MCID: EPT020
MIFTS: 43

Epithelioid Hemangioendothelioma

Categories: Cancer diseases, Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Epithelioid Hemangioendothelioma

MalaCards integrated aliases for Epithelioid Hemangioendothelioma:

Name: Epithelioid Hemangioendothelioma 58 70
Epithelioid Hemangioendothelioma, Malignant 70
Hemangioendothelioma Epithelioid 54

Characteristics:

Orphanet epidemiological data:

58
epithelioid hemangioendothelioma
Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 D018323
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 71 C0206732
Orphanet 58 ORPHA157791
UMLS 70 C0206732 C0334538

Summaries for Epithelioid Hemangioendothelioma

MalaCards based summary : Epithelioid Hemangioendothelioma, also known as epithelioid hemangioendothelioma, malignant, is related to hemangioendothelioma and malignant epithelioid hemangioendothelioma. An important gene associated with Epithelioid Hemangioendothelioma is CAMTA1 (Calmodulin Binding Transcription Activator 1), and among its related pathways/superpathways are Nanog in Mammalian ESC Pluripotency and PI3K-Akt signaling pathway. The drugs Gemcitabine and Trametinib have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and lung, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 73 Epithelioid hemangioendothelioma (eHAE) is a rare tumor, first characterized by Sharon Weiss and Franz... more...

Related Diseases for Epithelioid Hemangioendothelioma

Diseases in the Epithelioid Hemangioendothelioma family:

Malignant Epithelioid Hemangioendothelioma

Diseases related to Epithelioid Hemangioendothelioma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 32.6 WWTR1 CAMTA1
2 malignant epithelioid hemangioendothelioma 32.1 YAP1 WWTR1 TFE3 CAMTA1
3 histiocytoid hemangioma 30.5 YAP1 WWTR1 TFE3 CAMTA1
4 angiosarcoma 30.3 VEGFA KDR FLT1 CAMTA1 CALB2
5 hemangioma 30.2 VEGFA KDR FLT1 ACTC1
6 vascular cancer 29.6 WWTR1 VEGFA TFE3 KDR FLT1 CAMTA1
7 glomus tumor 29.5 CALB2 ACTC1
8 renal cell carcinoma, papillary, 1 29.5 VEGFA TFE3 KDR
9 retinal vascular disease 29.3 VEGFA PGF KDR FLT1
10 meningioma, familial 29.2 VEGFA PGF FLT1 CALB2
11 sarcoma 29.2 VEGFA TFE3 KDR ACTC1
12 renal cell carcinoma, nonpapillary 28.5 VEGFA TFE3 PGF KDR FLT1 CALB2
13 rhabdomyosarcoma 28.5 YAP1 VEGFA KDR FLT1 ACTC1
14 rare tumor 10.9
15 rare vascular tumor 10.9
16 benign mesothelioma 10.5
17 mesothelioma, malignant 10.3
18 cholangiocarcinoma 10.3
19 intrahepatic cholangiocarcinoma 10.3
20 conventional angiosarcoma 10.3
21 portal hypertension 10.3
22 mesenchymal cell neoplasm 10.3
23 epithelioid sarcoma 10.3
24 hypereosinophilic syndrome 10.3
25 rare soft tissue tumor 10.3
26 malignant hemangioma 10.3 WWTR1 CAMTA1
27 virus-associated trichodysplasia spinulosa 10.2
28 lung cancer 10.2
29 budd-chiari syndrome 10.2
30 hepatic veno-occlusive disease 10.2
31 respiratory failure 10.2
32 teratoma 10.2
33 spindle cell hemangioma 10.2
34 malignant mesenchymoma 10.2
35 crohn's disease 10.2
36 pyogenic granuloma 10.2
37 soft tissue sarcoma 10.2
38 splenomegaly 10.2
39 aneurysm 10.2
40 back pain 10.2
41 thyroid carcinoma 10.2
42 neonatal anemia 10.1 PGF FLT1
43 twin-to-twin transfusion syndrome 10.1 PGF FLT1
44 uterus perivascular epithelioid cell tumor 10.1 TFE3 CALB2
45 septate uterus 10.1 KDR FLT1
46 angiokeratoma of mibelli 10.1 KDR FLT1
47 malignant ciliary body melanoma 10.1 KDR FLT1
48 hepatocellular carcinoma 10.1
49 hair whorl 10.1
50 kaposi sarcoma 10.1

Graphical network of the top 20 diseases related to Epithelioid Hemangioendothelioma:



Diseases related to Epithelioid Hemangioendothelioma

Symptoms & Phenotypes for Epithelioid Hemangioendothelioma

MGI Mouse Phenotypes related to Epithelioid Hemangioendothelioma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.87 ACTC1 FLT1 KDR PGF VEGFA WWTR1
2 growth/size/body region MP:0005378 9.81 ACTC1 CAMTA1 FLT1 KDR PGF TFE3
3 embryo MP:0005380 9.73 ACTC1 FLT1 KDR PGF VEGFA YAP1
4 muscle MP:0005369 9.43 ACTC1 FLT1 KDR VEGFA WWTR1 YAP1
5 normal MP:0002873 9.17 ACTC1 CALB2 CAMTA1 FLT1 KDR TFE3

Drugs & Therapeutics for Epithelioid Hemangioendothelioma

Drugs for Epithelioid Hemangioendothelioma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gemcitabine Approved Phase 2 95058-81-4 60750
2
Trametinib Approved Phase 2 871700-17-3 11707110
3 Immunosuppressive Agents Phase 2
4 Anti-Infective Agents Phase 2
5 Antiviral Agents Phase 2
6 Antimetabolites Phase 2
7 Protein Kinase Inhibitors Phase 2
8
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
9
Bevacizumab Approved, Investigational Phase 1 216974-75-3
10 Immunologic Factors Phase 1
11 Antineoplastic Agents, Immunological Phase 1
12 Immunoglobulin G Phase 1
13 Angiogenesis Inhibitors Phase 1
14 Immunoglobulins Phase 1
15 Albumin-Bound Paclitaxel Phase 1
16 Antimitotic Agents Phase 1
17 Mitogens Phase 1
18 Tubulin Modulators Phase 1
19 Endothelial Growth Factors Phase 1
20 Immunoglobulins, Intravenous Phase 1
21 Antibodies Phase 1
22 Antibodies, Monoclonal Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Completed NCT01532687 Phase 2 Gemcitabine;Gemcitabine Hydrochloride;Pazopanib;Pazopanib Hydrochloride
2 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
3 A Non-Randomized, Open-Label, Phase 2 Study of Trametinib in Patients With Unresectable or Metastatic Epithelioid Hemangioendothelioma Recruiting NCT03148275 Phase 2 Trametinib
4 A Pilot Phase 2 Study of Eribulin in Angiosarcoma and Epithelioid Hemangioendothelioma (EHE) Recruiting NCT03331250 Phase 2 Eribulin
5 Targeted Complex Therapy for Advanced Melanoma, Gynecologic Cancers, and Other Malignancies: Nab-Paclitaxel (Abraxane)/Bevacizumab Complex (AB-Complex) Suspended NCT02020707 Phase 1 Nab-paclitaxel
6 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Recruiting NCT03967834

Search NIH Clinical Center for Epithelioid Hemangioendothelioma

Genetic Tests for Epithelioid Hemangioendothelioma

Anatomical Context for Epithelioid Hemangioendothelioma

MalaCards organs/tissues related to Epithelioid Hemangioendothelioma:

40
Liver, Endothelial, Lung, Thyroid, Bone, Heart, Kidney

Publications for Epithelioid Hemangioendothelioma

Articles related to Epithelioid Hemangioendothelioma:

