MCID: EPT020
MIFTS: 49

Epithelioid Hemangioendothelioma

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Cancer 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 hemangioendothelioma and hemangioma. 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 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 cardiovascular system

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 118)
# Related Disease Score Top Affiliating Genes
1 hemangioendothelioma 31.2 CAMTA1 KDR PECAM1
2 hemangioma 29.7 KDR PECAM1 VEGFA
3 angiosarcoma 28.9 FLT1 KDR PECAM1 VEGFA
4 malignant epithelioid hemangioendothelioma 12.3
5 hepatitis 10.8
6 neovascular glaucoma 10.5 PGF VEGFA
7 skin hemangioma 10.5 KDR VEGFA
8 glomeruloid hemangioma 10.4 FLT1 VEGFA
9 retinal vascular occlusion 10.4 PGF VEGFA
10 microcystic meningioma 10.4 FLT1 VEGFA
11 angiomatous meningioma 10.4 KDR VEGFA
12 lipodermatosclerosis 10.4 FLT1 VEGFA
13 mild pre-eclampsia 10.4 FLT1 PGF
14 pancreatic serous cystadenoma 10.3 VEGFA VHL
15 twin-to-twin transfusion syndrome 10.3 FLT1 PGF
16 leukostasis 10.3 KDR VEGFA
17 placenta accreta 10.3 FLT1 PGF
18 lymphangioma 10.3 KDR VEGFA
19 peripartum cardiomyopathy 10.3 FLT1 VEGFA
20 coats disease 10.3 KDR VEGFA
21 mediastinitis 10.3
22 degeneration of macula and posterior pole 10.1 KDR VEGFA
23 retinal hemangioblastoma 10.1 VEGFA VHL
24 thyroiditis 10.1
25 cervicitis 10.1
26 kuhnt-junius degeneration 10.1 KDR PGF VEGFA
27 placental abruption 10.1 FLT1 PGF
28 limb ischemia 10.1 KDR PGF VEGFA
29 endotheliitis 10.0
30 sarcoma 10.0
31 cancer-associated retinopathy 10.0 FLT1 PGF VEGFA
32 epileptic encephalopathy, childhood-onset 10.0 KDR VEGFA
33 angiokeratoma circumscriptum 10.0 FLT1 KDR VEGFA
34 clear cell papillary renal cell carcinoma 10.0 TFE3 VHL
35 acute hemorrhagic leukoencephalitis 10.0 FLT1 KDR VEGFA
36 breast carcinoma in situ 10.0 FLT1 KDR VEGFA
37 corneal neovascularization 10.0 FLT1 KDR VEGFA
38 retinal vascular disease 10.0 FLT1 KDR VEGFA
39 exudative vitreoretinopathy 1 10.0 FLT1 KDR VEGFA
40 biliary cirrhosis, primary, 1 10.0
41 primary biliary cholangitis 10.0
42 budd-chiari syndrome 10.0
43 aneurysm 10.0
44 adenocarcinoma 10.0
45 cerebritis 10.0
46 histiocytoma 10.0
47 cavernous hemangioma 10.0
48 primary biliary cirrhosis 10.0
49 arteriovenous malformations of the brain 9.9 KDR VEGFA
50 kaposiform hemangioendothelioma 9.9 KDR PECAM1

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 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.18 PGF TFE3 VEGFA VHL WWTR1 YAP1
2 cardiovascular system MP:0005385 10.17 FLT1 KDR PECAM1 PGF VEGFA VHL
3 immune system MP:0005387 10.15 FLT1 KDR PECAM1 PGF TFE3 VEGFA
4 homeostasis/metabolism MP:0005376 10.11 FLT1 KDR PECAM1 PGF VEGFA VHL
5 cellular MP:0005384 10.1 FLT1 KDR PECAM1 VEGFA VHL WWTR1
6 mortality/aging MP:0010768 10.03 CAMTA1 FLT1 KDR TFE3 VEGFA VHL
7 embryo MP:0005380 10.01 FLT1 KDR PGF VEGFA VHL YAP1
8 digestive/alimentary MP:0005381 9.95 PECAM1 VEGFA VHL WWTR1 YAP1
9 integument MP:0010771 9.95 YAP1 KDR PGF TFE3 VEGFA VHL
10 muscle MP:0005369 9.95 FLT1 KDR PECAM1 VEGFA VHL WWTR1
11 liver/biliary system MP:0005370 9.93 KDR PECAM1 VEGFA VHL WWTR1 YAP1
12 normal MP:0002873 9.8 CAMTA1 FLT1 KDR TFE3 VEGFA VHL
13 neoplasm MP:0002006 9.77 YAP1 CAMTA1 PGF VEGFA VHL
14 renal/urinary system MP:0005367 9.65 PECAM1 VEGFA VHL WWTR1 YAP1
15 respiratory system MP:0005388 9.63 KDR PECAM1 PGF VEGFA WWTR1 YAP1
16 skeleton MP:0005390 9.43 KDR PECAM1 TFE3 VEGFA VHL WWTR1
17 vision/eye MP:0005391 9.1 FLT1 KDR PGF TFE3 VEGFA VHL

