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Idiopathic juvenile osteoporosis
2 OMIM references -
4 associated genes
21 connected diseases
6 signs/symptoms
Disease Type of connection
Hyperostosis corticalis generalisata
Familial exudative vitreoretinopathy
Retinopathy of prematurity
Autosomal dominant osteopetrosis type 1
Autosomal dominant osteosclerosis, Worth type
Osteoporosis - pseudoglioma
Osteosclerosis - developmental delay - craniosynostosis
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis
Heritable pulmonary arterial hypertension
Focal dermal hypoplasia
Severe combined immunodeficiency due to CORO1A deficiency
Craniodiaphyseal dysplasia
Sclerosteosis
Autosomal recessive Robinow syndrome
Brachydactyly type B
Coats disease
Norrie disease
Persistent hyperplastic primary vitreous
Simpson-Golabi-Behmel syndrome
Synonym(s):
- IJO
- Juvenile osteoporosis
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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
DKK1 O94907605189
LRP5 O75197603506
WNT1 P04628164820
WNT3A P56704606359
Very frequent
- Bone pain
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets

Frequent
- Abnormal gait
- Motor deficit / trouble

Occasional
- Kyphosis