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Atrial septal defect - atrioventricular conduction defects
1 OMIM reference -
1 associated gene
3 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Tetralogy of Fallot
1 OMIM reference -
9 associated genes
13 signs/symptoms
Atrial septal defect - atrioventricular conduction defects
Tetralogy of Fallot

NKX2-5
(UniProt - OMIM)
 CITED2
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA5
(UniProt - OMIM)
GATA6
(UniProt - OMIM)
GDF1
(UniProt - OMIM)
GJA5
(UniProt - OMIM)
JAG1
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
ZFPM2
(UniProt - OMIM)

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


Citations in the biomedical literature:


Atrial septal defect - atrioventricular conduction defects
NKX2-5
Tetralogy of Fallot
CITED2 GATA4 GATA5 GATA6 GDF1 GJA5
JAG1 ZFPM2



Atrial septal defect - atrioventricular conduction defects
Tetralogy of Fallot

Classification (Orphanet):
- Rare cardiac disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- 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:
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
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D013771
COMMON
SIGNS 		- Autosomal dominant inheritance

Atrial septal defect - atrioventricular conduction defects
Tetralogy of Fallot

Very frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac septal defect



Very frequent
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes