MCID: UTR029
MIFTS: 24

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, 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:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 perivascular epithelioid cell tumor 28.7 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 albinism, ocular, with late-onset sensorineural deafness 10.1 TFE3 MITF
7 waardenburg syndrome, type 2c 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 vagina sarcoma 10.0 MLANA CALD1
21 epithelial predominant wilms' tumor 10.0 TFE3 MLANA
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 adult hepatocellular carcinoma 9.9 TSC2 TSC1
35 malignant spindle cell melanoma 9.9 MLANA MITF
36 lissencephaly with cerebellar hypoplasia 9.9 TSC2 TSC1
37 nodular malignant melanoma 9.9 MLANA MITF
38 pycnodysostosis 9.9 TFE3 MITF CTSK
39 cutaneous fibrous histiocytoma 9.9 MLANA MITF
40 adult mesoblastic nephroma 9.8 TFE3 MLANA CALD1
41 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.8 TSC2 TSC1
42 amelanotic melanoma 9.8 MLANA MITF
43 heart cancer 9.8 TSC2 TSC1
44 muscle cancer 9.8 TFE3 MLANA CALD1
45 osteopetrosis 9.8 TFE3 MITF CTSK
46 obstructive hydrocephalus 9.8 TSC2 TSC1
47 focal cortical dysplasia, type ii 9.8 TSC2 TSC1
48 corneal dystrophy, fleck 9.8 TSC2 TSC1
49 subependymal giant cell astrocytoma 9.7 TSC2 TSC1
50 polycystic liver disease 1 with or without kidney cysts 9.7 TSC2 TSC1

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 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.47 TSC2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.47 MITF
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.47 MITF TSC1 TSC2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.47 MITF
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.47 TSC2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.47 MITF
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.47 TSC2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.47 MITF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.47 MITF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.47 TSC1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.47 TSC1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.47 TSC2

MGI Mouse Phenotypes related to Uterus Perivascular Epithelioid Cell Tumor:

45
# 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

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:

(show all 21)
# 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:

# 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:

# 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:

# 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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