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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
Fibronectin glomerulopathy
Centripetalis recessive dystrophic epidermolysis bullosa

FN1 COL7A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.85)
COL7A1



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Centripetalis recessive dystrophic epidermolysis bullosa
COL7A1



Fibronectin glomerulopathy
Centripetalis recessive dystrophic epidermolysis bullosa

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

Synonym(s):
- Centripetal dystrophic epidermolysis bullosa
- Centripetal recessive dystrophic epidermolysis bullosa
- RDEB, centripetalis
- RDEB-Ce

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Fibronectin glomerulopathy
Centripetalis recessive dystrophic epidermolysis bullosa

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


Very frequent
- Autosomal recessive inheritance
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Follicular / erythematous / edematous papules / milium