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3 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
8 signs/symptoms
Complete atrioventricular canal - ventricle hypoplasia
Hypoplastic left heart syndrome

CRELD1 GJA1
GATA4 NKX2-5
GATA6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GATA4
(0.96)
NKX2-5



Citations in the biomedical literature:


Complete atrioventricular canal - ventricle hypoplasia
CRELD1 GATA4 GATA6
Hypoplastic left heart syndrome
GJA1 NKX2-5



Complete atrioventricular canal - ventricle hypoplasia
Hypoplastic left heart syndrome

Synonym(s):
- CAVC - ventricle hypoplasia
- CAVC type B
- Complete atrioventricular canal type B

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: D018636

Hypoplastic left heart syndrome

Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication


Complete atrioventricular canal - ventricle hypoplasia

(no data available)