ORPHA:31112
Dermatofibrosarcoma protuberans
Synonyms: DFSP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Dermatofibrosarcoma protuberans (DFSP) is a rare infiltrating soft tissue sarcoma, generally of low grade malignancy, arising from the dermis of the skin and characteristically associated with a specific chromosomal translocation t(17;22).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermatofibrosarcoma protuberans | DFSP |
| fr | Dermatofibrosarcome de Darier-Ferrand | = en |
| de | Dermatofibrosarcoma protuberans | |
| es | Dermatofibrosarcoma protuberante | = en |
| it | Dermatofibrosarcoma di Darier-Ferrand | |
| nl | Dermatofibrosarcoma protuberans | = en |
| pt | Dermatofibrossarcoma protuberante | |
| pl | Włókniakomięsak guzowaty | = en |
| cs | Dermatofibrosarcoma protuberans | = en |
| uk | Протуберанцева дерматофібросаркома | = en |
| zh | 隆凸性皮肤纤维肉瘤 | = en |
| tr | Dermatofibrosarkom protuberans | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607907 | E | validated | |
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2B53.Y | NTBT | index | validated |
| MONDO | 0011934 | E | validated | |
| MeSH | C538219 | E | validated | |
| UMLS | C0392784 | E | validated | |
| GARD | 9569 | E | validated | |
| MedDRA | 10057070 | 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 (4):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:271832Genetic soft tissue tumor
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL1A1 | Part of a fusion gene in | Assessed | HGNC:2197 | ENSG00000108821 | 120150 | 17q21.33 | collagen type I alpha 1 chain | |
| PDGFB | Part of a fusion gene in | Assessed | HGNC:8800 | ENSG00000100311 | 190040 | 22q13.1 | platelet derived growth factor subunit B |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Europe | Value and class | Validated | [EXPERT]_European Medicines Agency[OTHER] |
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
8 annotations · validated 2024-01-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010783 | Erythema | |
| HP:0100244 | Fibrosarcoma | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0001072 | Thickened skin | |
| Frequent (79-30%) | ||
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0012531 | Pain | |
| Very rare (<4-1%) | ||
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 30020677[PMID]_30008876[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/31112
- This record as JSON: /data/d/31112.json