Idiopathic juvenile osteoporosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IJO Juvenile osteoporosis |
| Number of Symptoms | 9 |
| OrphanetNr: | 85193 |
| OMIM Id: |
259750
615221 |
| ICD-10: |
M81.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with decreased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0011442) | Abnormality of central motor function | Frequent [Orphanet] | 76 / 7739 | |||
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(HPO:0001288) | Gait disturbance | Frequent [Orphanet] | 318 / 7739 | |||
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(HPO:0002808) | Kyphosis | Occasional [Orphanet] | 289 / 7739 | |||
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(HPO:0002653) | Bone pain | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000939) | Osteoporosis | 129 / 7739 | ||||
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(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
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(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
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(HPO:0012052) | Low serum calcitriol | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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