MCID: EPT020
MIFTS: 50

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 Signaling by GPCR and Nanog in Mammalian ESC Pluripotency. The drugs Trametinib and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and heart, and related phenotypes are behavior/neurological and growth/size/body region

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 115)
# Related Disease Score Top Affiliating Genes
1 malignant epithelioid hemangioendothelioma 33.0 CAMTA1 KDR TFE3 WWTR1 YAP1
2 hemangioendothelioma 32.5 CAMTA1 KDR
3 hemangioma 30.5 FLT1 KDR VEGFA
4 angiosarcoma 30.5 FLT1 KDR VEGFA
5 neovascular glaucoma 10.2 PGF VEGFA
6 kuhnt-junius degeneration 10.2 PGF VEGFA
7 retinal vascular occlusion 10.2 PGF VEGFA
8 sarcoma 10.2
9 radiation proctitis 10.2 KDR VEGFA
10 mild pre-eclampsia 10.2 FLT1 PGF
11 glomeruloid hemangioma 10.2 FLT1 VEGFA
12 twin-to-twin transfusion syndrome 10.2 FLT1 PGF
13 microcystic meningioma 10.2 FLT1 VEGFA
14 drug-induced lupus erythematosus 10.2 KDR VEGFA
15 leukostasis 10.2 KDR VEGFA
16 lipodermatosclerosis 10.2 FLT1 VEGFA
17 lymphangioma 10.2 KDR VEGFA
18 coats disease 10.1 KDR VEGFA
19 biliary cirrhosis, primary, 1 10.1
20 lung cancer 10.1
21 budd-chiari syndrome 10.1
22 crohn's disease 10.1
23 primary biliary cirrhosis 10.1
24 adenocarcinoma 10.1
25 teratoma 10.1
26 histiocytoma 10.1
27 rere-related disorders 10.1
28 primary biliary cholangitis 10.1
29 placental abruption 10.1 FLT1 PGF
30 sarcomatoid squamous cell skin carcinoma 10.1 CAMTA1 TFE3
31 epileptic encephalopathy, childhood-onset 10.1 KDR VEGFA
32 acute mountain sickness 10.1 FLT1 VEGFA
33 degeneration of macula and posterior pole 10.1 KDR VEGFA
34 limb ischemia 10.0 KDR PGF VEGFA
35 cancer-associated retinopathy 10.0 FLT1 PGF VEGFA
36 arteries, anomalies of 10.0 FLT1 PGF VEGFA
37 placenta accreta 10.0 FLT1 KDR PGF
38 angiokeratoma circumscriptum 10.0 FLT1 KDR VEGFA
39 skin hemangioma 10.0 FLT1 KDR VEGFA
40 capillary hemangioma 10.0 FLT1 KDR VEGFA
41 pancreatic serous cystadenoma 10.0 PGR VEGFA
42 breast cancer 10.0
43 hepatocellular carcinoma 10.0
44 temporal arteritis 10.0
45 hemangiopericytoma, malignant 10.0
46 myelofibrosis 10.0
47 ovarian germ cell cancer 10.0
48 reflex sympathetic dystrophy 10.0
49 lymphangioleiomyomatosis 10.0
50 congestive heart failure 10.0

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:

47 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 CAMTA1 CAV1 FLT1 KDR PGR VEGFA
2 growth/size/body region MP:0005378 10.16 CAMTA1 CAV1 FLT1 KDR PGF TFE3
3 cardiovascular system MP:0005385 10.15 CAV1 FLT1 KDR PGF PGR VEGFA
4 immune system MP:0005387 10.13 CAV1 FLT1 KDR PGF PGR TFE3
5 homeostasis/metabolism MP:0005376 10.1 CAV1 FLT1 KDR PGF PGR VEGFA
6 cellular MP:0005384 10.08 CAV1 FLT1 KDR PGR VEGFA WWTR1
7 mortality/aging MP:0010768 10.06 CAMTA1 CAV1 FLT1 KDR PGR TFE3
8 embryo MP:0005380 10 FLT1 KDR PGF PGR VEGFA YAP1
9 integument MP:0010771 10 CAV1 KDR PGF PGR TFE3 VEGFA
10 muscle MP:0005369 9.91 CAV1 FLT1 KDR PGR VEGFA WWTR1
11 liver/biliary system MP:0005370 9.83 CAV1 KDR VEGFA WWTR1 YAP1
12 neoplasm MP:0002006 9.8 CAMTA1 CAV1 PGF PGR VEGFA YAP1
13 normal MP:0002873 9.73 CAMTA1 FLT1 KDR PGR TFE3 VEGFA
14 reproductive system MP:0005389 9.63 CAMTA1 CAV1 FLT1 PGR VEGFA WWTR1
15 respiratory system MP:0005388 9.43 CAV1 KDR PGF VEGFA WWTR1 YAP1
16 skeleton MP:0005390 9.1 CAV1 KDR PGR TFE3 VEGFA WWTR1

