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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
7 signs/symptoms
Fibronectin glomerulopathy
Adenine phosphoribosyltransferase deficiency

FN1 APRT


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Adenine phosphoribosyltransferase deficiency
APRT



Fibronectin glomerulopathy
Adenine phosphoribosyltransferase deficiency

Synonym(s):
- GFND
- Glomerulopathy with fibronectin deposits

Synonym(s):
- 2,8-dihydroxyadenine urolithiasis
- APRT deficiency

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

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

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

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Hematuria / microhematuria
- Renal failure


Fibronectin glomerulopathy
Adenine phosphoribosyltransferase deficiency

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


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