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 59 73
Epithelioid Hemangioendothelioma, Malignant 73
Hemangioendothelioma Epithelioid 55

Characteristics:

Orphanet epidemiological data:

59
epithelioid hemangioendothelioma
Age of onset: Adolescent,Adult,Childhood,Elderly; Age of death: adult,elderly;

Classifications:



External Ids:

Orphanet 59 ORPHA157791
MESH via Orphanet 45 D018323
UMLS via Orphanet 74 C0206732
ICD10 via Orphanet 34 D18.0

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 growth/size/body region and behavior/neurological

Wikipedia : 76 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 113)
# Related Disease Score Top Affiliating Genes
1 malignant epithelioid hemangioendothelioma 33.2 CAMTA1 KDR TFE3 WWTR1 YAP1
2 hemangioendothelioma 32.3 CAMTA1 KDR
3 hemangioma 30.5 FLT1 KDR VEGFA
4 angiosarcoma 30.1 FLT1 KDR MUC1 VEGFA
5 adenocarcinoma 29.9 KDR MUC1 VEGFA
6 sarcoma 10.2
7 neovascular glaucoma 10.2 PGF VEGFA
8 kuhnt-junius degeneration 10.2 PGF VEGFA
9 mild pre-eclampsia 10.1 FLT1 PGF
10 retinal vascular occlusion 10.1 PGF VEGFA
11 glomeruloid hemangioma 10.1 FLT1 VEGFA
12 twin-to-twin transfusion syndrome 10.1 FLT1 PGF
13 microcystic meningioma 10.1 FLT1 VEGFA
14 lipodermatosclerosis 10.1 FLT1 VEGFA
15 placenta accreta 10.1 FLT1 PGF
16 radiation proctitis 10.1 KDR VEGFA
17 biliary cirrhosis, primary, 1 10.1
18 lung cancer 10.1
19 budd-chiari syndrome 10.1
20 crohn's disease 10.1
21 primary biliary cirrhosis 10.1
22 teratoma 10.1
23 histiocytoma 10.1
24 primary biliary cholangitis 10.1
25 drug-induced lupus erythematosus 10.1 KDR VEGFA
26 angiomatous meningioma 10.1 KDR VEGFA
27 placental abruption 10.1 FLT1 PGF
28 leukostasis 10.1 KDR VEGFA
29 lymphangioma 10.1 KDR VEGFA
30 coats disease 10.1 KDR VEGFA
31 acute mountain sickness 10.1 FLT1 VEGFA
32 sarcomatoid squamous cell skin carcinoma 10.1 CAMTA1 TFE3
33 epileptic encephalopathy, childhood-onset 10.0 KDR VEGFA
34 cancer-associated retinopathy 10.0 FLT1 PGF VEGFA
35 degeneration of macula and posterior pole 10.0 KDR VEGFA
36 arteries, anomalies of 10.0 FLT1 PGF VEGFA
37 limb ischemia 10.0 KDR PGF VEGFA
38 breast carcinoma in situ 10.0 KDR VEGFA
39 angiokeratoma circumscriptum 10.0 FLT1 KDR VEGFA
40 skin hemangioma 10.0 FLT1 KDR VEGFA
41 capillary hemangioma 10.0 FLT1 KDR VEGFA
42 corneal neovascularization 10.0 FLT1 KDR VEGFA
43 exudative vitreoretinopathy 1 10.0 FLT1 KDR VEGFA
44 breast cancer 10.0
45 hepatocellular carcinoma 10.0
46 temporal arteritis 10.0
47 hemangiopericytoma, malignant 10.0
48 myelofibrosis 10.0
49 ovarian germ cell cancer 10.0
50 reflex sympathetic dystrophy 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 CAMTA1 CAV1 FLT1 KDR PGF TFE3
2 behavior/neurological MP:0005386 10.02 CAMTA1 CAV1 FLT1 KDR VEGFA WWTR1
3 immune system MP:0005387 10.01 CAV1 FLT1 KDR PGF TFE3 VEGFA
4 cardiovascular system MP:0005385 10 CAV1 FLT1 KDR PGF VEGFA WWTR1
5 mortality/aging MP:0010768 9.86 CAMTA1 CAV1 FLT1 KDR TFE3 VEGFA
6 integument MP:0010771 9.85 CAV1 KDR PGF TFE3 VEGFA YAP1
7 liver/biliary system MP:0005370 9.72 CAV1 KDR VEGFA WWTR1 YAP1
8 muscle MP:0005369 9.63 CAV1 FLT1 KDR VEGFA WWTR1 YAP1
9 neoplasm MP:0002006 9.35 CAMTA1 CAV1 PGF VEGFA YAP1
10 respiratory system MP:0005388 9.1 CAV1 KDR PGF VEGFA WWTR1 YAP1

