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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
11 signs/symptoms
Fibronectin glomerulopathy
Spondylometaphyseal dysplasia, Schmidt type

FN1 COL2A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.62)
COL2A1



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Spondylometaphyseal dysplasia, Schmidt type
COL2A1



Fibronectin glomerulopathy
Spondylometaphyseal dysplasia, Schmidt type

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

Synonym(s):
- Spondylometaphyseal dysplasia with severe genu valgum
- Spondylometaphyseal dysplasia, Algerian type

Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: -
Average age of death: -
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
Spondylometaphyseal dysplasia, Schmidt type

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
- Genu valgum
- Kyphosis
- Metaphyseal anomaly
- Myopia
- Scoliosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Joint / articular deformation
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality