Epithelioid hemangioendothelioma
Synonyms: EHE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare vascular tumor characterized by a wide clinical variability ranging from indolent to locally aggressive behavior with a high metastatic potential. The tumor may arise anywhere in the body, most commonly in the lungs, liver and bones. Histologically, it is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma, and molecularly, it is characterized by <i>WWTR1-CAMTA1</i> (approximately 90%) or <i>YAP1-TFE3</i> (approximately 10%) gene fusions. Rarely, other fusion genes are found.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epithelioid hemangioendothelioma | EHE |
| fr | Hémangioendothéliome épithélioïde | = en |
| de | Hämangioendotheliom, epitheloides | = en |
| es | Hemangioendotelioma epitelioide | HEE |
| it | Emangioendotelioma epitelioide | |
| nl | Epithelioïd hemangio-endothelioom | = en |
| pt | Hemangioendotelioma epitelióide | = en |
| pl | Śródbłoniak krwionośny nabłonkowaty | = en |
| cs | Epiteloidní hemangioendoteliom | = en |
| uk | Епітеліоїдна гемангіоендотеліома | |
| zh | 上皮样血管内皮瘤 | |
| tr | Epiteloid hemanjioendotelyoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D48.1 | NTBT | attributed | validated |
| ICD-11 | 2B5Y | NTBT | index | validated |
| ICD-11 | XH9GF8 | E | specific | validated |
| MONDO | 0015523 | E | validated | |
| MeSH | D018323 | E | validated | |
| UMLS | C0206732 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:673466Malignant vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:459543Rare genetic vascular tumor
rare genetic diseases
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAMTA1 | Part of a fusion gene in | Assessed | HGNC:18806 | ENSG00000171735 | 611501 | 1p36.31-p36.23 | calmodulin binding transcription activator 1 | 24986479[PMID] |
| TFE3 | Part of a fusion gene in | Assessed | HGNC:11752 | ENSG00000068323 | 314310 | Xp11.23 | transcription factor binding to IGHM enhancer 3 | 24986479[PMID] |
| WWTR1 | Part of a fusion gene in | Assessed | HGNC:24042 | ENSG00000018408 | 607392 | 3q25.1 | WW domain containing transcription regulator 1 | 24986479[PMID] |
| YAP1 | Part of a fusion gene in | Assessed | HGNC:16262 | ENSG00000137693 | 606608 | 11q22.1 | Yes1 associated transcriptional regulator | 24986479[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34090171[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157791
- This record as JSON: /data/d/157791.json