ODCs

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2 OMIM references -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Familial isolated congenital asplenia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SLC25A4	(0.49)	RPSA

Citations in the biomedical literature:

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Familial isolated congenital asplenia
	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare immune 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: C538280		External references: 1 OMIM reference - No MeSH references

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
	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 - Stillbirth / neonatal death Occasional - Abnormal ERG / electroretinogram / electroretinography - Corneal dystrophy - Glaucoma
Familial isolated congenital asplenia
(no data available)