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Partial atrioventricular canal
2 associated genes
31 connected diseases
No signs/symptoms info
Disease Type of connection
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Thyroid hypoplasia
Congenital diaphragmatic hernia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
Holt-Oram syndrome
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):
(no synonyms)
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
1 MeSH reference: C536112
Gene symbol UniProt reference OMIM reference
CRELD1 Q96HD1607170
GATA4 P43694600576
No signs/symptoms info available.