ORPHA:85193
Idiopathic juvenile osteoporosis
Synonyms: IJO · Juvenile osteoporosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adolescent, Childhood
- Status
- active
Idiopathic juvenile osteoporosis (IJO) is a primary condition of bone demineralization that presents with pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Idiopathic juvenile osteoporosis | IJO · Juvenile osteoporosis |
| fr | Ostéoporose idiopathique juvénile | IJO · OIJ · Ostéoporose juvénile |
| de | Osteoporose, idiopathische juvenile | IJO · Osteoporose, juvenile |
| es | Osteoporosis juvenil idiopática | OJI · Osteoporosis juvenil |
| it | Osteoporosi giovanile idiopatica | IJO · Osteoporosi giovanile |
| nl | Idiopathische juveniele osteoporose | IJO · Juveniele osteoporose |
| pt | Osteoporose juvenil | |
| pl | Idiopatyczna osteoporoza młodzieńcza | IJO · Osteoporoza młodzieńcza |
| cs | Idiopatická juvenilní osteoporóza | IJO · Juvenilní osteoporóza |
| uk | Ідіопатичний ювенільний остеопороз | IJO · Ювенільний остеопороз |
| zh | 特发性青少年骨质疏松症 | 青少年骨质疏松症 |
| tr | İdiyopatik jüvenil osteoporoz | IJO · Jüvenil osteoporoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259750 | BTNT | validated | |
| OMIM | 615221 | BTNT | validated | |
| ICD-10 | M81.5 | NTBT | attributed | validated |
| ICD-11 | FB83.1Y | NTBT | index | validated |
| MONDO | 0019409 | E | validated | |
| MeSH | C537700 | E | validated | |
| UMLS | C0264080 | E | validated | |
| GARD | 6760 | E | validated | |
| MedDRA | 10088561 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:486955Rare pediatric rheumatologic disease
rare systemic or rheumatologic diseases of childhood - ORPHA:182231Rare rheumatologic disease
rare systemic and rheumatological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DKK1 | Major susceptibility factor in | Assessed | HGNC:2891 | ENSG00000107984 | 605189 | 10q21.1 | dickkopf Wnt signaling pathway inhibitor 1 | 22789636[PMID] |
| WNT1 | Major susceptibility factor in | Assessed | HGNC:12774 | ENSG00000125084 | 164820 | 12q13.12 | Wnt family member 1 | 23499309[PMID] |
| WNT3A | Major susceptibility factor in | Assessed | HGNC:15983 | ENSG00000154342 | 606359 | 1q42.13 | Wnt family member 3A | 22789636[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002653 | Bone pain | |
| HP:0000939 | Osteoporosis | |
| HP:0002757 | Recurrent fractures | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0002953 | Vertebral compression fracture | |
| Occasional (29-5%) | ||
| HP:0002808 | Kyphosis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85193
- This record as JSON: /data/d/85193.json