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2 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Hypoplastic left heart syndrome
Terminal osseous dysplasia - pigmentary defects

GJA1 FLNA
NKX2-5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
FLNA



Citations in the biomedical literature:


Hypoplastic left heart syndrome
GJA1 NKX2-5
Terminal osseous dysplasia - pigmentary defects
FLNA



Hypoplastic left heart syndrome
Terminal osseous dysplasia - pigmentary defects

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant

External references:
2 OMIM references -
1 MeSH reference: D018636
External references:
1 OMIM reference -
No MeSH references

Hypoplastic left heart syndrome

Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication


Terminal osseous dysplasia - pigmentary defects

(no data available)