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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   epithelioid hemangioendothelioma
  

Disease ID 1534
Disease epithelioid hemangioendothelioma
Definition
A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have "borderline" aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992)
Synonym
[m] epithelioid haemangioendothelioma nos
[m] epithelioid hemangioendothelioma nos
[m] epithelioid hemangioendothelioma nos (morphologic abnormality)
epithelioid angioendothelioma
epithelioid angiosarcoma
epithelioid haemangioendothelioma
epithelioid hemangioendothelioma (disorder)
epithelioid hemangioendothelioma (morphologic abnormality)
epithelioid hemangioendothelioma, nos
epithelioid hemangioendotheliomas
hemangioendothelioma, epithelioid
hemangioendothelioma, epithelioid [disease/finding]
hemangioendotheliomas, epithelioid
Orphanet
UMLS
C0206732
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:8)
C0153676  |  lung metastases  |  2
C0019158  |  hepatitis  |  1
C0019196  |  hepatitis c  |  1
C0151740  |  intracranial hypertension  |  1
C0022739  |  klippel-trenaunay-weber syndrome  |  1
C0010346  |  crohn's disease  |  1
C0205696  |  anaplastic carcinoma  |  1
C0018801  |  heart failure  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:5)
25937  |  WWTR1  |  ORPHANET
3440  |  IFNA2  |  CTD_human
10413  |  YAP1  |  ORPHANET
23261  |  CAMTA1  |  ORPHANET
7030  |  TFE3  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:4)
YAP1  |  11q22.1
TFE3  |  Xp11.23
CAMTA1  |  1p36.31-p36.23
WWTR1  |  3q25.1
Disease ID 1534
Disease epithelioid hemangioendothelioma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:14)
HP:0012531  |  Pain  |  2
HP:0002664  |  Neoplasia  |  1
HP:0002516  |  Intracranial pressure elevation  |  1
HP:0100742  |  Vascular neoplasm  |  1
HP:0030731  |  Carcinoma  |  1
HP:0001297  |  Cerebral vascular events  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0002202  |  Pleural effusion  |  1
HP:0100544  |  Heart tumor  |  1
HP:0002140  |  Ischemic stroke  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0200058  |  Angiosarcoma  |  1
HP:0012115  |  Liver inflammation  |  1
Disease ID 1534
Disease epithelioid hemangioendothelioma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:1)
C0178703  |  hypertrophic osteoarthropathy
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1534
Disease epithelioid hemangioendothelioma
Case(Waiting for update.)