ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Hypoplastic left heart syndrome

HSPD1	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
			NKX2-5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.63)	GJA1

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Hypoplastic left heart syndrome
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown

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

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
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)