Genochondromatosis type 2
- Type
- Disease
- Group
- Disorder
- Age of onset
- Childhood
- Status
- active
Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genochondromatosis type 2 | |
| fr | Génochondromatose type 2 | |
| de | Genochondromatose Typ 2 | |
| es | Genocondromatosis tipo 2 | |
| it | Genocondromatosi, tipo 2 | |
| nl | Genochondromatose type 2 | |
| pt | Genocondromatose tipo 2 | |
| pl | Genochondromatoza typu 2 | |
| cs | Genochondromatóza, typ 2 | |
| uk | Генохондроматоз, тип 2 | |
| zh | 遗传性软骨瘤病2型 | |
| tr | Genokondromatoz tip 2 |
Definition in:
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 | 0019680 | E | validated | |
| UMLS | C4511481 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 17632779[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17632779[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93398
- This record as JSON: /data/d/93398.json