MCID: UTR029
MIFTS: 26

Uterus Perivascular Epithelioid Cell Tumor

Categories: Cancer diseases, Cardiovascular diseases, Reproductive diseases

Aliases & Classifications for Uterus Perivascular Epithelioid Cell Tumor

MalaCards integrated aliases for Uterus Perivascular Epithelioid Cell Tumor:

Name: Uterus Perivascular Epithelioid Cell Tumor 12 15
Uterine Corpus Pecoma 12 71

Classifications:



External Ids:

Disease Ontology 12 DOID:7437
NCIt 49 C40180
UMLS 71 C1519862

Summaries for Uterus Perivascular Epithelioid Cell Tumor

Disease Ontology : 12 A perivascular epithelioid cell tumor that is located in the uterus.

MalaCards based summary : Uterus Perivascular Epithelioid Cell Tumor, also known as uterine corpus pecoma, is related to perivascular epithelioid cell tumor and clear cell papillary renal cell carcinoma. An important gene associated with Uterus Perivascular Epithelioid Cell Tumor is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways are Angiopoietin Like Protein 8 Regulatory Pathway and mTOR signaling pathway (KEGG). Affiliated tissues include uterus, kidney and heart, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Uterus Perivascular Epithelioid Cell Tumor

Diseases related to Uterus Perivascular Epithelioid Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 76, show less)
# Related Disease Score Top Affiliating Genes
1 perivascular epithelioid cell tumor 28.9 TSC2 TFE3 MLANA MITF CALD1
2 clear cell papillary renal cell carcinoma 10.2 TFE3 MITF
3 childhood kidney cell carcinoma 10.2 TFE3 MITF
4 conventional leiomyosarcoma 10.2 MITF CALD1
5 autosomal dominant non-syndromic intellectual disability 19 10.1 TFE3 MITF
6 waardenburg syndrome, type 2c 10.1 TFE3 MITF
7 albinism, ocular, with late-onset sensorineural deafness 10.1 TFE3 MITF
8 glomangiosarcoma 10.1 MLANA CALD1
9 ovarian melanoma 10.1 MLANA CALD1
10 waardenburg syndrome, type 2a 10.1 TFE3 MITF
11 vagina leiomyosarcoma 10.1 MLANA CALD1
12 benign perivascular tumor 10.1 MLANA CALD1
13 small intestine leiomyoma 10.1 MLANA CALD1
14 intravascular fasciitis 10.1 MLANA CALD1
15 sarcomatoid squamous cell skin carcinoma 10.1 MLANA CALD1
16 myxosarcoma 10.1 MLANA CALD1
17 vaginal endometrial stromal sarcoma 10.0 MLANA CALD1
18 retroperitoneal sarcoma 10.0 MLANA CALD1
19 infiltrating angiolipoma 10.0 MLANA CALD1
20 epithelial predominant wilms' tumor 10.0 TFE3 MLANA
21 vagina sarcoma 10.0 MLANA CALD1
22 glomangiomatosis 10.0 MLANA CALD1
23 cervical mucinous adenocarcinoma 10.0 MLANA CALD1
24 uterus leiomyosarcoma 10.0 MLANA CALD1
25 lentigo maligna melanoma 10.0 MLANA MITF
26 malignant choroid melanoma 10.0 MLANA MITF
27 epithelioid cell melanoma 9.9 MLANA MITF
28 pigmented basal cell carcinoma 9.9 MLANA MITF
29 chondrosarcoma, extraskeletal myxoid 9.9 TFE3 CALD1
30 fallopian tube leiomyoma 9.9 TSC2 CALD1
31 fallopian tube benign neoplasm 9.9 TSC2 CALD1
32 gallbladder melanoma 9.9 MLANA MITF
33 mesenchymal cell neoplasm 9.9 MLANA CALD1
34 malignant spindle cell melanoma 9.9 MLANA MITF
35 lissencephaly with cerebellar hypoplasia 9.9 TSC2 TSC1
36 nodular malignant melanoma 9.9 MLANA MITF
37 cutaneous fibrous histiocytoma 9.9 MLANA MITF
38 pycnodysostosis 9.9 TFE3 MITF CTSK
39 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8 TSC2 TSC1
40 adult mesoblastic nephroma 9.8 TFE3 MLANA CALD1
41 heart cancer 9.8 TSC2 TSC1
42 amelanotic melanoma 9.8 MLANA MITF
43 muscle cancer 9.8 TFE3 MLANA CALD1
44 osteopetrosis 9.8 TFE3 MITF CTSK
45 obstructive hydrocephalus 9.8 TSC2 TSC1
46 focal cortical dysplasia, type ii 9.8 TSC2 TSC1
47 corneal dystrophy, fleck 9.8 TSC2 TSC1
48 subependymal giant cell astrocytoma 9.7 TSC2 TSC1
49 polycystic liver disease 1 with or without kidney cysts 9.7 TSC2 TSC1
50 clear cell sarcoma 9.7 TFE3 MLANA MITF
51 benign ependymoma 9.7 TSC2 TSC1
52 dermis tumor 9.7 MLANA MITF CALD1
53 proteus syndrome 9.7 TSC2 TSC1
54 central nervous system benign neoplasm 9.7 TSC2 TSC1
55 uterine benign neoplasm 9.7 TSC2 CALD1
56 connective tissue benign neoplasm 9.6 TSC2 TSC1 CALD1
57 reproductive organ benign neoplasm 9.6 TSC2 CALD1
58 respiratory system benign neoplasm 9.6 TSC2 MLANA
59 subependymal glioma 9.5 TSC2 TSC1 RPS6KB1
60 tuberous sclerosis 1 9.5 TSC2 TSC1 RPS6KB1
61 tuberous sclerosis 2 9.5 TSC2 TSC1 RPS6KB1
62 aortic disease 9.5 TSC2 TSC1 RPS6KB1
63 spinal cord disease 9.5 TSC2 TSC1
64 cowden syndrome 9.5 TSC2 TSC1 RPS6KB1
65 ocular albinism 9.4 MLANA MITF
66 microphthalmia 9.3 TFE3 MLANA MITF CTSK
67 hepatic angiomyolipoma 9.2 TSC2 TSC1 TFE3 MLANA
68 lymphangioleiomyomatosis 9.2 TSC2 TSC1 RPS6KB1 CTSK
69 cell type benign neoplasm 9.2 TSC2 TSC1 MLANA CALD1
70 renal cell carcinoma, nonpapillary 9.1 TSC2 TSC1 TFE3 MITF
71 kidney angiomyolipoma 9.1 TSC2 TSC1 RPS6KB1 MLANA
72 tuberous sclerosis 9.0 TSC2 TSC1 RPS6KB1 MLANA
73 cardiovascular cancer 8.8 TSC2 TFE3 MLANA MITF CALD1
74 vascular cancer 8.8 TSC2 TFE3 MLANA MITF CALD1
75 kidney benign neoplasm 8.8 TSC2 TSC1 TFE3 RPS6KB1 MLANA
76 angiomyolipoma 8.4 TSC2 TSC1 TFE3 RPS6KB1 MLANA MITF

