ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
No signs/symptoms info

Adenine phosphoribosyltransferase deficiency

Constitutional mismatch repair deficiency syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.63)	MLH1

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Constitutional mismatch repair deficiency syndrome
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		Synonym(s): - CMMR-D syndrome

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

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): (no data available)

	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: - Average age onset: childhood Average age of death: - Type of inheritance: autosomal 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
Constitutional mismatch repair deficiency syndrome
(no data available)