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Atrial septal defect, ostium secundum type
8 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Char syndrome
1 OMIM reference -
1 associated gene
25 signs/symptoms
Atrial septal defect, ostium secundum type
Char syndrome

ACTC1
(UniProt - OMIM)
 TFAP2B
(UniProt - OMIM)
CITED2
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA6
(UniProt - OMIM)
MYH6
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)
TBX20
(UniProt - OMIM)
TLL1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CITED2
(0.87)
TFAP2B


Citations in the biomedical literature:


Atrial septal defect, ostium secundum type
ACTC1 CITED2 GATA4 GATA6 MYH6 NKX2-5
TBX20 TLL1
Char syndrome
TFAP2B



Atrial septal defect, ostium secundum type
Char syndrome

Synonym(s):
- ASD, ostium secundum type
Synonym(s):
- Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
8 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538076
Char syndrome

Very frequent
- Autosomal dominant inheritance
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Everted lower lip
- Flattened nose
- Hypertelorism
- Patent ductus arteriosus
- Ptosis
- Short philtrum
- Thick lips

Frequent
- Clinodactyly of fifth finger

Occasional
- Anodontia / oligodontia / hypodontia
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Myopia
- Polydactyly of toes
- Prominent occiput / occipital bossing
- Somnolence / hypersomnia / parasomnia
- Strabismus / squint
- Supernumerary nipples / polythelia
- Symphalangy of fingers
- Syndactyly of toes
- Upper limb polydactyly / hexadactyly
- Ventricular septal defect / interventricular communication


Atrial septal defect, ostium secundum type

(no data available)