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



Diseases related to Uterus Perivascular Epithelioid Cell Tumor

Symptoms & Phenotypes for Uterus Perivascular Epithelioid Cell Tumor

GenomeRNAi Phenotypes related to Uterus Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

26 (showing 13, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.5 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 MITF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.5 MITF TSC1 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.5 TSC2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.5 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.5 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.5 MITF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.5 TSC2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 MITF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 TSC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.5 TSC1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.5 TSC2

MGI Mouse Phenotypes related to Uterus Perivascular Epithelioid Cell Tumor:

45 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 MITF MLANA TFE3 TSC1 TSC2
2 pigmentation MP:0001186 8.92 MITF MLANA TFE3 TSC1

Drugs & Therapeutics for Uterus Perivascular Epithelioid Cell Tumor

Search Clinical Trials , NIH Clinical Center for Uterus Perivascular Epithelioid Cell Tumor

Genetic Tests for Uterus Perivascular Epithelioid Cell Tumor

Anatomical Context for Uterus Perivascular Epithelioid Cell Tumor

The Foundational Model of Anatomy Ontology organs/tissues related to Uterus Perivascular Epithelioid Cell Tumor:

19
Uterus

MalaCards organs/tissues related to Uterus Perivascular Epithelioid Cell Tumor:

40
Uterus, Kidney, Heart, Spinal Cord, Small Intestine, Liver, Skin

Publications for Uterus Perivascular Epithelioid Cell Tumor

Variations for Uterus Perivascular Epithelioid Cell Tumor

Expression for Uterus Perivascular Epithelioid Cell Tumor

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

Pathways for Uterus Perivascular Epithelioid Cell Tumor

Pathways related to Uterus Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

(showing 21, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.23 TSC2 TSC1 RPS6KB1
2
Show member pathways
12.2 TSC2 TSC1 RPS6KB1
3
Show member pathways
12.13 TSC2 TSC1 RPS6KB1
4
Show member pathways
12.1 TSC2 TSC1 RPS6KB1
5
Show member pathways
12.08 TSC2 TSC1 RPS6KB1
6
Show member pathways
12.05 TSC2 TSC1 RPS6KB1
7
Show member pathways
12.05 TSC2 TSC1 RPS6KB1 MITF
8
Show member pathways
11.94 TSC2 TSC1 RPS6KB1
9
Show member pathways
11.93 TSC2 TSC1 RPS6KB1
10 11.89 TSC2 TSC1 RPS6KB1
11
Show member pathways
11.82 TSC2 TSC1 RPS6KB1
12
Show member pathways
11.72 TSC2 TSC1 RPS6KB1
13 11.63 TSC2 TSC1 RPS6KB1
14 11.48 TSC2 TSC1 RPS6KB1
15 11.41 TFE3 MITF
16 11.32 TSC2 TSC1
17 11.26 TSC2 TSC1
18 11.17 TSC2 TSC1
19 10.91 TSC2 RPS6KB1
20 10.91 TSC2 TSC1 RPS6KB1
21 10.32 TSC2 TSC1 RPS6KB1

GO Terms for Uterus Perivascular Epithelioid Cell Tumor

Cellular components related to Uterus Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC2 TSC1

Biological processes related to Uterus Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 protein kinase B signaling GO:0043491 9.32 TSC2 RPS6KB1
2 positive regulation of macroautophagy GO:0016239 9.26 TSC2 TSC1
3 negative regulation of TOR signaling GO:0032007 9.16 TSC2 TSC1
4 regulation of osteoclast differentiation GO:0045670 8.96 TFE3 MITF
5 negative regulation of insulin receptor signaling pathway GO:0046627 8.8 TSC2 TSC1 RPS6KB1

Molecular functions related to Uterus Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 Hsp90 protein binding GO:0051879 8.62 TSC2 TSC1

Sources for Uterus Perivascular Epithelioid Cell Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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