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2 OMIM references -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
10 signs/symptoms
Fibronectin glomerulopathy
Metaphyseal anadysplasia

FN1 MMP13
MMP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.52)
MMP9



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Metaphyseal anadysplasia
MMP13 MMP9



Fibronectin glomerulopathy
Metaphyseal anadysplasia

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

Synonym(s):
- Maroteaux-Verloes-Stanescu syndrome
- Regressive metaphyseal dysplasia

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: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537351

Fibronectin glomerulopathy
Metaphyseal anadysplasia

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
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Lower limb segmental anomalies
- Metaphyseal anomaly
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- X-linked recessive inheritance