ORPHA:673556
Pseudomyogenic hemangioendothelioma
Synonyms: Epithelioid sarcoma-like haemangioendothelioma · Fibroma-like variant of epithelioid sarcoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudomyogenic hemangioendothelioma | Epithelioid sarcoma-like haemangioendothelioma · Fibroma-like variant of epithelioid sarcoma |
| fr | Hémangioendothéliome pseudo-myogénique | Hémangioendothéliome épithélioïde · Sarcome épithélioïde |
| de | Hämangioendotheliom, pseudomyogenes | Epitheloidzellsarkom-ähnliches Hämangioendotheliom · Fibromartige Variante des epithelioiden Sarkoms |
| es | Hemangioendotelioma pseudomiogénico | Hemangioendotelioma similar al sarcoma epitelioide · Variante similar al fibroma del sarcoma epitelioide |
| it | Emangioendotelioma pseudomiogenico | |
| nl | Pseudomyogeen hemangio-endothelioom | |
| pt | Hemangioendotelioma pseudomiogénico | Hemangioendotelioma epitelioide sarcoma-like · Variante fibroma-like de sarcoma epitelioide |
| pl | Pseudomyogenic hemangioendothelioma | = en |
| cs | Pseudomyogenní hemangioendoteliom | = en |
| uk | Псевдоміогенна гемангіоендотеліома |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D48.5 | NTBT | attributed | validated |
| ICD-11 | 2F72.Y | NTBT | index | validated |
| ICD-11 | XH26F6 | E | specific | validated |
| MONDO | 975754 | E | validated | |
| UMLS | C3840252 | 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:673473Borderline vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:459543Rare genetic vascular tumor
rare genetic diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTB | Part of a fusion gene in | Assessed | HGNC:132 | ENSG00000075624 | 102630 | 7p22.1 | actin beta | 36803395[PMID] |
| FOSB | Part of a fusion gene in | Assessed | HGNC:3797 | ENSG00000125740 | 164772 | 19q13.32 | FosB proto-oncogene, AP-1 transcription factor subunit | 36803395[PMID] |
| SERPINE1 | Part of a fusion gene in | Assessed | HGNC:8583 | ENSG00000106366 | 173360 | 7q22.1 | serpin family E member 1 | 36803395[PMID] |
| WWTR1 | Part of a fusion gene in | Assessed | HGNC:24042 | ENSG00000018408 | 607392 | 3q25.1 | WW domain containing transcription regulator 1 | 36803395[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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/673556
- This record as JSON: /data/d/673556.json