MCID: PRV003
MIFTS: 48

Perivascular Epithelioid Cell Tumor malady

Cancer category

Summaries for Perivascular Epithelioid Cell Tumor

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33MalaCards
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MalaCards: Perivascular Epithelioid Cell Tumor, also known as neoplasm with perivascular epithelioid cell differentiation, is related to lymphangioleiomyomatosis and angiomyolipoma. An important gene associated with Perivascular Epithelioid Cell Tumor is ACTC1 (actin, alpha, cardiac muscle 1), and among its related pathways are Inhibition of TSC complex formation by PKB and Glioblastoma Multiforme. The compounds paclitaxel and monochloroacetic acid have been mentioned in the context of this disorder. Affiliated tissues include lymph node, heart and smooth muscle, and related mouse phenotypes are pigmentation and muscle.

Aliases & Classifications for Perivascular Epithelioid Cell Tumor

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer


Aliases & Descriptions:

perivascular epithelioid cell tumor 8 10
neoplasm with perivascular epithelioid cell differentiation 8
perivascular epithelioid cell neoplasms 61
pecoma 8


External Ids:

Disease Ontology8 DOID:2643
NCIt40 C38150
SNOMED-CT57 388601000
MeSH35 D054973

Related Diseases for Perivascular Epithelioid Cell Tumor

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Perivascular Epithelioid Cell Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 176)
idRelated DiseaseScoreTop Affiliating Genes
1lymphangioleiomyomatosis30.9TSC1, TSC2, DES
2angiomyolipoma30.7PMEL, VIM, CCL26, S100A1, MLANA, RHEB
3tuberous sclerosis complex30.4TSC2, TSC1
4angiosarcoma30.4VIM, ACTC1, MUC1
5acute leukemia30.4NTRK3, KIT, TSC2, KITLG
6tuberous sclerosis30.4TSC2, S100B, VIM, CCL26, TSC1, SYP
7smooth muscle tumor30.4VIM, CALD1, S100B, S100A1, DES, KIT
8gastrointestinal stromal tumor30.4ACTC1, KIT, KITLG, NTRK3, DES, S100A1
9epithelioid leiomyosarcoma30.2ACTC1, DES, VIM
10clear cell sarcoma29.9S100B, KIT
11fibromatosis29.9ACTC1, KIT, DES, S100A1, VIM
12uterus perivascular epithelioid cell tumor10.9
13acute t cell leukemia10.3
14appendicitis10.3
15benign perivascular tumor10.3
16t-cell leukemia10.3
17heart tumor10.3
18myopericytoma10.3
19hemangioma10.0ACTC1
20esophagitis10.0CCL26
21renal oncocytoma10.0S100A1
22von hippel-lindau disease10.0TSC2
23atopic dermatitis10.0CCL26
24fasciitis10.0ACTC1
25endometriosis10.0ACTC1
26pneumothorax10.0TSC1
27uterine carcinosarcoma10.0KIT
28histiocytosis10.0S100B
29infantile myofibromatosis10.0DES
30neuroblastoma10.0SYP
31sertoli-leydig cell tumor10.0MUC1
32pituitary adenoma10.0SYP
33pancreatitis10.0KITLG
34carney triad10.0KIT
35pancreatic islet cell tumors10.0SYP
36melanotic neuroectodermal tumor10.0SYP
37cystadenocarcinoma10.0MUC1
38oxyphilic adenoma10.0S100A1, TFE3
39adenomatoid tumor10.0VIM
40teratoma10.0KIT, ACTC1
41kidney angiomyolipoma10.0TSC2, TSC1
42endometrial carcinoma10.0CDKN2A
43lipoma10.0DES, S100A1
44eccrine porocarcinoma10.0MUC1
45prostate cancer10.0NTRK3
46adenosarcoma10.0DES, ACTC1
47germ cell tumors10.0KIT
48myofibroma10.0CALD1
49osteosarcoma10.0CDKN2A
50endometrial stromal nodule10.0CALD1

Graphical network of the top 20 diseases related to Perivascular Epithelioid Cell Tumor:



Diseases related to perivascular epithelioid cell tumor

Clinical Features for Perivascular Epithelioid Cell Tumor

Drugs & Therapeutics for Perivascular Epithelioid Cell Tumor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Perivascular Epithelioid Cell Tumor

Anatomical Context for Perivascular Epithelioid Cell Tumor

Sources:
33MalaCards
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MalaCards organs/tissues related to Perivascular Epithelioid Cell Tumor:

33
Lymph node, Heart, Smooth muscle, Colon, Kidney, Liver, Lung, Pancreas, Skin, Uterus, Prostate, Cervix, Appendix, Uterus corpus