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 Antimetabolites Phase 2
10 Immunosuppressive Agents Phase 2
11 Antiviral Agents Phase 2
12 Antimetabolites, Antineoplastic Phase 2
13 Immunologic Factors Phase 2
14 Antibodies Phase 2
15 Immunoglobulins 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
Bone, Liver, Heart, Lymph Node, Testes, Thyroid, Skin

Publications for Epithelioid Hemangioendothelioma

Articles related to Epithelioid Hemangioendothelioma:

(show top 50) (show all 627)
# Title Authors Year
1
Spontaneous rupture of a splenic artery aneurysm with splenic epithelioid hemangioendothelioma: a case report. ( 30614335 )
2019
2
Intrasinusoidal Spread of Hepatic Epithelioid Hemangioendothelioma: Implications for the Diagnosis in Minimal Samples. ( 30664032 )
2019
3
Successful Total Resection of an Orbital Epithelioid Hemangioendothelioma with the Aid of Endovascular Embolization. ( 30675477 )
2019
4
Clinical characteristics of epithelioid hemangioendothelioma: a single-center retrospective study. ( 30819247 )
2019
5
Unicentric epithelioid hemangioendothelioma of the calcaneus: a case report and review of literature. ( 29632658 )
2018
6
Cytologic features, immunocytochemical findings, and DNA ploidy in four rare cases of epithelioid hemangioendothelioma involving effusions. ( 29937917 )
2018
7
Diagnosing Epithelioid Hemangioendothelioma with Pericardial Involvement. ( 29689240 )
2018
8
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
9
Massive Epithelioid Hemangioendothelioma Causing Noncirrhotic Portal Hypertension. ( 29609064 )
2018
10
Hepatic Epithelioid Hemangioendothelioma. ( 29372848 )
2018
11
Hepatic epithelioid hemangioendothelioma: A misdiagnosed rare liver tumor. ( 29373279 )
2018
12
Hepatic Epithelioid Hemangioendothelioma Presenting as an Enlarging Vascular Lesion within the Spleen. ( 29850364 )
2018
13
Epithelioid Hemangioendothelioma: Update on Diagnosis and Treatment. ( 29546487 )
2018
14
Epithelioid hemangioendothelioma, an uncommon tumor of the eyelid: A case report. ( 29030282 )
2018
15
Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case. ( 30238810 )
2018
16
Cutaneous epithelioid hemangioendothelioma: A rare presentation. ( 30289116 )
2018
17
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
18
Clinical characteristics of Japanese patients with epithelioid hemangioendothelioma: a multicenter retrospective study. ( 30340559 )
2018
19
Hepatic epithelioid hemangioendothelioma: A great mimicker. ( 30366173 )
2018
20
The "Target sign" and the "Lollipop sign" in hepatic epithelioid hemangioendothelioma. ( 30367214 )
2018
21
Hepatic epithelioid hemangioendothelioma: Challenges in the preoperative diagnosis. ( 30392574 )
2018
22
18F-FDG PET and Bone Scintigraphy of Epithelioid Hemangioendothelioma. ( 30516676 )
2018
23
An Aggressive Large Epithelioid Hemangioendothelioma of the Anterior Mediastinum in a Young Woman. ( 30588454 )
2018
24
Resectable Single Hepatic Epithelioid Hemangioendothelioma in the Left Lobe of the Liver: A Case Report. ( 30886896 )
2018
25
Epithelioid Hemangioendothelioma as a Model of YAP/TAZ-Driven Cancer: Insights from a Rare Fusion Sarcoma. ( 29996478 )
2018
26
A Case of Large Meningeal Epithelioid Hemangioendothelioma With WWTR1-CAMTA1 Gene Rearrangement and Slow Growth Over 15 Years. ( 30085199 )
2018
27
CT-guided Biopsy for the Diagnosis of Pulmonary Epithelioid Hemangioendothelioma Mimicking Metastatic Lung Cancer: A Case Report. ( 30101918 )
2018
28
The Feature of Solitary Small Nodular Type of Hepatic Epithelioid Hemangioendothelioma. ( 30186092 )
