ORPHA:213711
Endometrial stromal sarcoma
Synonyms: Stromal sarcoma of the corpus uteri
- Type
- Disease
- Group
- Disorder
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Endometrial stromal sarcoma | Stromal sarcoma of the corpus uteri |
| fr | Sarcome stromal de l'endomètre | Sarcome stromal du corps de l'utérus |
| de | Stromasarkom des Corpus uteri | Stromasarkom, endometriales |
| es | Sarcoma del estroma endometrial | Sarcoma estromal de cuerpo de útero |
| it | Sarcoma stromale dell'endometrio | Sarcoma stromale del corpo uterino |
| nl | Endometriaal stromaal sarcoom | Stromaal sarcoom van baarmoederlichaam · Stromaal sarcoom van corpus uteri · Stromaal sarcoom van endometrium |
| pt | Sarcoma do estroma do endométrio | |
| pl | Mięsak podścieliskowy endometrium | Mięsak podścieliskowy trzonu macicy |
| cs | Endometriální stromální sarkom | Stromální sarkom těla děložního |
| uk | Стромальна саркома ендометрія | Стромальна саркома тіла матки |
| zh | 子宫内膜间质肉瘤 | 子宫体间质肉瘤 |
| tr | Endometrial stromal sarkom | Korpus uteri'nin stromal sarkomu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C54.1 | BTNT | attributed | validated |
| ICD-11 | 2B5C | E | specific | validated |
| MONDO | 0006745 | E | validated | |
| MeSH | D018203 | E | validated | |
| UMLS | C0206630 | E | validated | |
| GARD | 6339 | E | validated | |
| MedDRA | 10048397 | 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 (1):
- ORPHA:213569Rare cancer of corpus uteri
rare neoplastic diseases; rare gynecological and obstetric diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| JAZF1 | Part of a fusion gene in | Assessed | HGNC:28917 | ENSG00000153814 | 606246 | 7p15.2-p15.1 | JAZF zinc finger 1 | 25299308[PMID] |
| NUTM2A | Part of a fusion gene in | Assessed | HGNC:23438 | ENSG00000184923 | 10q23.2 | NUT family member 2A | 25299308[PMID]_22223660[PMID] | |
| NUTM2B | Part of a fusion gene in | Assessed | HGNC:23445 | ENSG00000188199 | 10q22.3 | NUT family member 2B | 25299308[PMID]_22223660[PMID] | |
| SUZ12 | Part of a fusion gene in | Assessed | HGNC:17101 | ENSG00000178691 | 606245 | 17q11.2 | SUZ12 polycomb repressive complex 2 subunit | 25299308[PMID] |
| YWHAE | Part of a fusion gene in | Assessed | HGNC:12851 | ENSG00000108953 | 605066 | 17p13.3 | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | 25299308[PMID]_22223660[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/213711
- This record as JSON: /data/d/213711.json