Animal Models for Perivascular Epithelioid Cell Tumor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Perivascular Epithelioid Cell Tumor

Sources:
51PubMed
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Articles related to Perivascular Epithelioid Cell Tumor:

(show top 50)    (show all 120)
idTitleAuthorsYear
1
Management of perivascular epithelioid cell tumor of the liver: A case report and review of the literature. (24348838)
2014
2
Perivascular epithelioid cell tumor of the rectum: report of a case and review of the literature. (24410788)
2014
3
MRI diagnosis of perivascular epithelioid cell tumor (PEComa) of the liver. (24068418)
2013
4
Pigmented perivascular epithelioid cell tumor of the liver: report of a rare case with brief review of literature. (23771383)
2013
5
A huge malignant perivascular epithelioid cell tumor (PEComa) of the uterine cervix and vagina. (24331571)
2013
6
Malignant perivascular epithelioid cell tumor of mesentery with lymph node involvement: a case report and review of literature. (23587410)
2013
7
Multiple Perivascular Epithelioid Cell Tumors: Clear Cell Tumor of the Lung Accompanied by Angiomyolipoma of the Liver. (23603639)
2013
8
Perivascular epithelioid cell tumor of the sigmoid colon with transcription factor E3 expression. (21546294)
2012
9
Malignant perivascular epithelioid cell tumor of the esophagus. (22957287)
2012
10
Sinonasal perivascular epithelioid cell tumor: benign or malignant neoplasm? (22643949)
2012
11
Perivascular epithelioid cell tumor (PEComa) of gynecologic origin: a clinicopathological study of three cases. (22439417)
2012
12
Bladder perivascular epithelioid cell tumor: a novel rare neoplasm. (22094379)
2012
13
Pigmented perivascular epithelioid cell tumor (PEComa) of the kidney: a case report and review of the literature. (23136579)
2012
14
Ovarian perivascular epithelioid cell tumor not otherwise specified with transcription factor E3 gene rearrangement: a case report and review of the literature. (22305236)
2012
15
Malignant perivascular epithelioid cell tumor in children: description of a case and review of the literature. (22703822)
2012
16
Hepatic perivascular epithelioid cell tumor (PEComa): dynamic CT, MRI, ultrasonography, and pathologic features--analysis of 7 cases and review of the literature. (22278345)
2012
17
Malignant perivascular epithelioid cell tumor (PEComa) of the uterus: serial imaging with F-18 FDG PET/CT for surveillance of recurrence and evaluation of response to therapy. (21368597)
2011
18
A patient presenting with a perivascular epithelioid cell tumor in the broad ligament: a case report. (21846376)
2011
19
Perivascular epithelioid cell tumor of the bladder. (21334671)
2011
20
Perivascular epithelioid cell tumor of the ascending colon mesentery in a child: case report and review of the literature. (20385296)
2010
21
Fertility-sparing operation for recurrence of uterine cervical perivascular epithelioid cell tumor. (21139828)
2010
22
A perivascular epithelioid cell tumor of the stomach: an unsuspected diagnosis. (20101783)
2010
23
Molecular pathology of lymphangioleiomyomatosis and other perivascular epithelioid cell tumors. (20073603)
2010
24
Perivascular epithelioid cell tumor of the heart in a child. (20085497)
2010
25
Perivascular epithelioid cell tumor (PEComa) of the ascending colon: the implication of IFN-I+2b treatment. (21218021)
2010
26
Perivascular epithelioid cell tumor (PEComa) of abdominal cavity from falciform ligament: a case report. (19399284)
2009
27
Perivascular epithelioid cell tumor (PEComa) of the pancreas: immunoelectron microscopy and review of the literature. (19712133)
2009
28
Perivascular epithelioid cell tumor (PEComa) of the urinary bladder: report of 3 cases and review of the literature. (18971775)
2009
29
A case of HMB45-negative perivascular epithelioid cell tumor (PEComa) of the uterine corpus: a possible diagnostic application of molecular-cytogenetic analysis. (19480261)
2009
30
Acute lymphoblastic leukemia secondary to chemoradiotherapy for perivascular epithelioid cell tumor of uterus. (19322738)
2009
31
Perivascular epithelioid cell tumor with SFPQ/PSF-TFE3 gene fusion in a patient with advanced neuroblastoma. (19606011)
2009
32
Primary perivascular epithelioid cell tumor (PEComa) of the liver: report of a case. (19784736)
2009
33
Growing perivascular epithelioid cell tumor of the liver studied with contrast-enhanced ultrasonography and magnetic resonance imaging. (19023006)
2008
34
Primary perivascular epithelioid cell tumor of the liver not related to hepatic ligaments: hepatic PEComa as an emerging entity. (18712670)
2008
35
Pancreatic perivascular epithelioid cell tumor (PEComa)]. (18675170)
2008
36
Perivascular epithelioid cell tumor of the rib. (18437415)
2008
37
Malignant perivascular epithelioid cell tumor ('PEComa'): a case report and literature review of cutaneous/subcutaneous presentations. (18005173)
2008
38
Metastatic perivascular epithelioid cell tumor of the colon in a child. (18493218)
2008
39
Perivascular epithelioid cell tumor of the liver: a report of two cases and review of the literature. (17907305)
2007
40
Perivascular epithelioid cell tumor (PEComa) in the transverse colon of an adolescent: a case report. (17455882)
2007
41
Perivascular epithelioid cell tumor (PEComa) of the kidney: MR features. (17066289)
2007
42
Perivascular epithelioid cell tumor (PEComa) of the liver: a case report and review of the literature]. (17370472)
2007
43
Perivascular epithelioid cell tumor of the uterus: report of three cases. (17439750)
2007
44
Perivascular epithelioid cell tumor of the uterus: a case report. (17285843)
2006
45
Perivascular epithelioid cell tumor of the uterus: report of four cases. (16175079)
2005
46
First description of a PEComa (perivascular epithelioid cell tumor) of the colon: report of a case and review of the literature. (15540307)
2004
47
Malignant perivascular epithelioid cell tumor (PEComa) arising in the broad ligament. (15361222)
2004
48
Recurrent perivascular epithelioid cell tumor of the uterus (PEComa): an immunohistochemical study and review of the literature. (13678746)
2003
49
Malignant perivascular epithelioid cell tumor involving the prostate. (12562263)
2003
50
Perivascular epithelioid cell tumor ('PEComa') of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with an uncertain relationship to pure smooth muscle tumors. (11756764)
2002

