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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
4 associated genes
No signs/symptoms info
Fibronectin glomerulopathy
Isolated ATP synthase deficiency

FN1 ATP5A1
ATP5E
ATPAF1
ATPAF2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.72)
ATP5A1



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Isolated ATP synthase deficiency
ATP5A1 ATP5E ATPAF1 ATPAF2



Fibronectin glomerulopathy
Isolated ATP synthase deficiency

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

Synonym(s):
- Isolated mitochondrial respiratory chain complex V deficiency

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

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
No MeSH references
External references:
3 OMIM references -
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


Isolated ATP synthase deficiency

(no data available)