ORPHA:99967
Myxoid/round cell liposarcoma
Synonyms: MRCLS
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Myxoid/round cell liposarcoma (MRCLS) is a type of liposarcoma (LS) mostly located in the limbs, with a variable behavior depending on the histological subtype. Both myxoid and round cell are distinct histological subtypes of LS.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Myxoid/round cell liposarcoma | MRCLS |
| fr | Liposarcome myxoïde/à cellules rondes | = en |
| de | Liposarkom, myxoides/rundzelliges | = en |
| es | Liposarcoma mixoide/de células redondas | = en |
| it | Liposarcoma mixoide/a cellule rotonde | = en |
| nl | Myxoïd/rondcellig liposarcoom | = en |
| pt | Lipossarcoma mixóide | |
| pl | Tłuszczakomięsak śluzowaty/okrągłokomórkowy | = en |
| cs | Myxoidní liposarkom | = en |
| uk | Міксоїдна/круглоклітинна ліпосаркома | = en |
| zh | 黏液样/圆形细胞脂肪肉瘤 | = en |
| tr | Miksoid / yuvarlak hücreli liposarkom | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613488 | BTNT | validated | |
| ICD-10 | C49.9 | NTBT | index | validated |
| MONDO | 0020561 | E | validated | |
| MeSH | D018208 | E | validated | |
| UMLS | C0206634 | 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:69078Liposarcoma
rare neoplastic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDIT3 | Part of a fusion gene in | Assessed | HGNC:2726 | ENSG00000175197 | 126337 | 12q13.3 | DNA damage inducible transcript 3 | |
| FUS | Part of a fusion gene in | Assessed | HGNC:4010 | ENSG00000089280 | 137070 | 16p11.2 | FUS RNA binding protein |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | 22517534[PMID]_[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002579 | Gastrointestinal dysmotility | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99967
- This record as JSON: /data/d/99967.json