Kaposiform hemangioendothelioma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare, locally aggressive, cutaneous or visceral vascular tumor characterized by either superficial lesions presenting as blue-purple infiltrated ill-defined plaques, or deep lesions usually manifesting with coagulation abnormality. They are associated in about 3 out of 4 of cases with potentially lethal thrombocytopenia and consumption coagulopathy (Kasabach-Merritt phenomenon; KMP).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kaposiform hemangioendothelioma | |
| fr | Hémangioendothéliome kaposiforme | |
| de | Hämangioendotheliom, kaposiformes | |
| es | Hemangioendotelioma kaposiforme | |
| it | Emangioendotelioma kaposiforme | |
| nl | Kaposiform hemangio-endothelioom | |
| pt | Hemangio-endotelioma kaposiforme | |
| pl | Hemangioendothelioma typu Kaposiego | |
| cs | Kaposiformní hemangioendoteliom | |
| uk | Капошиформна гемангіоендотеліома | |
| zh | 卡波济型血管内皮瘤 | |
| tr | Kaposiform hemanjioendotelyoma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C49.9 | NTBT | attributed | validated |
| ICD-11 | 2F72.Y | NTBT | index | validated |
| ICD-11 | XH6PA4 | E | specific | validated |
| MONDO | 0016236 | E | validated | |
| MeSH | C537007 | E | validated | |
| UMLS | C1367420 | E | validated | |
| GARD | 3077 | E | validated | |
| MedDRA | 10087551 | 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:673473Borderline vascular tumor
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:71209Rare soft tissue tumor
rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNA14 | Disease-causing somatic mutation(s) in | Assessed | HGNC:4382 | ENSG00000156049 | 604397 | 9q21.2 | G protein subunit alpha 14 | 27476652[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
14 annotations · validated 2025-03-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0005520 | Chronic disseminated intravascular coagulation | |
| HP:0000969 | Edema | |
| HP:0033106 | Elevated circulating D-dimer concentration | |
| HP:0030350 | Erythematous papule | |
| HP:0025474 | Erythematous plaque | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0001004 | Lymphedema | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0012531 | Pain | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0001873 | Thrombocytopenia | |
| Occasional (29-5%) | ||
| HP:0000975 | Hyperhidrosis | |
| HP:0000998 | Hypertrichosis | |
Annotation source: 32014025[PMID]_31353149[PMID]_34106442[PMID]_30085595[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2122
- This record as JSON: /data/d/2122.json