Familial expansile osteolysis
Synonyms: Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary bone dysplasia characterized by abnormal bone metabolism with bone pain, deformity, pathological fractures, early conductive hearing loss, and dental abnormalities. Focal bone lesions are typically found in the appendicular skeleton and consist of progressively expanding lytic areas, while generalized disordered bone modeling and altered trabecular pattern are the result of the multifocal, progressive nature of the disease. Age of onset is variable, mode of inheritance is autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial expansile osteolysis | Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease |
| fr | Ostéolyse expansive familiale | Dysplasie polyostotique ostéolytique expansive héréditaire · Maladie de McCabe |
| de | Osteolyse, expansile familiäre | McCabe-Krankheit · Osteolyse, expansile polyostotische, hereditäre Form |
| es | Osteólisis expansiva familiar | Displasia poliostótica osteolítica expansiva hereditaria · Enfermedad de McCabe |
| it | Osteolisi espansiva familiare | Displasia poliostotica osteolitica espansiva ereditaria · Malattia di McCabe |
| nl | Familiale expansieve osteolyse | Erfelijke expansieve polyostotische osteolytische dysplasie · Ziekte van McCabe |
| pt | Osteólise expansiva, forma familiar | |
| pl | Rodzinna osteoliza ekspansywna | Choroba McCabe'a · Dziedziczna ekspansywna dysplazja osteolityczna |
| cs | Familiární expanzilní osteolýza | Hereditární expanzilní polyostotická osteolytická dysplázie · McCabeova nemoc |
| uk | Сімейний експансивний остеоліз | Спадкова експансивна поліостотична остеолітична дисплазія · Хвороба Маккейба |
| zh | 家族性膨胀性骨质溶解 | 遗传性扩张性多骨性溶骨性发育不良 |
| tr | Ailesel ekspansil osteoliz | McCabe hastalığı · Kalıtsal genişleyen poliostotik osteolitik displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174810 | E | validated | |
| ICD-10 | M89.5 | NTBT | attributed | validated |
| ICD-11 | FB86.2 | NTBT | index | validated |
| MONDO | 0008275 | E | validated | |
| MeSH | C536335 | E | validated | |
| UMLS | C0432292 | E | validated | |
| GARD | 9168 | 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:93449Primary osteolysis
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 |
|---|---|---|---|---|---|---|---|---|
| TNFRSF11A | Disease-causing germline mutation(s) in | Assessed | HGNC:11908 | ENSG00000141655 | 603499 | 18q21.33 | TNF receptor superfamily member 11a | 10615125[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85195
- This record as JSON: /data/d/85195.json