ODCs

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

PROTEIN INTERACTIONS: 1

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

Pseudohypoaldosteronism type 2E

Severe X-linked mitochondrial encephalomyopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	AIFM1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Severe X-linked mitochondrial encephalomyopathy
	Synonym(s): - PHA2E		Synonym(s): - Mitochondrial encephalomyopathy due to COXPD6 - Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): (no data available)

	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: x-linked recessive

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

No signs/symptoms info available.