Drugs & Therapeutics for Epithelioid Hemangioendothelioma

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

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

Publications for Epithelioid Hemangioendothelioma

Articles related to Epithelioid Hemangioendothelioma:

(show top 50) (show all 568)
# 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
Intravascular epithelioid hemangioendothelioma of the femoral vein diagnosed by contrast-enhanced ultrasonography: A care-compliant case report. ( 29245342 )
2017
12
18-F-FDG PET-CT in Monitoring of Chemotherapeutic Effect in a Case of Metastatic Hepatic Epithelioid Hemangioendothelioma. ( 28680215 )
2017
13
Primary epithelioid hemangioendothelioma of the dorsal spine: A review. ( 28879934 )
2017
14
New Insights about Pulmonary Epithelioid Hemangioendothelioma: Review of the Literature and Two Case Reports. ( 28884037 )
2017
15
Pulmonary epithelioid hemangioendothelioma imitating lung cancer. ( 29181052 )
2017
16
Epithelioid hemangioendothelioma of the craniocervical junction; case report and review. ( 28478911 )
2017
17
Malignant Hepatic Epithelioid Hemangioendothelioma with Villaret Syndrome. ( 28348474 )
2017
18
An Epithelioid Hemangioendothelioma of the Head and Neck. ( 28834832 )
2017
19
Cutaneous epithelioid hemangioendothelioma on the sole mimicking a pyogenic granuloma. ( 28664615 )
2017
20
Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge and TFE3 gene rearrangement. ( 28855107 )
2017
21
The clinical features of epithelioid hemangioendothelioma in a Han Chinese population: A retrospective analysis. ( 28658152 )
2017
22
Magnetic resonance findings of hepatic epithelioid hemangioendothelioma: emphasis on hepatobiliary phase using Gd-EOB-DTPA. ( 28365784 )
2017
23
68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Metastasizing Epithelioid Hemangioendothelioma: Comparison With 18F-FDG. ( 28872546 )
2017
24
MicroRNA profile of hepatic epithelioid hemangioendothelioma: A case report. ( 28454305 )
2017
25
Apatinib for the treatment of pulmonary epithelioid hemangioendothelioma: A case report and literature review. ( 29137048 )
2017
26
Hepatic Epithelioid Hemangioendothelioma - a Rare Tumor and Diagnostic Dilemma. ( 28652454 )
2017
27
Epithelioid hemangioendothelioma presenting as fever of unknown origin. ( 28507590 )
2017
28
Epithelioid hemangioendothelioma of the spine: case report and review of the literature. ( 28744509 )
2017
29
Clinico-radiological features and next generation sequencing of pulmonary epithelioid hemangioendothelioma: A case report and review of literature. ( 28777494 )
2017
30
Hepatic epithelioid hemangioendothelioma with metastasis to the mesentery of the small intestine: A case report. ( 29142751 )
2017
31
Aggressive primary hepatic epithelioid hemangioendothelioma: a case report and literature review. ( 28607810 )
2017
32
(18)F-FDG PET/CT in Pleural Epithelioid Hemangioendothelioma. ( 28840142 )
2017
33
TFE3-rearranged hepatic epithelioid hemangioendothelioma-a case report with immunohistochemical and molecular study. ( 28585251 )
2017
34
Hepatic epithelioid hemangioendothelioma: a report from three university centers. ( 27818541 )
2016
35
A Rare Case of Pulmonary Epithelioid Hemangioendothelioma Presenting with Skin Metastasis. ( 27218028 )
2016
36
Pulmonary Epithelioid Hemangioendothelioma Diagnosed With Endobronchial Biopsies: A Case Report and Literature Review. ( 27058721 )
2016
37
Nasal cavity epithelioid hemangioendothelioma invading the anterior skull base. ( 27213107 )
2016
38
Role of FDG-PET scan in staging of pulmonary epithelioid hemangioendothelioma. ( 28352786 )
2016
39
Sirolimus in Advanced Epithelioid Hemangioendothelioma: A Retrospective Case-Series Analysis from the Italian Rare Cancer Network Database. ( 27334221 )
2016
40
Contrast-enhanced ultrasound of histologically proven hepatic epithelioid hemangioendothelioma. ( 27217705 )
2016
41
Hepatic epithelioid hemangioendothelioma: Dilemma and challenges in the preoperative diagnosis. ( 27895413 )
2016
42
P2.24: Pulmonary-Epithelioid Hemangioendothelioma: A Case ReportA of Spontaneous Regression: Track: Supportive Care and Others. ( 27676560 )
2016
43
Radiographic and Histologic Findings of a Rare Liver Tumor-Hepatic Epithelioid Hemangioendothelioma. ( 26809872 )
2016
44
Epithelioid Hemangioendothelioma: a Rare Primary Thyroid Tumor with Confirmation of WWTR1 and CAMTA1 Rearrangements. ( 27026033 )
2016
45
Cutaneous epithelioid hemangioendothelioma treated with Mohs micrographic surgery. ( 27062603 )
2016
46
Mediastinal Epithelioid Hemangioendothelioma. ( 26649628 )
2016
47
Epithelioid hemangioendothelioma in the thorax: Clinicopathologic, CT, PET, and prognostic features. ( 27472721 )
2016
48
Pleural Epithelioid Hemangioendothelioma: A Case Report and Literature Review. ( 27372473 )
2016
49
Primary Hepatic Epithelioid Hemangioendothelioma: Diagnostic Dilemmas in Cytology and Histology. ( 27072389 )
2016
50
Epithelioid Hemangioendothelioma Presenting as Inferior Vena Cava Obstruction Diagnosed Using an Endovascular Thrombectomy Device. ( 28012782 )
2016

