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2 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
No signs/symptoms info
Hypoplastic left heart syndrome
Autosomal dominant Emery-Dreifuss muscular dystrophy

GJA1 LMNA
NKX2-5 SYNE1
SYNE2
TMEM43


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GJA1
(0.63)
TMEM43



Citations in the biomedical literature:


Hypoplastic left heart syndrome
GJA1 NKX2-5
Autosomal dominant Emery-Dreifuss muscular dystrophy
LMNA SYNE1 SYNE2 TMEM43



Hypoplastic left heart syndrome
Autosomal dominant Emery-Dreifuss muscular dystrophy

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D018636
External references:
4 OMIM references -
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


Autosomal dominant Emery-Dreifuss muscular dystrophy

(no data available)