(show top 50) (show all 1115)
# Title Authors PMID Year
1
Interferon alpha-2B and liver resection to treat multifocal hepatic epithelioid hemangioendothelioma: a relevant approach to avoid liver transplantation. 54 61
16387119 2005
2
Epithelioid hemangioendothelioma and other vascular mediastinal tumors: a role for alpha-2a interferon? 54 61
12902133 2003
3
Vascular endothelial growth factor receptor-3 (VEGFR-3): a marker of vascular tumors with presumed lymphatic differentiation, including Kaposi's sarcoma, kaposiform and Dabska-type hemangioendotheliomas, and a subset of angiosarcomas. 61 54
10697276 2000
4
The human hematopoietic progenitor cell antigen (CD34) in vascular neoplasia. 54 61
1712541 1991
5
Hepatic vascular malignancies in children are associated with increased rates of surgical resection and improved overall survival compared with adults. 61
33661569 2021
6
Primary splenic epithelioid hemangioendothelioma with diffuse metastases revealed by FDG PET/CT imaging: A case report. 61
33787588 2021
7
WWTR1(TAZ)-CAMTA1 reprograms endothelial cells to drive epithelioid hemangioendothelioma. 61
33766984 2021
8
Epithelioid Hemangioendothelioma of the Superior Vena Cava Diagnosed With EBUS-TBNA. 61
33781573 2021
9
WWTR1(TAZ)-CAMTA1 gene fusion is sufficient to dysregulate YAP/TAZ signaling and drive epithelioid hemangioendothelioma tumorigenesis. 61
33766982 2021
10
Post-resection prognosis of patients with hepatic epithelioid hemangioendothelioma. 61
33748027 2021
11
Femoral epithelioid hemangioendothelioma detected with magnetic resonance imaging and positron emission tomography/computed tomography: A case report. 61
33644202 2021
12
Epithelioid hemangioendothelioma (EHE) involving pleural effusion. 61
32749764 2021
13
Activity of sirolimus in patients with progressive epithelioid hemangioendothelioma: A case-series analysis within the Italian Rare Cancer Network. 61
33107985 2021
14
Sirolimus for patients with progressive epithelioid hemangioendothelioma. 61
33107994 2021
15
Primary Bone Marrow Epithelioid Hemangioendothelioma Treated With Gemcitabine and Docetaxel. 61
32991259 2021
16
Case of epithelioid hemangioendothelioma occurring in the postradiation setting for breast cancer. 61
33125182 2021
17
"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports. 61
33585634 2021
18
Liver Transplantation in a Patient With Hepatic Angiosarcoma. 61
33585099 2021
19
Epithelioid hemangioendothelioma: a rare cause of a liver tumor. 61
33207899 2021
20
Hepatic Epithelioid Hemangioendothelioma Presenting Synchronously with Hepatocellular Carcinoma. 61
33790724 2021
21
Epithelioid hemangioma of bone harboring FOS and FOSB gene rearrangements: A clinicopathologic and molecular study. 61
33034932 2021
22
A rare cardiac tumor presenting with myxoma: Primary cardiac hemangioendothelioma. 61
33768989 2021
23
Cytologic features and immunohistochemical findings of epithelioid hemangioendothelioma (EHE) in effusion: A case series. 61
32797671 2021
24
Clinicopathologic Characterization of Epithelioid Hemangioendothelioma in a Series of 62 Cases: A Proposal of Risk Stratification and Identification of a Synaptophysin-positive Aggressive Subset. 61
33729740 2021
25
Hepatic Epithelioid Hemangioendothelioma Diagnosed by Gd-EOB-DTPA-Enhanced MR. 61
33449312 2021
26
Resection of a Giant Epithelioid Hemangioendothelioma Arising from the Superior Vena Cava. 61
33529605 2021
27
Epithelioid Hemangioendothelioma and Epithelioid Hemangioma: Pazopanib as a Potential Salvage Therapy. 61
33776722 2021
28
Epithelioid hemangioendothelioma of the right atrium invaded the superior vena cava: case report and review of literature. 61
32812146 2021
29
Aberrant keratin expression is common in primary hepatic malignant vascular tumors: A potential diagnostic pitfall. 61
32947230 2020
30
[Often misdiagnosed primary pleural epithelioid hemangioendothelioma: a clinicopathological analysis of five cases]. 61
33287515 2020
31
Epithelioid hemangioendothelioma of spine: A case report with review of literatures. 61
33117468 2020
32
A Review of the Spectrum of Imaging Manifestations of Epithelioid Hemangioendothelioma. 61
32841059 2020
33
Epithelioid Hemangioendothelioma of the Lower Limb, Discovered by a Claudication. 61
33227473 2020
34
Unusual Primary Neoplasms of the Adult Liver: Review of Imaging Appearances and Differential Diagnosis. 61
33199074 2020
35
Maxillary epithelioid hemangioendothelioma: an especially rare malignant tumor mimicking periodontal disease. 61
33158420 2020
36
A Retrospective Review of the Use of Sirolimus for Pediatric Patients With Epithelioid Hemangioendothelioma. 61
31714437 2020
37
Imaging characteristics and prognostic values of hepatic epithelioid hemangioendothelioma on 18F-FDG PET/CT. 61
32797371 2020
38
Primary cutaneous epithelioid hemangioendothelioma with lymph node metastasis. 61
33134451 2020
39
Hepatic epithelioid hemangioendothelioma: a rare vascular tumor with unpredictable diagnosis. 61
33222478 2020
40
Laparoscopic repeat liver resection for hepatic epithelioid hemangioendothelioma. 61
33001327 2020
41
VEGF-VEGFR pathway seems to be the best target in hepatic epithelioid hemangioendothelioma: A case series with review of the literature. 61
32201052 2020
42
Hepatic Epithelioid Hemangioendothelioma: A Rare Disease With Favorable Outcomes After Liver Transplantation. 61
32217012 2020
43
Composite Hemangioendothelioma With Neuroendocrine Marker Expression: Report of a "Paraganglioma-Like" Paravertebral Case. 61
32418470 2020
44
Rapidly Progressive Atypical Vertebral Hemangioma: A Case Report. 61
33163444 2020
45
Laparoscopic resection of hepatic epithelioid hemangioendothelioma: report of eleven rare cases and literature review. 61
33121478 2020
46
Hepatic epithelioid hemangioendothelioma: An international multicenter study. 61
32535084 2020
47
Primary Vascular Tumors of Bone: A Monoinstitutional Morphologic and Molecular Analysis of 427 Cases With Emphasis on Epithelioid Variants. 61
32271190 2020
48
F18-fluorodeoxyglucose positron emission tomography/computed tomography in the evaluation of vertebral vascular tumors. 61
32353715 2020
49
Epithelioid hemangioendothelioma of the lung: CT findings and clinical course of 35 cases. 61
32607550 2020
50
Hepatic epithelioid hemangioendothelioma: Update on diagnosis and therapy. 61
33024754 2020

Variations for Epithelioid Hemangioendothelioma

Expression for Epithelioid Hemangioendothelioma

Search GEO for disease gene expression data for Epithelioid Hemangioendothelioma.