Genetic Variations for Perivascular Epithelioid Cell Tumor

Expression for genes affiliated with Perivascular Epithelioid Cell Tumor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Perivascular Epithelioid Cell Tumor

Search GEO for disease gene expression data for Perivascular Epithelioid Cell Tumor.

Pathways for genes affiliated with Perivascular Epithelioid Cell Tumor

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 12EMD Millipore, 53R&D Systems, 4Cell Signaling Technology, 30KEGG
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Pathways related to Perivascular Epithelioid Cell Tumor according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1TSC1, TSC2
29.8CDKN2A, TSC1, TSC2
39.6TSC2, TSC1, RHEB
4
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9.6TSC2, TSC1, RHEB
5
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9.6RHEB, TSC1, TSC2
6
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9.6TSC2, KIT, KITLG, S100B
7
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9.5NTRK3, RHEB, KITLG
89.4NTRK3, RHEB, TSC2, TSC1
99.3ACTC1, DES, CALD1, VIM
10
Hide members
9.3ACTC1, DES, VIM, CALD1
11
Hide members
9.2CCL26, NTRK3, KITLG, KIT, TSC1, TSC2
129.2RHEB, KITLG, TSC1, TSC2, KIT
13
Hide members
9.1TSC1, VIM, NTRK3, TSC2, KIT, KITLG
14
Hide members
8.7RHEB, VIM, CCL26, DES, NTRK3, TSC1

Compounds for genes affiliated with Perivascular Epithelioid Cell Tumor

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Perivascular Epithelioid Cell Tumor according to GeneCards/GeneDecks:

