ODCs

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2 OMIM references -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

2 OMIM references -
2 associated genes
8 signs/symptoms

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Hypoplastic left heart syndrome

AGK	(UniProt - OMIM)		GJA1	(UniProt - OMIM)
SLC25A4	(UniProt - OMIM)		NKX2-5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC25A4	(0.63)	GJA1

Citations in the biomedical literature:

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Hypoplastic left heart syndrome
	Synonym(s): - Sengers syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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: 2 OMIM references - 1 MeSH reference: C538280		External references: 2 OMIM references - 1 MeSH reference: D018636

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Hypoplastic left heart syndrome
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Cataract / lens opacification - Myopathy - Nystagmus - Organic acid metabolism anomalies - Strabismus / squint Frequent - Myopia Occasional - Abnormal ERG / electroretinogram / electroretinography - Corneal dystrophy - Glaucoma		Very frequent - Hypoplastic left heart / ventricle 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