X-linked osteoporosis with fractures
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked osteoporosis with fractures | |
| fr | Ostéoporose liée à l'X avec fractures | |
| de | Osteoporose mit Knochenbrüchen, X-chromosomal | |
| es | Osteoporosis ligada al cromosoma X con fracturas | |
| it | Osteoporosi legata all'X con fratture | |
| nl | X-gebonden osteoporose met fracturen | |
| pt | Osteoporose com fracturas, ligada ao cromossoma X | |
| pl | Osteoporoza ze złamaniami sprzężona z chromosomem X | |
| cs | X-vázaná osteoporóza s frakturami | |
| uk | Х-зчеплений остеопороз з переломами | |
| zh | X连锁骨质疏松伴骨折 | |
| tr | Kırıklar ile seyreden X'e bağlı osteoporoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300910 | ND | validated | |
| ICD-10 | M80.5 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | attributed | validated |
| MONDO | 0018315 | E | validated | |
| UMLS | C5190610 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLS3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9091 | ENSG00000102024 | 300131 | Xq23 | plastin 3 | 24088043[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 families | Worldwide | Family(ies) | Validated | 24088043[PMID]_24616189[PMID]_25209159[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24088043[PMID]_24616189[PMID]_25209159[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391330
- This record as JSON: /data/d/391330.json