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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Moyamoya disease

4 OMIM references -
2 associated genes
6 signs/symptoms

Pseudohypoaldosteronism type 2E

Moyamoya disease

CUL3	(UniProt - OMIM)		ACTA2	(UniProt - OMIM)
			RNF213	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	ACTA2

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Moyamoya disease
	Synonym(s): - PHA2E		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Diseases of the circulatory system -

	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: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 2 MeSH references: C536991 / D009072

Moyamoya disease
	Very frequent - Autosomal recessive inheritance - Vascular anomalies of skin / mucosae Frequent - Cerebral vascular anomalies - Dilated cerebral ventricles without hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus
Pseudohypoaldosteronism type 2E
(no data available)