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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Fibronectin glomerulopathy
Alpha-1-antitrypsin deficiency

FN1 SERPINA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.63)
SERPINA1



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Alpha-1-antitrypsin deficiency
SERPINA1



Fibronectin glomerulopathy
Alpha-1-antitrypsin deficiency

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

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the genitourinary system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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: 1-5 / 10 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C531610 / D019896


COMMON
SIGNS
- Nephrotic syndrome


Fibronectin glomerulopathy
Alpha-1-antitrypsin deficiency

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
- Proteinuria
- Renal failure
- Renal glomerular defect / glomerulopathy

Occasional
- Intracranial / cerebral / meningeal hemorrhage


Very frequent
- Autosomal recessive inheritance
- Emphysema
- Hepatocellular liver disease / hepatic failure

Frequent
- Hepatitis / icterus / cholestasis
- Hepatomegaly / liver enlargement (excluding storage disease)