	TGA伴心脏畸形
tr	Kardiyak malformasyonu ile seyreden büyük arterlerin doğumsal düzeltilmemiş transpozisyonu	Kardiyak malformasyon ile seyreden büyük damarların doğumsal yanlış transpozisyonu · Kardiyak malformasyonlu TGA

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q20.3	NTBT	attributed	validated
MONDO	0016303	E		validated
UMLS	C5679811	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

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.

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]

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.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/216729
This record as JSON: /data/d/216729.json