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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
13 signs/symptoms
Fibronectin glomerulopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

FN1 CCT5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.72)
CCT5



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Hereditary sensory and autonomic neuropathy with spastic paraplegia
CCT5



Fibronectin glomerulopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

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

Synonym(s):
- HSAN with spastic paraplegia

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: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Fibronectin glomerulopathy
Hereditary sensory and autonomic neuropathy with spastic paraplegia

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
- Abnormal gait
- Auto-aggressivity / auto-mutilation
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysautonomia / autonomous nervous sytem anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypereflexia
- Hypertonia / spasticity / rigidity / stiffness
- Insensitivity to pain
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Peripheral neuropathy

Frequent
- Nerve conduction abnormality

Occasional
- Osteomyelitis / osteitis / periostitis / spondylodisciitis