ORPHA:2783
Autosomal dominant osteopetrosis type 1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant osteopetrosis type 1 | |
| fr | Ostéopétrose autosomique dominante type 1 | |
| de | Osteopetrose, autosomal-dominante, Typ 1 | |
| es | Osteopetrosis dominante tipo 1 | |
| it | Osteopetrosi autosomica dominante, tipo 1 | |
| nl | Autosomaal dominante osteopetrose type 1 | |
| pt | Osteopetrose autossómica dominante tipo 1 | |
| pl | Autosomalna dominująca osteopetroza typu 1 | |
| cs | Autozomálně dominantní osteopetróza, typ 1 | |
| uk | Аутосомно-домінантний остеопетроз, тип 1 | |
| zh | 常染色体显性骨硬化症1型 | |
| tr | Otozomal dominant osteopetroz tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607634 | E | validated | |
| ICD-10 | Q78.2 | NTBT | inclusion | validated |
| ICD-11 | LD24.10 | NTBT | index | validated |
| MONDO | 0011877 | E | validated | |
| MeSH | C536056 | E | validated | |
| UMLS | C1843330 | E | validated | |
| GARD | 4151 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 21600326[PMID]_12579474[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
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/2783
- This record as JSON: /data/d/2783.json