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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
18 signs/symptoms
Fibronectin glomerulopathy
Juvenile Paget disease

FN1 TNFRSF11B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FN1
(0.52)
TNFRSF11B



Citations in the biomedical literature:


Fibronectin glomerulopathy
FN1
Juvenile Paget disease
TNFRSF11B



Fibronectin glomerulopathy
Juvenile Paget disease

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

Synonym(s):
- Familial osteoectasia
- Hereditary hyperphosphatasia
- Hyperostosid corticalis deformans juvenilis
- JPG
- Juvenile Paget's disease

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):
- Diseases of the musculoskeletal system and connective tissue -

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: normal
Type of inheritance: autosomal recessive

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


COMMON
SIGNS
- Chronic arterial hypertension


Fibronectin glomerulopathy
Juvenile Paget disease

Very frequent
- Autosomal dominant inheritance
- 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
- Anomalies of teeth and dentition
- Autosomal recessive inheritance
- Bowed diaphysis / diaphyses / long bones
- Clavicle absent / abnormal
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Hyperuricemia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Rough trabeculation of bone
- Short stature / dwarfism / nanism

Frequent
- Hearing loss / hypoacusia / deafness
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pectus carinatum
- Retinitis pigmentosa / retinal pigmentary changes

Occasional
- Pigmented naevi / naevus pigmentosus / lentigo
- Subcutaneous nodules / lipomas / tumefaction / swelling