Drugs & Therapeutics for Epithelioid Hemangioendothelioma

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

(show all 14)
# 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
Tremelimumab Investigational Phase 2 745013-59-6
5 Protein Kinase Inhibitors Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunologic Factors Phase 2
8 Antibodies Phase 2
9 Immunoglobulins Phase 2
10 Antimetabolites Phase 2
11 Antiviral Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Antimetabolites, Antineoplastic Phase 2
14 Anti-Infective Agents 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 Multi-Arm Study to Test the Efficacy of Immunotherapeutic Agents in Multiple Sarcoma Subtypes Recruiting NCT02815995 Phase 2 Durvalumab;Tremelimumab
5 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
6 Gemcitabine Hydrochloride With or Without Pazopanib Hydrochloride in Treating Patients With Refractory Soft Tissue Sarcoma Recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride

Search NIH Clinical Center for Epithelioid Hemangioendothelioma

Genetic Tests for Epithelioid Hemangioendothelioma

Anatomical Context for Epithelioid Hemangioendothelioma

MalaCards organs/tissues related to Epithelioid Hemangioendothelioma:

41
Liver, Bone, Lung, Heart, Thyroid, Skin, Breast

Publications for Epithelioid Hemangioendothelioma

Articles related to Epithelioid Hemangioendothelioma:

