Chondromyxoid fibroma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare bone tumor characterized by a benign lesion composed of lobules of spindle shaped or stellate cells and an abundant myxoid or chondroid matrix. The tumor may occur in almost any osseous location but is most common in long bones, in particular the proximal tibia and the distal femur. Pain is the most common presenting symptom. Prognosis is excellent even in cases with local recurrence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chondromyxoid fibroma | |
| fr | Fibrome chondromyxoïde | |
| de | Chondromyxoidfibrom | |
| es | Fibroma condromixoide | |
| it | Fibroma condromixoide | |
| nl | Chondromyxoïd fibroom | |
| pt | Fibroma condromixóide | |
| pl | Włókniak chrzęstno-śluzowaty | |
| cs | Chondromyxoidní fibrom | |
| uk | Хондроміксоїдна фіброма | |
| zh | 软骨粘液样纤维瘤 | |
| tr | Kondromiksoid fibroma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D16.9 | NTBT | attributed | validated |
| ICD-11 | 2E82.Z | NTBT | attributed | validated |
| MONDO | 0018447 | E | validated | |
| UMLS | C0221290 | 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:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRM1 | Part of a fusion gene in | Assessed | HGNC:4593 | ENSG00000152822 | 604473 | 6q24.3 | glutamate metabotropic receptor 1 | 24658000[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 24658000[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24658000[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/404507
- This record as JSON: /data/d/404507.json