ORPHA:498481
LRP5-related primary osteoporosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LRP5-related primary osteoporosis | |
| fr | Ostéoporose primaire associée à LRP5 | |
| de | Osteoporose, primäre, LRP5-assoziierte | |
| es | Osteoporosis primaria asociada al gen LRP5 | |
| it | Osteoporosi primitiva correlata a LRP5 | |
| nl | LRP5-gerelateerde primaire osteoporose | |
| pt | Osteoporose primária LRP5-relacionada | |
| pl | Pierwotna osteoporoza związana z LRP5 | |
| cs | LRP5-vázaná primární osteoporóza | |
| uk | Первинний остеопороз, повязаний з LRP5 | |
| zh | LRP5相关原发性骨质疏松症 | |
| tr | LRP5-ilişkili primer osteoporoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M85.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | attributed | validated |
| MONDO | 0044675 | E | validated | |
| UMLS | C5567241 | 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 (1):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 15824851[PMID] |
| LRP5 | Major susceptibility factor in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 15824851[PMID]_22487062[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 15824851[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498481
- This record as JSON: /data/d/498481.json