(show top 50) (show all 622)
# Title Authors Year
1
Unicentric epithelioid hemangioendothelioma of the calcaneus: a case report and review of literature. ( 29632658 )
2018
2
Cytologic features, immunocytochemical findings, and DNA ploidy in four rare cases of epithelioid hemangioendothelioma involving effusions. ( 29937917 )
2018
3
Diagnosing Epithelioid Hemangioendothelioma with Pericardial Involvement. ( 29689240 )
2018
4
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
5
Massive Epithelioid Hemangioendothelioma Causing Noncirrhotic Portal Hypertension. ( 29609064 )
2018
6
Hepatic Epithelioid Hemangioendothelioma. ( 29372848 )
2018
7
Hepatic epithelioid hemangioendothelioma: A misdiagnosed rare liver tumor. ( 29373279 )
2018
8
Hepatic Epithelioid Hemangioendothelioma Presenting as an Enlarging Vascular Lesion within the Spleen. ( 29850364 )
2018
9
Epithelioid Hemangioendothelioma: Update on Diagnosis and Treatment. ( 29546487 )
2018
10
Epithelioid hemangioendothelioma, an uncommon tumor of the eyelid: A case report. ( 29030282 )
2018
11
Epithelioid Hemangioendothelioma of the Bowel in Crohn's Disease: The First Reported Case. ( 30238810 )
2018
12
Epithelioid Hemangioendothelioma as a Model of YAP/TAZ-Driven Cancer: Insights from a Rare Fusion Sarcoma. ( 29996478 )
2018
13
A Case of Large Meningeal Epithelioid Hemangioendothelioma With WWTR1-CAMTA1 Gene Rearrangement and Slow Growth Over 15 Years. ( 30085199 )
2018
14
CT-guided Biopsy for the Diagnosis of Pulmonary Epithelioid Hemangioendothelioma Mimicking Metastatic Lung Cancer: A Case Report. ( 30101918 )
2018
15
The Feature of Solitary Small Nodular Type of Hepatic Epithelioid Hemangioendothelioma. ( 30186092 )
2018
16
A Case of Vanishing Metastatic Mass: Right Atrial Mass in the Setting of Primary Epithelioid Hemangioendothelioma of the Spine. ( 30186136 )
2018
17
Primary Epithelioid Hemangioendothelioma of the Heart. ( 30219135 )
2018
18
Cutaneous epithelioid hemangioendothelioma: A rare presentation. ( 30289116 )
2018
19
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
20
Clinical characteristics of Japanese patients with epithelioid hemangioendothelioma: a multicenter retrospective study. ( 30340559 )
2018
21
Hepatic epithelioid hemangioendothelioma: A great mimicker. ( 30366173 )
2018
22
The "Target sign" and the "Lollipop sign" in hepatic epithelioid hemangioendothelioma. ( 30367214 )
2018
23
Hepatic epithelioid hemangioendothelioma: Challenges in the preoperative diagnosis. ( 30392574 )
2018
24
Primary Epithelioid Hemangioendothelioma of the Heart. ( 30454535 )
2018
25
18F-FDG PET and Bone Scintigraphy of Epithelioid Hemangioendothelioma. ( 30516676 )
2018
26
Intravascular epithelioid hemangioendothelioma of the femoral vein diagnosed by contrast-enhanced ultrasonography: A care-compliant case report. ( 29245342 )
2017
27
18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma. ( 28680215 )
2017
28
Primary epithelioid hemangioendothelioma of the dorsal spine: A review. ( 28879934 )
2017
29
New Insights about Pulmonary Epithelioid Hemangioendothelioma: Review of the Literature and Two Case Reports. ( 28884037 )
2017
30
Pulmonary epithelioid hemangioendothelioma imitating lung cancer. ( 29181052 )
2017
31
Epithelioid hemangioendothelioma of the craniocervical junction; case report and review. ( 28478911 )
2017
32
Malignant Hepatic Epithelioid Hemangioendothelioma with Villaret Syndrome. ( 28348474 )
2017
33
An Epithelioid Hemangioendothelioma of the Head and Neck. ( 28834832 )
2017
34
Cutaneous epithelioid hemangioendothelioma on the sole mimicking a pyogenic granuloma. ( 28664615 )
2017
35
Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge and TFE3 gene rearrangement. ( 28855107 )
2017
36
The clinical features of epithelioid hemangioendothelioma in a Han Chinese population: A retrospective analysis. ( 28658152 )
2017
37
Magnetic resonance findings of hepatic epithelioid hemangioendothelioma: emphasis on hepatobiliary phase using Gd-EOB-DTPA. ( 28365784 )
2017
38
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Metastasizing Epithelioid Hemangioendothelioma: Comparison With 18F-FDG. ( 28872546 )
2017
39
MicroRNA profile of hepatic epithelioid hemangioendothelioma: A case report. ( 28454305 )
2017
40
Apatinib for the treatment of pulmonary epithelioid hemangioendothelioma: A case report and literature review. ( 29137048 )
2017
41
Hepatic Epithelioid Hemangioendothelioma - a Rare Tumor and Diagnostic Dilemma. ( 28652454 )
2017
42
Epithelioid hemangioendothelioma presenting as fever of unknown origin. ( 28507590 )
2017
43
Epithelioid hemangioendothelioma of the spine: case report and review of the literature. ( 28744509 )
2017
44
Clinico-radiological features and next generation sequencing of pulmonary epithelioid hemangioendothelioma: A case report and review of literature. ( 28777494 )
2017
45
Hepatic epithelioid hemangioendothelioma with metastasis to the mesentery of the small intestine: A case report. ( 29142751 )
2017
46
Aggressive primary hepatic epithelioid hemangioendothelioma: a case report and literature review. ( 28607810 )
2017
47
(18)F-FDG PET/CT in Pleural Epithelioid Hemangioendothelioma. ( 28840142 )
2017
48
TFE3-rearranged hepatic epithelioid hemangioendothelioma-a case report with immunohistochemical and molecular study. ( 28585251 )
2017
49
Spontaneous rupture of hepatic epithelioid hemangioendothelioma: A case report. ( 28104995 )
2017
50
Epithelioid hemangioendothelioma of the thyroid: a case report. ( 28132160 )
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
12.93 CAV1 FLT1 KDR PGF VEGFA YAP1
2
Show member pathways
12.75 FLT1 KDR PGF VEGFA
3
Show member pathways
12.6 CAV1 FLT1 KDR PGF VEGFA
4 12.5 FLT1 KDR PGF VEGFA
5
Show member pathways
12.45 FLT1 KDR PGF VEGFA
6
Show member pathways
12.33 FLT1 KDR PGF VEGFA
7
Show member pathways
12.17 FLT1 KDR VEGFA
8
Show member pathways
12.13 FLT1 KDR PGF VEGFA
9 12.08 CAV1 KDR VEGFA
10
Show member pathways
12.01 FLT1 KDR VEGFA
11 11.84 CAV1 KDR VEGFA
12 11.83 FLT1 KDR VEGFA
13 11.73 FLT1 KDR WWTR1 YAP1
14
Show member pathways
11.71 FLT1 KDR VEGFA
15 11.48 FLT1 KDR VEGFA
16
Show member pathways
11.32 CAV1 FLT1 KDR PGF VEGFA
17 11.29 KDR VEGFA
18
Show member pathways
11.25 KDR VEGFA
19 11.17 FLT1 KDR VEGFA
20 11.07 WWTR1 YAP1
21 11.03 FLT1 KDR VEGFA
22 11.01 FLT1 VEGFA
23 10.88 WWTR1 YAP1
24 10.87 FLT1 KDR VEGFA
25 10.71 FLT1 KDR VEGFA
26
Show member pathways
10.13 FLT1 KDR PGF VEGFA

