idiopathic juvenile osteoporosis
Findings
No curated finding names idiopathic juvenile osteoporosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization childhood or adolescence that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. Onset usually occurs in the prepubertal period, between 8 and 12 years of age.
Definition from the Mondo Disease Ontology (MONDO:0019409), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Vertebral compression fractureHPOHP:0002953
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Occasional (5% to 29% of cases)
- Reduced bone mineral densityMondoHP:0004349
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- WNT1HGNC:12774
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
Other names
4 names
Resolves to: idiopathic juvenile osteoporosis
- Also called
- IJOjuvenile osteoporosisPaediatric osteoporosisPediatric osteoporosis