ORPHA:99970
Dedifferentiated liposarcoma
Synonyms: DDLS
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dedifferentiated liposarcoma | DDLS |
| fr | Liposarcome dédifférencié | = en |
| de | Liposarkom, dedifferenziertes | = en |
| es | Liposarcoma desdiferenciado | = en |
| it | Liposarcoma dedifferenziato | = en |
| nl | Gededifferentieerd liposarcoom | = en |
| pt | Lipossarcoma com perda de diferenciação | |
| pl | Tłuszczakomięsak odróżnicowany | = en |
| cs | Dediferencovaný liposarkom | = en |
| uk | Дедиференційована ліпсаркома | = en |
| zh | 去分化脂肪肉瘤 | = en |
| tr | Dediferansiye liposarkom | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.9 | NTBT | index | validated |
| MONDO | 0020563 | E | validated | |
| UMLS | C0205824 | E | validated | |
| MedDRA | 10073135 | 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
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDK4 | Role in the phenotype of | Assessed | HGNC:1773 | ENSG00000135446 | 123829 | 12q14.1 | cyclin dependent kinase 4 | |
| HMGA2 | Role in the phenotype of | Assessed | HGNC:5009 | ENSG00000149948 | 600698 | 12q14.3 | high mobility group AT-hook 2 | |
| MDM2 | Role in the phenotype of | Assessed | HGNC:6973 | ENSG00000135679 | 164785 | 12q15 | MDM2 proto-oncogene |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.27 / 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99970
- This record as JSON: /data/d/99970.json