(show top 50)    (show all 78)
idCompoundScoreTop Affiliating Genes
1paclitaxel45 50 1112.1CDKN2A, S100B
2monochloroacetic acid4510.1KIT, VIM, KITLG
3eosin4510.1MUC1, VIM, S100B
4orcein4510.0S100B, DES, ACTC1, VIM
52-methoxyethanol4510.0ACTC1, S100A1, VIM
6creatinine4510.0CDKN2A, SYP, KITLG, ACTC1
7dexamethasone45 50 29 1112.9S100B, CDKN2A, KITLG
8glycogen45 2410.9SYP, KIT, ACTC1, TSC1, TSC2
9acetylcholine45 50 29 11 2413.9SYP, S100A1
10guanosine45 11 2411.8TSC2, TSC1, CDKN2A, VIM
11s 100459.6VIM, S100B, DES, SYP, MUC1, ACTC1
12reticulin459.6VIM, S100B, SYP, DES, MUC1, ACTC1
13toluidine459.6KIT, KITLG, DES, VIM, S100A1
14agarose459.5S100B, MUC1, CDKN2A, KITLG, KIT
15cytarabine45 50 1111.5KITLG, MUC1, VIM, KIT, CDKN2A
16actomyosin459.5S100A1, CALD1, VIM, ACTC1
17adriamycin459.5VIM, CDKN2A, MUC1, DES
18imatinib45 50 1111.5NTRK3, KITLG, KIT, ACTC1, DES, S100B
19ethanol45 50 11 2412.5MUC1, DES, S100B, KITLG, SYP
20steroid459.4MLANA, DES, CDKN2A, SYP, TSC2, ACTC1
21gold459.4DES, MUC1, CDKN2A, KIT, KITLG, SYP
22bromodeoxyuridine459.4VIM, S100B, DES, KITLG
23methotrexate45 50 1111.4KIT, CDKN2A, MUC1, VIM, KITLG
24silver459.4CDKN2A, PMEL, S100A1, DES, SYP
25formaldehyde45 2410.4ACTC1, KIT, MUC1, SYP, DES, S100B
26estradiol45 11 2411.3SYP, DES, VIM, KITLG, MUC1
27mucicarmine459.3SYP, DES, S100A1, S100B, VIM, MUC1
28b 723459.3VIM, S100B, S100A1, MUC1, ACTC1, DES
29actinomycin d459.3DES, CDKN2A, VIM, KITLG, KIT, MUC1
30cyclic amp45 2410.2S100B, CDKN2A, MUC1, SYP, VIM, DES
31lactate459.1VIM, S100B, KITLG, MLANA, KIT, DES
32biotin45 11 2411.1ACTC1, MUC1, DES, S100A1, VIM, KITLG
33rapamycin459.1KITLG, TSC2, TSC1, KIT, CCL26, VIM
34leucine459.1TSC2, S100B, SYP, VIM, TFE3, CDKN2A
35iron45 2410.1CDKN2A, KITLG, ACTC1, VIM, DES, S100B
36oxygen45 2410.0KITLG, TSC2, MUC1, DES, S100B, CCL26
37threonine458.9MUC1, CDKN2A, KIT, TSC1, TSC2, S100B
38doxorubicin45 50 1110.9DES, CDKN2A, KITLG, VIM, KIT
39nitric oxide45 11 2410.8DES, SYP, MUC1, CDKN2A, KITLG, KIT
40glucose458.8ACTC1, KITLG, CDKN2A, MUC1, RHEB, TFE3
41progesterone45 60 29 11 2412.7CDKN2A, VIM, S100B, S100A1, DES, SYP
42cysteine458.7CDKN2A, MUC1, SYP, S100A1, DES, KIT
43hematoxylin458.4ACTC1, KIT, S100B, S100A1, MLANA, DES
44testosterone45 60 11 2411.3MUC1, S100B, CDKN2A, NTRK3, SYP, DES
45tyrosine458.3TSC1, TSC2, S100A1, ACTC1, SYP, DES
46retinoic acid45 249.2KIT, ACTC1, KITLG, CDKN2A, MUC1, NTRK3
47vegf458.2MUC1, NTRK3, KITLG, SYP, DES, S100B
48serine458.1SYP, MUC1, VIM, TSC2, TSC1, KIT
49calcium45 50 11 2410.9CCL26, SYP, ACTC1, KIT, KITLG, CALD1
50paraffin457.7VIM, S100A1, MLANA, DES, S100B, SYP

GO Terms for genes affiliated with Perivascular Epithelioid Cell Tumor

Sources:
16Gene Ontology
See all sources

Cellular components related to Perivascular Epithelioid Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.1TSC2, TSC1
2intermediate filamentGO:0058829.8SYNM, DES, VIM
3protein complexGO:0432349.3S100A1, SYP, CDKN2A, TSC1
4cytoplasmGO:0057377.5VIM, S100B, TFE3, NTRK3, MUC1, CDKN2A

Biological processes related to Perivascular Epithelioid Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.1TSC2, TSC1
2muscle filament slidingGO:0300499.7VIM, DES, ACTC1
3germ cell programmed cell deathGO:0352349.7KIT, KITLG
4cell cycle arrestGO:0070509.3TSC2, TSC1, CDKN2A, RHEB

Molecular functions related to Perivascular Epithelioid Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.8SYNM, DES, VIM
2p53 bindingGO:0020399.7CDKN2A, MUC1, NTRK3
3S100 protein bindingGO:0445489.6S100A1, S100B
4identical protein bindingGO:0428029.1VIM, S100B, S100A1, DES, SYP
5protein bindingGO:0055156.7TSC2, PMEL, VIM, S100B, S100A1, MLANA

Products for genes affiliated with Perivascular Epithelioid Cell Tumor

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Sources for Perivascular Epithelioid Cell Tumor

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet