ORPHA:2499
Metachondromatosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Metachondromatosis (MC) is a rare disorder characterized by the presence of both multiple enchondromas and osteochondroma-like lesions.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metachondromatosis | |
| fr | Métachondromatose | |
| de | Metachondromatose | |
| es | Metacondromatosis | |
| it | Metacondromatosi | |
| nl | Metachondromatose | |
| pt | Metacondromatose | |
| pl | Metachondromatoza | |
| cs | Metachondromatóza | |
| uk | Метахондроматоз | |
| zh | 混合性软骨瘤病 | |
| tr | Metakondromatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156250 | E | validated | |
| ICD-10 | Q78.4 | NTBT | attributed | validated |
| ICD-11 | LD24.2Y | NTBT | index | validated |
| MONDO | 0007979 | E | validated | |
| MeSH | C562938 | E | validated | |
| UMLS | C0410530 | E | validated | |
| GARD | 3560 | 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:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTPN11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9644 | ENSG00000179295 | 176876 | 12q24.13 | protein tyrosine phosphatase non-receptor type 11 | 21533187[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 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
7 annotations · validated 2017-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0010885 | Avascular necrosis | |
| HP:0002653 | Bone pain | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0100777 | Exostoses | |
| HP:0005701 | Multiple enchondromatosis | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2499
- This record as JSON: /data/d/2499.json