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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
3 associated genes
7 signs/symptoms
Fibronectin glomerulopathy
Bethlem myopathy

FN1 COL6A1
COL6A2
COL6A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.52)
COL6A2



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Bethlem myopathy
COL6A1 COL6A2 COL6A3



Fibronectin glomerulopathy
Bethlem myopathy

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

Synonym(s):
- Benign autosomal dominant myopathy

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535436


COMMON
SIGNS
- Autosomal dominant inheritance


Fibronectin glomerulopathy
Bethlem myopathy

Very frequent
- 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


Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase
- Camptodactyly of fingers
- Myopathy
- Restricted joint mobility / joint stiffness / ankylosis
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy