ODCs

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2 OMIM references -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
14 signs/symptoms

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

Craniometaphyseal dysplasia

AGK	(UniProt - OMIM)		ANKH	(UniProt - OMIM)
SLC25A4	(UniProt - OMIM)		GJA1	(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		Craniometaphyseal dysplasia
	Synonym(s): - Sengers syndrome		Synonym(s): - CMD

	Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

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

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy		Craniometaphyseal dysplasia
	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		Very frequent - Autosomal dominant inheritance - Broad nasal root - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Depressed nasal bridge - Hypertelorism - Metaphyseal anomaly - Osteosclerosis / osteopetrosis / bone condensation Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Telecanthus / canthal dystopy Occasional - Conductive deafness / hearing loss - Cranial nerve anomalies - Facial palsy - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia