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Juvenile Paget disease

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Fibronectin glomerulopathy

2 OMIM references -
1 associated gene
10 signs/symptoms

Juvenile Paget disease

Fibronectin glomerulopathy

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Juvenile Paget disease		Fibronectin glomerulopathy
	Synonym(s): - Familial osteoectasia - Hereditary hyperphosphatasia - Hyperostosid corticalis deformans juvenilis - JPG - Juvenile Paget's disease		Synonym(s): - GFND - Glomerulopathy with fibronectin deposits

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare genetic disease - Rare renal disease

	Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -		Classification (ICD10): - Diseases of the genitourinary system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal 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


COMMON SIGNS	- Chronic arterial hypertension

Juvenile Paget disease		Fibronectin glomerulopathy
	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		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