ORPHA:296
Ollier disease
Synonyms: Enchondromatosis Spranger type I · Multiple Enchondromatosis type I · Multiple Enchondromatosis, Ollier type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare primary bone dysplasia characterized by multiple enchondromas (benign cartilage-forming tumors). The lesions are generally unilateral or asymmetrically distributed. The most common affected site is the appendicular skeleton.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ollier disease | Enchondromatosis Spranger type I · Multiple Enchondromatosis type I · Multiple Enchondromatosis, Ollier type |
| fr | Maladie d'Ollier | Hémichondrodystrophie type Ollier |
| de | Ollier-Krankheit | Dyschondroplasie |
| es | Enfermedad de Ollier | Discondroplasia |
| it | Encondromatosi | Discondroplasia · Malattia di Maffucci · Malattia di Ollier |
| nl | Ziekte van Ollier | Dyschondroplasie |
| pt | Doença Ollier | Discondroplasia |
| pl | Choroba Olliera | Choroba Olliera · Dyschondroplazja |
| cs | Enchondromatóza | Dyschondroplázie · Olliérova choroba |
| uk | Хвороба Ольє | Енхондроматоз Шпрангера тип I · Множинний енхондроматоз I типу · Множинний енхондроматоз, тип Ольє |
| zh | 内生软骨瘤 | 软骨发育不良 |
| tr | Ollier hastalığı | Diskondroplazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166000 | E | validated | |
| ICD-10 | Q78.4 | E | specific | validated |
| ICD-11 | 2E83.Z | NTBT | index | validated |
| MONDO | 0008145 | E | validated | |
| MeSH | D004687 | E | validated | |
| UMLS | C0014084 | E | validated | |
| GARD | 7251 | E | validated | |
| MedDRA | 10014642 | 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 (6):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTH1R | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9608 | ENSG00000160801 | 168468 | 3p21.31 | parathyroid hormone 1 receptor | 11850620[PMID]_18559376[PMID] |
| IDH1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5382 | ENSG00000138413 | 147700 | 2q34 | isocitrate dehydrogenase (NADP(+)) 1 | 22057236[PMID]_22057234[PMID] |
| IDH2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:5383 | ENSG00000182054 | 147650 | 15q26.1 | isocitrate dehydrogenase (NADP(+)) 2 | 22057236[PMID]_22057234[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | 16995932[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.
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HPO phenotypes
26 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002763 | Abnormal cartilage morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001028 | Hemangioma | |
| HP:0002983 | Micromelia | |
| HP:0005701 | Multiple enchondromatosis | |
| HP:0002797 | Osteolysis | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0002653 | Bone pain | |
| HP:0001387 | Joint stiffness | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0006765 | Chondrosarcoma | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0002967 | Cubitus valgus | |
| HP:0000324 | Facial asymmetry | |
| HP:0002857 | Genu valgum | |
| HP:0002970 | Genu varum | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0100764 | Lymphangioma | |
| HP:0003067 | Madelung deformity | |
| HP:0002664 | Neoplasm | |
| HP:0002756 | Pathologic fracture | |
| HP:0100242 | Sarcoma | |
| HP:0002650 | Scoliosis | |
| HP:0200042 | Skin ulcer | |
| HP:0100560 | Upper limb asymmetry | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26091223[PMID]_16995932[PMID]_30872199[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/296
- This record as JSON: /data/d/296.json