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Hypoplastic left heart syndrome

2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Severe congenital nemaline myopathy

4 associated genes
No signs/symptoms info

Hypoplastic left heart syndrome

Severe congenital nemaline myopathy

GJA1	(UniProt - OMIM)		ACTA1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)		KLHL40	(UniProt - OMIM)
			KLHL41	(UniProt - OMIM)
			NEB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	ACTA1

Citations in the biomedical literature:

Hypoplastic left heart syndrome		Severe congenital nemaline myopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac disease		Classification (Orphanet): - 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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 2 OMIM references - 1 MeSH reference: D018636		External references: No 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
Severe congenital nemaline myopathy
(no data available)