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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

HSD10 disease, atypical type

1 OMIM reference -
1 associated gene
4 signs/symptoms

Pseudohypoaldosteronism type 2E

HSD10 disease, atypical type

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	HSD17B10

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		HSD10 disease, atypical type
	Synonym(s): - PHA2E		Synonym(s): - HSD10 deficiency, atypical type - Syndromic X-linked intellectual disability type 10 - X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome

	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: childhood 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

HSD10 disease, atypical type
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance
Pseudohypoaldosteronism type 2E
(no data available)