ODCs

Click node...

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

Hypoxanthine guanine phosphoribosyltransferase partial deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	HPRT1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Hypoxanthine guanine phosphoribosyltransferase partial deficiency
	Synonym(s): - PHA2E		Synonym(s): - HPRT deficiency, grade I - HPRT partial deficiency - HPRT-related gout - HPRT-related hyperuricemia - HPRT1 partial deficiency - Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency - Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I - Kelley-Seegmiller syndrome

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

	Classification (ICD10): - Diseases of the circulatory system -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: unknown Average age onset: variable Average age of death: normal 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.