ODCs

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
13 signs/symptoms

Pseudohypoaldosteronism type 2E

Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy

CUL3	(UniProt - OMIM)		AGK	(UniProt - OMIM)
			SLC25A4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	AGK

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
	Synonym(s): - PHA2E		Synonym(s): - Sengers syndrome

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare cardiac disease - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

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

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
Pseudohypoaldosteronism type 2E
(no data available)