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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
4 signs/symptoms
Fibronectin glomerulopathy
Localized epidermolysis bullosa simplex

FN1 KRT14
KRT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.72)
KRT5



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Localized epidermolysis bullosa simplex
KRT14 KRT5



Fibronectin glomerulopathy
Localized epidermolysis bullosa simplex

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

Synonym(s):
- EBS-loc
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance


Fibronectin glomerulopathy
Localized epidermolysis bullosa simplex

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
- Ecchymoses
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Hyperhidrosis / increased sweating