GO Terms for Epithelioid Hemangioendothelioma

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 CAV1 FLT1 KDR PGF VEGFA
2 positive regulation of cell proliferation GO:0008284 9.8 FLT1 KDR PGF VEGFA WWTR1 YAP1
3 positive regulation of protein phosphorylation GO:0001934 9.79 KDR PGF VEGFA
4 response to hypoxia GO:0001666 9.79 CAV1 PGF VEGFA
5 positive regulation of cell migration GO:0030335 9.76 CAV1 FLT1 KDR VEGFA
6 negative regulation of signal transduction GO:0009968 9.73 CAV1 FLT1 KDR
7 positive regulation of endothelial cell proliferation GO:0001938 9.7 KDR PGF VEGFA
8 positive regulation of angiogenesis GO:0045766 9.67 FLT1 KDR PGF VEGFA
9 positive chemotaxis GO:0050918 9.66 PGF VEGFA
10 positive regulation of cell division GO:0051781 9.65 PGF VEGFA
11 lactation GO:0007595 9.65 CAV1 VEGFA
12 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.65 KDR VEGFA
13 angiogenesis GO:0001525 9.65 CAV1 FLT1 KDR PGF VEGFA
14 response to progesterone GO:0032570 9.64 CAV1 YAP1
15 regulation of canonical Wnt signaling pathway GO:0060828 9.64 WWTR1 YAP1
16 sprouting angiogenesis GO:0002040 9.63 PGF VEGFA
17 hippo signaling GO:0035329 9.63 WWTR1 YAP1
18 positive regulation of focal adhesion assembly GO:0051894 9.62 KDR VEGFA
19 cell migration involved in sprouting angiogenesis GO:0002042 9.6 KDR VEGFA
20 tissue homeostasis GO:0001894 9.59 WWTR1 YAP1
21 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.58 FLT1 VEGFA
22 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.58 FLT1 KDR VEGFA
23 induction of positive chemotaxis GO:0050930 9.57 PGF VEGFA
24 negative regulation of epithelial cell differentiation GO:0030857 9.55 CAV1 YAP1
25 positive regulation of positive chemotaxis GO:0050927 9.54 KDR VEGFA
26 positive regulation of mast cell chemotaxis GO:0060754 9.51 PGF VEGFA
27 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.49 WWTR1 YAP1
28 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.48 KDR VEGFA
29 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.46 FLT1 KDR PGF VEGFA
30 heart process GO:0003015 9.43 WWTR1 YAP1
31 vasculogenesis GO:0001570 9.26 CAV1 KDR VEGFA YAP1
32 vascular endothelial growth factor signaling pathway GO:0038084 8.92 FLT1 KDR PGF VEGFA
33 positive regulation of transcription by RNA polymerase II GO:0045944 10 CAMTA1 TFE3 VEGFA WWTR1 YAP1

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 9.46 CAV1 PGF VEGFA YAP1
2 growth factor binding GO:0019838 9.32 FLT1 KDR
3 chemoattractant activity GO:0042056 9.26 PGF VEGFA
4 vascular endothelial growth factor-activated receptor activity GO:0005021 8.96 FLT1 KDR
5 vascular endothelial growth factor receptor 3 binding GO:0043185 8.62 PGF VEGFA

Sources for Epithelioid Hemangioendothelioma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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