MCID: EPT020
MIFTS: 48

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 60 74
Epithelioid Hemangioendothelioma, Malignant 74
Hemangioendothelioma Epithelioid 56

Characteristics:

Orphanet epidemiological data:

60
epithelioid hemangioendothelioma
Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly;

Classifications:



External Ids:

MESH via Orphanet 46 D018323
ICD10 via Orphanet 35 D18.0
UMLS via Orphanet 75 C0206732
Orphanet 60 ORPHA157791

Summaries for Epithelioid Hemangioendothelioma

MalaCards based summary : Epithelioid Hemangioendothelioma, also known as epithelioid hemangioendothelioma, malignant, is related to malignant epithelioid hemangioendothelioma and 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 Trametinib and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 134)
# Related Disease Score Top Affiliating Genes
1 malignant epithelioid hemangioendothelioma 33.0 CAMTA1 KDR TFE3 WWTR1 YAP1
2 hemangioendothelioma 32.5 CAMTA1 KDR
3 angiosarcoma 30.6 FLT1 KDR VEGFA
4 pyogenic granuloma 30.2 ACTC1 VEGFA
5 hemangioma 30.1 ACTC1 FLT1 KDR VEGFA
6 hemangiopericytoma, malignant 29.9 ACTC1 S100B
7 spindle cell sarcoma 29.8 ACTC1 S100B
8 malignant fibroxanthoma 29.7 ACTC1 S100B
9 neovascular glaucoma 10.3 PGF VEGFA
10 kuhnt-junius degeneration 10.3 PGF VEGFA
11 glomeruloid hemangioma 10.2 FLT1 VEGFA
12 retinal vascular occlusion 10.2 PGF VEGFA
13 mild pre-eclampsia 10.2 FLT1 PGF
14 microcystic meningioma 10.2 FLT1 VEGFA
15 twin-to-twin transfusion syndrome 10.2 FLT1 PGF
16 sarcoma 10.2
17 lipodermatosclerosis 10.2 FLT1 VEGFA
18 radiation proctitis 10.2 KDR VEGFA
19 intravascular papillary endothelial hyperplasia 10.2 ACTC1 VEGFA
20 drug-induced lupus erythematosus 10.2 KDR VEGFA
21 angiomatous meningioma 10.2 KDR VEGFA
22 leukostasis 10.2 KDR VEGFA
23 placental abruption 10.1 FLT1 PGF
24 coats disease 10.1 KDR VEGFA
25 biliary cirrhosis, primary, 1 10.1
26 lung cancer 10.1
27 budd-chiari syndrome 10.1
28 crohn's disease 10.1
29 primary biliary cirrhosis 10.1
30 patulous eustachian tube 10.1
31 adenocarcinoma 10.1
32 teratoma 10.1
33 histiocytoma 10.1
34 rere-related disorders 10.1
35 primary biliary cholangitis 10.1
36 pulmonary vein stenosis 10.1 ACTC1 KDR
37 sarcomatoid squamous cell skin carcinoma 10.1 CAMTA1 TFE3
38 epileptic encephalopathy, childhood-onset 10.1 KDR VEGFA
39 cancer-associated retinopathy 10.1 FLT1 PGF VEGFA
40 juvenile nasopharyngeal angiofibroma 10.1 ACTC1 VEGFA
41 arteries, anomalies of 10.1 FLT1 PGF VEGFA
42 degeneration of macula and posterior pole 10.0 KDR VEGFA
43 limb ischemia 10.0 KDR PGF VEGFA
44 placenta accreta 10.0 FLT1 KDR PGF
45 angiokeratoma circumscriptum 10.0 FLT1 KDR VEGFA
46 skin hemangioma 10.0 FLT1 KDR VEGFA
47 capillary hemangioma 10.0 FLT1 KDR VEGFA
48 corneal neovascularization 10.0 FLT1 KDR VEGFA
49 exudative vitreoretinopathy 1 10.0 FLT1 KDR VEGFA
50 breast cancer 10.0

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



Diseases related to Epithelioid Hemangioendothelioma

Symptoms & Phenotypes for Epithelioid Hemangioendothelioma

GenomeRNAi Phenotypes related to Epithelioid Hemangioendothelioma according to GeneCards Suite gene sharing:

27 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.5 S100B WWTR1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.5 KDR
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 FLT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.5 FLT1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.5 WWTR1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.5 WWTR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.5 FLT1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.5 KDR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.5 S100B
10 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.5 WWTR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 FLT1 KDR S100B WWTR1

MGI Mouse Phenotypes related to Epithelioid Hemangioendothelioma:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 ACTC1 CAMTA1 FLT1 KDR PGF TFE3
2 behavior/neurological MP:0005386 10.02 CAMTA1 FLT1 KDR S100B VEGFA WWTR1
3 homeostasis/metabolism MP:0005376 10.01 ACTC1 FLT1 KDR PGF S100B VEGFA
4 cardiovascular system MP:0005385 10 ACTC1 FLT1 KDR PGF VEGFA WWTR1
5 immune system MP:0005387 9.91 FLT1 KDR PGF TFE3 VEGFA WWTR1
6 mortality/aging MP:0010768 9.86 ACTC1 CAMTA1 FLT1 KDR TFE3 VEGFA
7 integument MP:0010771 9.8 KDR PGF S100B TFE3 VEGFA YAP1
8 muscle MP:0005369 9.63 ACTC1 FLT1 KDR VEGFA WWTR1 YAP1
9 normal MP:0002873 9.5 ACTC1 CAMTA1 FLT1 KDR S100B TFE3
10 respiratory system MP:0005388 9.02 KDR PGF VEGFA WWTR1 YAP1

Drugs & Therapeutics for Epithelioid Hemangioendothelioma

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trametinib Approved Phase 2 871700-17-3 11707110
2
Pembrolizumab Approved Phase 2 1374853-91-4
3
Gemcitabine Approved Phase 2 95058-81-4 60750
4
Durvalumab Approved, Investigational Phase 2 1428935-60-7
5
Tremelimumab Investigational Phase 2 745013-59-6
6 Protein Kinase Inhibitors Phase 2
7 Antineoplastic Agents, Immunological Phase 2
8 Anti-Infective Agents Phase 2
9 Immunologic Factors Phase 2
10 Antiviral Agents Phase 2
11 Immunosuppressive Agents Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Antimetabolites Phase 2
14 Immunoglobulins Phase 2
15 Antibodies Phase 2
16 Antibodies, Monoclonal Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vismodegib and Gamma-Secretase/Notch Signalling Pathway Inhibitor RO4929097 in Treating Patients With Advanced or Metastatic Sarcoma Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
2 Eribulin in Angiosarcoma and Epithelioid Hemangioendothelioma (EHE) Recruiting NCT03331250 Phase 2 Eribulin
3 Trametinib in Treating Patients With Epithelioid Hemangioendothelioma That Is Metastatic, Locally Advanced, or Cannot Be Removed by Surgery Recruiting NCT03148275 Phase 2 Trametinib
4 A Study of Epacadostat, an IDO1 Inhibitor, in Combination With Pembrolizumab in Patients With Metastatic and/or Locally Advanced Sarcoma Recruiting NCT03414229 Phase 2 Epacadostat;Pembrolizumab
5 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
6 Multi-Arm Study to Test the Efficacy of Immunotherapeutic Agents in Multiple Sarcoma Subtypes Active, not recruiting NCT02815995 Phase 2 Durvalumab;Tremelimumab

Search NIH Clinical Center for Epithelioid Hemangioendothelioma

Genetic Tests for Epithelioid Hemangioendothelioma

Anatomical Context for Epithelioid Hemangioendothelioma

MalaCards organs/tissues related to Epithelioid Hemangioendothelioma:

42
Liver, Bone, Lung, Heart, Thyroid, Skin, Breast

Publications for Epithelioid Hemangioendothelioma

Articles related to Epithelioid Hemangioendothelioma:

(show top 50) (show all 636)
# Title Authors Year
1
Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case. ( 30238810 )
2019
2
The "Target sign" and the "Lollipop sign" in hepatic epithelioid hemangioendothelioma. ( 30367214 )
2019
3
Spontaneous rupture of a splenic artery aneurysm with splenic epithelioid hemangioendothelioma: a case report. ( 30614335 )
2019
4
Intrasinusoidal Spread of Hepatic Epithelioid Hemangioendothelioma: Implications for the Diagnosis in Minimal Samples. ( 30664032 )
2019
5
Successful Total Resection of an Orbital Epithelioid Hemangioendothelioma with the Aid of Endovascular Embolization. ( 30675477 )
2019
6
Clinical characteristics of epithelioid hemangioendothelioma: a single-center retrospective study. ( 30819247 )
2019
7
Spontaneous Bilateral Hemothorax as a Case of Epithelioid Hemangioendothelioma (EHE). ( 30918731 )
2019
8
Epithelioid Hemangioendothelioma Arising Within Mediastinal Myelolipoma: A WWTR1-Driven Composite Neoplasm. ( 30942102 )
2019
9
Contrast-enhanced imaging in hepatic epithelioid hemangioendothelioma: retrospective study of 10 patients. ( 30986884 )
2019
10
Extensive epithelioid hemangioendothelioma of the maxillary sinus: A case report. ( 31015076 )
2019
11
18F-fluorodeoxyglucose positron emission tomography/computed tomography in childhood metastatic epithelioid hemangioendothelioma of the liver: Altering the management plan. ( 31040751 )
2019
12
Difficulty of treatment for pleural epithelioid hemangioendothelioma: a report of a case. ( 31049818 )
2019
13
Epithelioid hemangioendothelioma of the bone: A case report with findings of bone scintigraphy. ( 31083212 )
2019
14
Hypoglycemic syndrome in hepatic epithelioid hemangioendothelioma, successful treatment - liver transplantation from a living related donor. ( 31091051 )
2019
15
Case report: A rare presentation of high risk epithelioid hemangioendothelioma on leg treated with surgical excision. ( 31108452 )
2019
16
Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge, and TFE3 gene rearrangement. ( 28855107 )
2018
17
Epithelioid hemangioendothelioma, an uncommon tumor of the eyelid: A case report. ( 29030282 )
2018
18
Hepatic Epithelioid Hemangioendothelioma. ( 29372848 )
2018
19
Hepatic epithelioid hemangioendothelioma: A misdiagnosed rare liver tumor. ( 29373279 )
2018
20
Epithelioid Hemangioendothelioma: Update on Diagnosis and Treatment. ( 29546487 )
2018
21
Massive Epithelioid Hemangioendothelioma Causing Noncirrhotic Portal Hypertension. ( 29609064 )
2018
22
Unicentric epithelioid hemangioendothelioma of the calcaneus: a case report and review of literature. ( 29632658 )
2018
23
Diagnosing Epithelioid Hemangioendothelioma With Pericardial Involvement. ( 29689240 )
2018
24
Hepatic Epithelioid Hemangioendothelioma Presenting as an Enlarging Vascular Lesion within the Spleen. ( 29850364 )
2018
25
Diffuse hepatic epithelioid hemangioendothelioma with multiple splenic metastasis and delayed multifocal bone metastasis after liver transplantation on FDG PET/CT images: A case report. ( 29851777 )
2018
26
Cytologic features, immunocytochemical findings, and DNA ploidy in four rare cases of epithelioid hemangioendothelioma involving effusions. ( 29937917 )
2018
27
Epithelioid Hemangioendothelioma as a Model of YAP/TAZ-Driven Cancer: Insights from a Rare Fusion Sarcoma. ( 29996478 )
2018
28
A Case of Large Meningeal Epithelioid Hemangioendothelioma With WWTR1-CAMTA1 Gene Rearrangement and Slow Growth Over 15 Years. ( 30085199 )
2018
29
CT-guided Biopsy for the Diagnosis of Pulmonary Epithelioid Hemangioendothelioma Mimicking Metastatic Lung Cancer. ( 30101918 )
2018
30
The Feature of Solitary Small Nodular Type of Hepatic Epithelioid Hemangioendothelioma. ( 30186092 )
2018
31
A Case of Vanishing Metastatic Mass: Right Atrial Mass in the Setting of Primary Epithelioid Hemangioendothelioma of the Spine. ( 30186136 )
2018
32
Primary Epithelioid Hemangioendothelioma of the Heart. ( 30219135 )
2018
33
Cutaneous epithelioid hemangioendothelioma: A rare presentation. ( 30289116 )
2018
34
Complete metabolic response to therapy of hepatic epithelioid hemangioendothelioma evaluated with 18F-fluorodeoxyglucose positron emission tomography/contrast-enhanced computed tomography: A CARE case report. ( 30334971 )
2018
35
Clinical characteristics of Japanese patients with epithelioid hemangioendothelioma: a multicenter retrospective study. ( 30340559 )
2018
36
Hepatic epithelioid hemangioendothelioma: A great mimicker. ( 30366173 )
2018
37
Hepatic epithelioid hemangioendothelioma: Challenges in the preoperative diagnosis. ( 30392574 )
2018
38
18F-FDG PET and Bone Scintigraphy of Epithelioid Hemangioendothelioma. ( 30516676 )
2018
39
An Aggressive Large Epithelioid Hemangioendothelioma of the Anterior Mediastinum in a Young Woman. ( 30588454 )
2018
40
Resectable Single Hepatic Epithelioid Hemangioendothelioma in the Left Lobe of the Liver: A Case Report. ( 30886896 )
2018
41
Cutaneous epithelioid hemangioendothelioma treated with Mohs micrographic surgery. ( 27062603 )
2017
42
Epithelioid Hemangioendothelioma Presenting as Inferior Vena Cava Obstruction Diagnosed Using an Endovascular Thrombectomy Device. ( 28012782 )
2017
43
Spontaneous rupture of hepatic epithelioid hemangioendothelioma: A case report. ( 28104995 )
2017
44
Epithelioid hemangioendothelioma of the thyroid: a case report. ( 28132160 )
2017
45
Multifocal Epithelioid Hemangioendothelioma of the Foot and Ankle Developing a Postoperative Infection-Long-term Outcome: A Case Report. ( 28139401 )
2017
46
Hepatic Epithelioid Hemangioendothelioma and Adult Liver Transplantation: Proposal for a Prognostic Score Based on the Analysis of the ELTR-ELITA Registry. ( 28212256 )
2017
47
Epithelioid hemangioendothelioma of right innominate vein mimics a teratoma: A case report. ( 28248868 )
2017
48
Malignant Hepatic Epithelioid Hemangioendothelioma with Villaret Syndrome. ( 28348474 )
2017
49
Magnetic resonance findings of hepatic epithelioid hemangioendothelioma: emphasis on hepatobiliary phase using Gd-EOB-DTPA. ( 28365784 )
2017
50
MicroRNA profile of hepatic epithelioid hemangioendothelioma: A case report. ( 28454305 )
2017

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 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 FLT1 KDR PGF VEGFA YAP1
2
Show member pathways
12.73 FLT1 KDR PGF VEGFA
3
Show member pathways
12.64 FLT1 KDR PGF VEGFA
4 12.45 FLT1 KDR PGF VEGFA
5
Show member pathways
12.4 FLT1 KDR PGF VEGFA
6
Show member pathways
12.27 FLT1 KDR PGF VEGFA
7
Show member pathways
12.15 FLT1 KDR VEGFA
8
Show member pathways
12.04 FLT1 KDR PGF VEGFA
9
Show member pathways
11.99 FLT1 KDR VEGFA
10 11.81 FLT1 KDR VEGFA
11
Show member pathways
11.64 FLT1 KDR VEGFA
12 11.63 FLT1 KDR WWTR1 YAP1
13 11.44 FLT1 KDR VEGFA
14 11.27 KDR VEGFA
15
Show member pathways
11.23 KDR VEGFA
16 11.13 FLT1 KDR VEGFA
17 11.05 WWTR1 YAP1
18 10.98 FLT1 VEGFA
19 10.96 FLT1 KDR VEGFA
20
Show member pathways
10.89 FLT1 KDR PGF VEGFA
21 10.83 WWTR1 YAP1
22 10.82 FLT1 KDR VEGFA
23 10.51 FLT1 KDR VEGFA

GO Terms for Epithelioid Hemangioendothelioma

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 transcription by RNA polymerase II GO:0045944 9.98 CAMTA1 TFE3 VEGFA WWTR1 YAP1
2 positive regulation of cell migration GO:0030335 9.8 FLT1 KDR VEGFA
3 negative regulation of apoptotic process GO:0043066 9.79 ACTC1 KDR VEGFA
4 positive regulation of protein phosphorylation GO:0001934 9.77 KDR PGF VEGFA
5 angiogenesis GO:0001525 9.73 FLT1 KDR PGF VEGFA
6 regulation of cell shape GO:0008360 9.72 KDR S100B VEGFA
7 positive regulation of endothelial cell proliferation GO:0001938 9.69 KDR PGF VEGFA
8 positive chemotaxis GO:0050918 9.64 PGF VEGFA
9 positive regulation of cell division GO:0051781 9.64 PGF VEGFA
10 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.63 KDR VEGFA
11 regulation of canonical Wnt signaling pathway GO:0060828 9.62 WWTR1 YAP1
12 sprouting angiogenesis GO:0002040 9.62 PGF VEGFA
13 hippo signaling GO:0035329 9.61 WWTR1 YAP1
14 positive regulation of focal adhesion assembly GO:0051894 9.6 KDR VEGFA
15 cell migration involved in sprouting angiogenesis GO:0002042 9.58 KDR VEGFA
16 vasculogenesis GO:0001570 9.58 KDR VEGFA YAP1
17 tissue homeostasis GO:0001894 9.57 WWTR1 YAP1
18 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.56 FLT1 VEGFA
19 positive regulation of angiogenesis GO:0045766 9.56 FLT1 KDR PGF VEGFA
20 induction of positive chemotaxis GO:0050930 9.54 PGF VEGFA
21 positive regulation of positive chemotaxis GO:0050927 9.52 KDR VEGFA
22 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.5 FLT1 KDR VEGFA
23 positive regulation of cell proliferation GO:0008284 9.5 FLT1 KDR PGF S100B VEGFA WWTR1
24 positive regulation of mast cell chemotaxis GO:0060754 9.49 PGF VEGFA
25 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.48 WWTR1 YAP1
26 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.46 KDR VEGFA
27 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.46 FLT1 KDR PGF VEGFA
28 heart process GO:0003015 9.37 WWTR1 YAP1
29 vascular endothelial growth factor signaling pathway GO:0038084 8.92 FLT1 KDR PGF VEGFA

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

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 9.16 FLT1 KDR
2 chemoattractant activity GO:0042056 8.96 PGF VEGFA
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.62 FLT1 KDR

Sources for Epithelioid Hemangioendothelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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