ORPHA:99068

Complete atrioventricular septal defect-tetralogy of Fallot

Synonyms: CAVC-tetralogy of Fallot · Complete AVSD-tetralogy of Fallot · Complete atrioventricular canal defect-tetralogy of Fallot

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant, Not applicable
Status: active

This disease is described under Complete atrioventricular septal defect

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Complete atrioventricular septal defect-tetralogy of Fallot	CAVC-tetralogy of Fallot · Complete AVSD-tetralogy of Fallot · Complete atrioventricular canal defect-tetralogy of Fallot
fr	Canal atrioventriculaire complet-tétralogie de Fallot	CAVC-tétralogie de Fallot · Communication atrioventriculaire complète-tétralogie de Fallot · Communication auriculo-ventriculaire complète-tétralogie de Fallot · Défaut complet du septum atrioventriculaire-tétralogie de Fallot · Défaut septal atrioventriculaire complet-tétralogie de Fallot · Défaut septal auriculo-ventriculaire complet-tétralogie de Fallot
de	Kompletter atrioventrikulärer Septumdefekt mit Fallot-Tetralogie	CAVC-Fallot-Tetralogie · Kompletter AV-Kanal-Defekt mit Fallot-Tetralogie · Kompletter AVSD mit Fallot-Tetralogie
es	Defecto del septo aurículoventricular completo con Tetralogía de Fallot	CAVC con Tetralogía de Fallot · Canal aurículoventricular completo con Tetralogía de Fallot
it	CAVC - tetralogia di Fallot
nl	Compleet atrioventriculair septumdefect - tetralogie van Fallot	CAVC - tetralogie van Fallot · Compleet AVSD - tetralogie van Fallot · Compleet defect van atrioventriculair kanaal - tetralogie van Fallot
pt	Canal auriculoventricular completo-tetralogia de Fallot
pl	Zespół całkowitego kanału przedsionkowo-komorowego i tetralogii Fallota	CAVC typu C · Zespół CAVC i tetralogii Fallota · Całkowity kanał przedsionkowo-komorowy typu C
cs	Syndrom kompletního AV kanálu s Fallotovou tetralogií	CAVC typ C · Syndrom zahrnující CAVC a Fallotovu tetralogii · Kompletní atrioventrikulární kanál, typ C
uk	Повна атріовентрикулярна комунікація-тетрада Фалло	CAVC-тетралогія Фалло · Повна вада атріовентрикулярного каналу - тетрада Фалло · Повна AVSD-тетралогія Фалло
zh	完全性房室间隔缺损-法洛四联症	完全性房室通道缺损-法洛四联症
tr	Tam atriyoventriküler septal defekt-Fallot tetralojisi	Fallot CAVC tetralojisi · Fallot tam AVSD tetralojisi · Tam atriyoventriküler kanal defekti-Fallot tetralojisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	615779	NTBT		validated
ICD-10	Q21.2	NTBT	attributed	validated
ICD-11	LA87.45	E	specific	validated
MONDO	0020408	E		validated
UMLS	C3640086	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:1329Complete atrioventricular septal defect
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases

No children.

Genes

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GATA4	Disease-causing germline mutation(s) in	Assessed	HGNC:4173	ENSG00000136574	600576	8p23.1	GATA binding protein 4	18672102[PMID]_17643447[PMID]
CRELD1	Major susceptibility factor in	Assessed	HGNC:14630	ENSG00000163703	607170	3p25.3	CRELD disulfide isomerase 1	12632326[PMID]_15096951[PMID]
NR2F2	Major susceptibility factor in	Assessed	HGNC:7976	ENSG00000185551	107773	15q26.2	nuclear receptor subfamily 2 group F member 2	24702954[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/99068
This record as JSON: /data/d/99068.json