ORPHA:675396
Epithelioid hemangioma
Synonyms: ALHE · Angiolymphoid hyperplasia with eosinophilia · EH · Epithelioid haemangioma
- 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 | Epithelioid hemangioma | ALHE · Angiolymphoid hyperplasia with eosinophilia · EH · Epithelioid haemangioma |
| fr | Hémangiome épithélioïde | HALE · Hyperplasie angiolymphoïde avec éosinophilie |
| de | Hämangiom, epithelioides | ALHE · Angiolymphoide Hyperplasie mit Eosinophilie · EH |
| es | Hemangioma epitelioide | ALHE · Hiperplasia angiolinfoide con eosinofilia |
| it | Emangioma epitelioide | ALHE · EH · Iperplasia angiolinfoide con eosinofilia |
| nl | Epitheloïd hemangioom | ALHE · Angiolymfoïde hyperplasie met eosinofilie · EH |
| pt | Hemangioma epitelioide | ALHE · EH · Hiperplasia angiolinfóide com eosinofilia |
| pl | Naczyniak epitelioidalny | = en |
| cs | Epiteloidní hemangiom | = en |
| uk | Епітеліоїдна гемангіома | ALHE · Ангіолімфоїдна гіперплазія з еозинофілією · EH |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D18.0 | NTBT | inclusion | validated |
| ICD-11 | 2E81.0Z | NTBT | attributed | validated |
| ICD-11 | XH10T4 | E | specific | validated |
| MONDO | 21169 | 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:673470Benign 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
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOS | Part of a fusion gene in | Assessed | HGNC:3796 | ENSG00000170345 | 164810 | 14q24.3 | Fos proto-oncogene, AP-1 transcription factor subunit | 33034932[PMID] |
| FOSB | Part of a fusion gene in | Assessed | HGNC:3797 | ENSG00000125740 | 164772 | 19q13.32 | FosB proto-oncogene, AP-1 transcription factor subunit | 25043949[PMID] |
| LMNA | Part of a fusion gene in | Assessed | HGNC:6636 | ENSG00000160789 | 150330 | 1q22 | lamin A/C | 33034932[PMID] |
| VIM | Part of a fusion gene in | Assessed | HGNC:12692 | ENSG00000026025 | 193060 | 10p13 | vimentin | 26135557[PMID] |
| ZFP36L2 | Part of a fusion gene in | Assessed | HGNC:1108 | ENSG00000152518 | 612053 | 2p21 | ZFP36 like 2 zinc finger CCCH-type | 25043949[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/675396
- This record as JSON: /data/d/675396.json