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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
10 signs/symptoms
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Fibronectin glomerulopathy

HSPD1 FN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
FN1



Citations in the biomedical literature:


Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1
Fibronectin glomerulopathy
FN1



Pelizaeus-Merzbacher-like due to HSPD1 mutation
Fibronectin glomerulopathy

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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


Pelizaeus-Merzbacher-like due to HSPD1 mutation

(no data available)