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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Fibronectin glomerulopathy
Congenital lactic acidosis, Saguenay-Lac-St. Jean type

FN1 LRPPRC


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Congenital lactic acidosis, Saguenay-Lac-St. Jean type
LRPPRC



Fibronectin glomerulopathy
Congenital lactic acidosis, Saguenay-Lac-St. Jean type

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

Synonym(s):
- French-Canadian type COX deficiency
- French-Canadian type Leigh syndrome
- French-Canadian type cytochrome C oxidase deficiency
- SLSJ-COX deficiency
- Saguenay-Lac-St. Jean cytochrome oxidase deficiency
- Saguenay-Lac-St. Jean type Leigh syndrome

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

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Diseases of the nervous system -

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: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

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

Fibronectin glomerulopathy

Very frequent
- Autosomal dominant inheritance
- Chronic arterial hypertension
- Edema of the legs / lower limbs
- Functional anomalies of the kidney and the urinary tract
- Hematuria / microhematuria
- Nephrotic syndrome
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Congenital lactic acidosis, Saguenay-Lac-St. Jean type

(no data available)