ORPHA:85197
Genochondromatosis type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genochondromatosis type 1 | |
| fr | Génochondromatose type 1 | |
| de | Genochondromatose Typ 1 | |
| es | Genocondromatosis tipo 1 | |
| it | Genocondromatosi, tipo 1 | |
| nl | Genochondromatose type 1 | |
| pt | Genocondromatose | |
| pl | Genochondromatoza | |
| cs | Genochondromatóza, typ 1 | |
| uk | Генохондроматоз, тип 1 | |
| zh | 遗传性软骨瘤病1型 | |
| tr | Genokondromatoz tip 1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137360 | NTBT | validated | |
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0019411 | E | validated | |
| UMLS | C5438970 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000889 | Abnormality of the clavicle | |
| HP:0002815 | Abnormality of the knee | |
| HP:0005701 | Multiple enchondromatosis | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85197
- This record as JSON: /data/d/85197.json