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Complete atrioventricular canal - ventricle hypoplasia
3 associated genes
35 connected diseases
No signs/symptoms info
Disease Type of connection
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Partial atrioventricular canal
Single ventricular septal defect
Congenital diaphragmatic hernia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Pancreatic hypoplasia - diabetes - congenital heart disease
Athyreosis
Thyroid hypoplasia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
Holt-Oram syndrome
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Distal 22q11.2 microdeletion syndrome
17q11 microdeletion syndrome
Familial exudative vitreoretinopathy
Frontonasal dysplasia with alopecia and genital anomaly
Isolated scaphocephaly
Kabuki syndrome
Parietal foramina
Potocki-Shaffer syndrome
Weaver syndrome
5q14.3 microdeletion syndrome
Berardinelli-Seip congenital lipodystrophy
Synonym(s):
- CAVC - ventricle hypoplasia
- CAVC type B
- Complete atrioventricular canal type B
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
CRELD1 Q96HD1607170
GATA4 P43694600576
GATA6 Q92908601656
No signs/symptoms info available.