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Atrial septal defect - atrioventricular conduction defects
1 OMIM reference -
1 associated gene
28 connected diseases
3 signs/symptoms
Disease Type of connection
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
Tetralogy of Fallot
Athyreosis
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Thyroid hypoplasia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Holt-Oram syndrome
Kabuki syndrome
Familial pancreatic carcinoma
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Myhre syndrome
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: no data available
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NKX2-5 P52952600584
Very frequent
- Autosomal dominant inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac septal defect