ODCs

Click node...

1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Adenine phosphoribosyltransferase deficiency

Hypoxanthine guanine phosphoribosyltransferase partial deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.49)	HPRT1

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Hypoxanthine guanine phosphoribosyltransferase partial deficiency
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		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): - Inborn errors of metabolism - 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): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		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

Adenine phosphoribosyltransferase deficiency
	Very frequent - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Hematuria / microhematuria - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections - Renal failure
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
(no data available)