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Juvenile Paget disease
1 OMIM reference -
1 associated gene
8 connected diseases
18 signs/symptoms
Disease Type of connection
Autosomal recessive malignant osteopetrosis
Fibronectin glomerulopathy
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Synonym(s):
- Familial osteoectasia
- Hereditary hyperphosphatasia
- Hyperostosid corticalis deformans juvenilis
- JPG
- Juvenile Paget's disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -
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:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TNFRSF11B O00300602643
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
- Chronic arterial hypertension
- 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