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 FLT1 KDR PGF VEGFA YAP1
2
Show member pathways
12.73 FLT1 KDR PGF VEGFA
3
Show member pathways
12.66 FLT1 KDR PGF VEGFA
4 12.5 FLT1 KDR PGF VEGFA
5
Show member pathways
12.44 FLT1 KDR PGF VEGFA
6
Show member pathways
12.25 TFE3 VEGFA VHL
7
Show member pathways
12.17 FLT1 KDR VEGFA
8
Show member pathways
12.08 FLT1 KDR PGF VEGFA
9
Show member pathways
12 FLT1 KDR VEGFA
10 11.83 FLT1 KDR VEGFA
11 11.83 KDR PECAM1 VEGFA
12 11.79 FLT1 KDR WWTR1 YAP1
13
Show member pathways
11.71 FLT1 KDR VEGFA
14 11.63 FLT1 VEGFA VHL
15 11.56 FLT1 KDR PECAM1
16
Show member pathways
11.32 FLT1 KDR PGF VEGFA VHL
17 11.29 KDR VEGFA
18
Show member pathways
11.24 KDR VEGFA
19 11.17 FLT1 KDR VEGFA
20 11.06 WWTR1 YAP1
21 11 FLT1 VEGFA
22 10.99 FLT1 KDR VEGFA VHL
23 10.87 WWTR1 YAP1
24 10.81 FLT1 KDR VEGFA
25 10.75 VEGFA VHL
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 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 CAMTA1 TFE3 VEGFA WWTR1 YAP1
2 negative regulation of apoptotic process GO:0043066 9.88 FLT1 KDR VEGFA VHL
3 negative regulation of gene expression GO:0010629 9.79 KDR VEGFA VHL
4 positive regulation of cell migration GO:0030335 9.77 FLT1 KDR VEGFA
5 angiogenesis GO:0001525 9.67 FLT1 KDR PGF VEGFA
6 positive regulation of endothelial cell proliferation GO:0001938 9.65 KDR PGF VEGFA
7 positive regulation of endothelial cell migration GO:0010595 9.64 KDR VEGFA
8 positive regulation of blood vessel endothelial cell migration GO:0043536 9.63 KDR VEGFA
9 positive regulation of cell adhesion GO:0045785 9.63 TFE3 VEGFA
10 positive regulation of cell proliferation GO:0008284 9.63 FLT1 KDR PGF VEGFA WWTR1 YAP1
11 positive regulation of cell division GO:0051781 9.62 PGF VEGFA
12 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.62 KDR VEGFA
13 positive regulation of angiogenesis GO:0045766 9.62 FLT1 KDR PGF VEGFA
14 regulation of canonical Wnt signaling pathway GO:0060828 9.61 WWTR1 YAP1
15 hippo signaling GO:0035329 9.59 WWTR1 YAP1
16 sprouting angiogenesis GO:0002040 9.58 FLT1 PGF
17 positive regulation of focal adhesion assembly GO:0051894 9.57 KDR VEGFA
18 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.55 FLT1 VEGFA
19 cell migration involved in sprouting angiogenesis GO:0002042 9.54 KDR VEGFA
20 induction of positive chemotaxis GO:0050930 9.52 PGF VEGFA
21 positive regulation of positive chemotaxis GO:0050927 9.51 KDR VEGFA
22 vascular endothelial growth factor signaling pathway GO:0038084 9.49 FLT1 KDR
23 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.46 WWTR1 YAP1
24 positive regulation of mast cell chemotaxis GO:0060754 9.43 PGF VEGFA
25 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.43 FLT1 KDR VEGFA
26 positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway GO:0038033 9.4 KDR VEGFA
27 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.26 FLT1 KDR PGF VEGFA
28 vasculogenesis GO:0001570 8.92 FLT1 KDR VEGFA YAP1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.85 CAMTA1 FLT1 KDR PECAM1 PGF TFE3
2 growth factor binding GO:0019838 9.26 FLT1 KDR
3 vascular endothelial growth factor-activated receptor activity GO:0005021 8.96 FLT1 KDR
4 vascular endothelial growth factor receptor binding GO:0005172 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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