2018
29
A Case of Vanishing Metastatic Mass: Right Atrial Mass in the Setting of Primary Epithelioid Hemangioendothelioma of the Spine. ( 30186136 )
2018
30
Primary Epithelioid Hemangioendothelioma of the Heart. ( 30219135 )
2018
31
Intravascular epithelioid hemangioendothelioma of the femoral vein diagnosed by contrast-enhanced ultrasonography: A care-compliant case report. ( 29245342 )
2017
32
18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma. ( 28680215 )
2017
33
Primary epithelioid hemangioendothelioma of the dorsal spine: A review. ( 28879934 )
2017
34
New Insights about Pulmonary Epithelioid Hemangioendothelioma: Review of the Literature and Two Case Reports. ( 28884037 )
2017
35
Pulmonary epithelioid hemangioendothelioma imitating lung cancer. ( 29181052 )
2017
36
Epithelioid hemangioendothelioma of the craniocervical junction; case report and review. ( 28478911 )
2017
37
Malignant Hepatic Epithelioid Hemangioendothelioma with Villaret Syndrome. ( 28348474 )
2017
38
An Epithelioid Hemangioendothelioma of the Head and Neck. ( 28834832 )
2017
39
Cutaneous epithelioid hemangioendothelioma on the sole mimicking a pyogenic granuloma. ( 28664615 )
2017
40
Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge and TFE3 gene rearrangement. ( 28855107 )
2017
41
The clinical features of epithelioid hemangioendothelioma in a Han Chinese population: A retrospective analysis. ( 28658152 )
2017
42
Magnetic resonance findings of hepatic epithelioid hemangioendothelioma: emphasis on hepatobiliary phase using Gd-EOB-DTPA. ( 28365784 )
2017
43
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Metastasizing Epithelioid Hemangioendothelioma: Comparison With 18F-FDG. ( 28872546 )
2017
44
MicroRNA profile of hepatic epithelioid hemangioendothelioma: A case report. ( 28454305 )
2017
45
Apatinib for the treatment of pulmonary epithelioid hemangioendothelioma: A case report and literature review. ( 29137048 )
2017
46
Hepatic Epithelioid Hemangioendothelioma - a Rare Tumor and Diagnostic Dilemma. ( 28652454 )
2017
47
Epithelioid hemangioendothelioma presenting as fever of unknown origin. ( 28507590 )
2017
48
Epithelioid hemangioendothelioma of the spine: case report and review of the literature. ( 28744509 )
2017
49
Clinico-radiological features and next generation sequencing of pulmonary epithelioid hemangioendothelioma: A case report and review of literature. ( 28777494 )
2017
50
Hepatic epithelioid hemangioendothelioma with metastasis to the mesentery of the small intestine: A case report. ( 29142751 )
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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 CAV1 FLT1 KDR PGF PGR VEGFA
2
Show member pathways
12.89 CAV1 FLT1 KDR PGF VEGFA YAP1
3
Show member pathways
12.75 FLT1 KDR PGF VEGFA
4
Show member pathways
12.57 CAV1 FLT1 KDR PGF VEGFA
5 12.49 FLT1 KDR PGF VEGFA
6
Show member pathways
12.44 FLT1 KDR PGF VEGFA
7
Show member pathways
12.31 FLT1 KDR PGF VEGFA
8
Show member pathways
12.17 FLT1 KDR VEGFA
9
Show member pathways
12.11 FLT1 KDR PGF VEGFA
10 12.07 CAV1 KDR VEGFA
11
Show member pathways
12.01 FLT1 KDR VEGFA
12 11.83 FLT1 KDR VEGFA
13 11.83 CAV1 KDR VEGFA
14
Show member pathways
11.69 FLT1 KDR VEGFA
15 11.63 FLT1 KDR WWTR1 YAP1
16 11.47 FLT1 KDR VEGFA
17 11.29 KDR VEGFA
18
Show member pathways
11.25 KDR VEGFA
19 11.13 FLT1 KDR VEGFA
20 11.06 WWTR1 YAP1
21 11 FLT1 VEGFA
22
Show member pathways
10.98 CAV1 FLT1 KDR PGF VEGFA
23 10.96 FLT1 KDR VEGFA
24 10.87 WWTR1 YAP1
25 10.86 FLT1 KDR VEGFA
26 10.51 FLT1 KDR VEGFA

GO Terms for Epithelioid Hemangioendothelioma

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.99 CAV1 FLT1 KDR PGF VEGFA
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 CAMTA1 PGR TFE3 VEGFA WWTR1 YAP1
3 negative regulation of gene expression GO:0010629 9.84 KDR PGR VEGFA
4 positive regulation of protein phosphorylation GO:0001934 9.8 KDR PGF VEGFA
5 response to hypoxia GO:0001666 9.8 CAV1 PGF VEGFA
6 positive regulation of cell proliferation GO:0008284 9.8 FLT1 KDR PGF VEGFA WWTR1 YAP1
7 transcription initiation from RNA polymerase II promoter GO:0006367 9.79 PGR WWTR1 YAP1
8 positive regulation of cell migration GO:0030335 9.78 CAV1 FLT1 KDR VEGFA
9 positive regulation of endothelial cell proliferation GO:0001938 9.71 KDR PGF VEGFA
10 lactation GO:0007595 9.67 CAV1 VEGFA
11 positive regulation of angiogenesis GO:0045766 9.67 FLT1 KDR PGF VEGFA
12 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.66 KDR VEGFA
13 mammary gland development GO:0030879 9.65 CAV1 PGR
14 response to progesterone GO:0032570 9.65 CAV1 YAP1
15 regulation of canonical Wnt signaling pathway GO:0060828 9.65 WWTR1 YAP1
16 angiogenesis GO:0001525 9.65 CAV1 FLT1 KDR PGF VEGFA
17 sprouting angiogenesis GO:0002040 9.64 PGF VEGFA
18 hippo signaling GO:0035329 9.64 WWTR1 YAP1
19 positive regulation of focal adhesion assembly GO:0051894 9.63 KDR VEGFA
20 cell migration involved in sprouting angiogenesis GO:0002042 9.61 KDR VEGFA
21 tissue homeostasis GO:0001894 9.61 WWTR1 YAP1
22 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.6 FLT1 VEGFA
23 induction of positive chemotaxis GO:0050930 9.58 PGF VEGFA
24 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.58 FLT1 KDR VEGFA
25 negative regulation of epithelial cell differentiation GO:0030857 9.57 CAV1 YAP1
26 positive regulation of positive chemotaxis GO:0050927 9.56 KDR VEGFA
27 progesterone receptor signaling pathway GO:0050847 9.55 PGR YAP1
28 positive regulation of mast cell chemotaxis GO:0060754 9.52 PGF VEGFA
29 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.51 WWTR1 YAP1
30 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.49 KDR VEGFA
31 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.46 FLT1 KDR PGF VEGFA
32 heart process GO:0003015 9.43 WWTR1 YAP1
33 negative regulation of signal transduction GO:0009968 9.27 CAV1
34 vasculogenesis GO:0001570 9.26 CAV1 KDR VEGFA YAP1
35 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 protein heterodimerization activity GO:0046982 9.26 CAV1 PGF VEGFA YAP1
2 chemoattractant activity GO:0042056 9.16 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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