Pathways for Epithelioid Hemangioendothelioma

Pathways related to Epithelioid Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 YAP1 VEGFA PGF KDR FLT1
2
Show member pathways
12.73 VEGFA PGF KDR FLT1
3
Show member pathways
12.62 VEGFA PGF KDR FLT1
4 12.44 VEGFA PGF KDR FLT1
5
Show member pathways
12.4 VEGFA PGF KDR FLT1
6
Show member pathways
12.16 VEGFA KDR FLT1
7 12.15 VEGFA KDR FLT1
8
Show member pathways
12.09 VEGFA KDR FLT1
9
Show member pathways
12.08 VEGFA PGF KDR FLT1
10 11.73 YAP1 WWTR1 KDR FLT1
11
Show member pathways
11.67 VEGFA KDR FLT1
12 11.43 VEGFA KDR FLT1
13
Show member pathways
11.22 VEGFA PGF KDR FLT1
14 11.18 VEGFA KDR FLT1
15 11.14 VEGFA KDR
16
Show member pathways
11.11 KDR FLT1
17 11.03 VEGFA KDR FLT1
18 11.02 YAP1 WWTR1
19 10.95 VEGFA FLT1
20 10.82 YAP1 WWTR1
21 10.71 VEGFA KDR FLT1
22
Show member pathways
10.13 VEGFA PGF KDR FLT1

GO Terms for Epithelioid Hemangioendothelioma

Cellular components related to Epithelioid Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.28 YAP1 WWTR1 VEGFA TFE3 KDR FLT1

Biological processes related to Epithelioid Hemangioendothelioma according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.82 VEGFA KDR FLT1
2 positive regulation of protein phosphorylation GO:0001934 9.79 VEGFA PGF KDR
3 angiogenesis GO:0001525 9.76 VEGFA PGF KDR FLT1
4 positive regulation of MAPK cascade GO:0043410 9.74 VEGFA KDR FLT1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.72 VEGFA KDR FLT1
6 positive regulation of endothelial cell proliferation GO:0001938 9.7 VEGFA PGF KDR
7 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.64 VEGFA KDR
8 positive regulation of protein localization to nucleus GO:1900182 9.63 YAP1 WWTR1
9 sprouting angiogenesis GO:0002040 9.63 VEGFA PGF
10 positive regulation of cell proliferation GO:0008284 9.63 YAP1 WWTR1 VEGFA PGF KDR FLT1
11 regulation of canonical Wnt signaling pathway GO:0060828 9.62 YAP1 WWTR1
12 branching involved in blood vessel morphogenesis GO:0001569 9.62 VEGFA KDR
13 hippo signaling GO:0035329 9.61 YAP1 WWTR1
14 vasculogenesis GO:0001570 9.61 YAP1 VEGFA KDR
15 positive regulation of focal adhesion assembly GO:0051894 9.6 VEGFA KDR
16 tissue homeostasis GO:0001894 9.59 YAP1 WWTR1
17 cell migration involved in sprouting angiogenesis GO:0002042 9.58 VEGFA KDR
18 induction of positive chemotaxis GO:0050930 9.58 VEGFA PGF
19 positive regulation of positive chemotaxis GO:0050927 9.56 VEGFA KDR
20 positive regulation of angiogenesis GO:0045766 9.56 VEGFA PGF KDR FLT1
21 vascular wound healing GO:0061042 9.54 VEGFA KDR
22 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.51 YAP1 WWTR1
23 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.5 VEGFA KDR FLT1
24 positive regulation of mast cell chemotaxis GO:0060754 9.49 VEGFA PGF
25 heart process GO:0003015 9.48 YAP1 WWTR1
26 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.4 VEGFA KDR
27 vascular endothelial growth factor receptor-2 signaling pathway GO:0036324 9.37 VEGFA KDR
28 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.26 VEGFA PGF KDR FLT1
29 vascular endothelial growth factor signaling pathway GO:0038084 8.92 VEGFA PGF KDR FLT1

Molecular functions related to Epithelioid Hemangioendothelioma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemoattractant activity GO:0042056 9.16 VEGFA PGF
2 vascular endothelial growth factor-activated receptor activity GO:0005021 8.96 KDR FLT1
3 vascular endothelial growth factor receptor binding GO:0005172 8.62 VEGFA PGF

Sources for Epithelioid Hemangioendothelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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