ODCs

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1 OMIM reference -
1 associated gene
7 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
1 associated gene
10 signs/symptoms

Adenine phosphoribosyltransferase deficiency

Fibronectin glomerulopathy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	APRT	(0.63)	FN1

Citations in the biomedical literature:

Adenine phosphoribosyltransferase deficiency		Fibronectin glomerulopathy
	Synonym(s): - 2,8-dihydroxyadenine urolithiasis - APRT deficiency		Synonym(s): - GFND - Glomerulopathy with fibronectin deposits

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

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

	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: <1 / 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: 2 OMIM references - No MeSH references


COMMON SIGNS	- Hematuria / microhematuria - Renal failure

Adenine phosphoribosyltransferase deficiency		Fibronectin glomerulopathy
	Very frequent - Autosomal recessive inheritance - Urinary / renal lithiasis / kidney stones / nephritic colic Frequent - Renal disease / nephropathy Occasional - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Recurrent urinary infections		Very frequent - Autosomal dominant inheritance - Chronic arterial hypertension - Edema of the legs / lower limbs - Functional anomalies of the kidney and the urinary tract - Nephrotic syndrome - Proteinuria - Renal glomerular defect / glomerulopathy Occasional - Intracranial / cerebral / meningeal hemorrhage