ORPHA:2030
Fibrosarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrosarcoma | |
| fr | Fibrosarcome | |
| de | Fibrosarkom | |
| es | Fibrosarcoma | |
| it | Fibrosarcoma | |
| nl | Fibrosarcoom | |
| pt | Fibrossarcoma | |
| pl | Włókniakomięsak | |
| cs | Fibrosarkom | |
| uk | Фібросаркома | |
| zh | 纤维肉瘤 | |
| tr | Fibrosarkom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.9 | NTBT | index | validated |
| MONDO | 0005164 | E | validated | |
| MeSH | D005354 | E | validated | |
| UMLS | C0016057 | E | validated | |
| GARD | 2327 | E | validated | |
| MedDRA | 10016632 | 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 (2):
- ORPHA:223727Bone sarcoma
rare bone diseases; rare neoplastic diseases - ORPHA:3394Soft tissue sarcoma
rare neoplastic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ETV6 | Part of a fusion gene in | Assessed | HGNC:3495 | ENSG00000139083 | 600618 | 12p13.2 | ETS variant transcription factor 6 | |
| NTRK3 | Part of a fusion gene in | Assessed | HGNC:8033 | ENSG00000140538 | 191316 | 15q25.3 | neurotrophic receptor tyrosine kinase 3 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
| 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2030
- This record as JSON: /data/d/2030.json