MCID: EPT001
MIFTS: 26

Epithelioid Cell Melanoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Epithelioid Cell Melanoma

MalaCards integrated aliases for Epithelioid Cell Melanoma:

Name: Epithelioid Cell Melanoma 12 15 73
Epithelioid Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4360
NCIt 50 C4236
SNOMED-CT 68 37138001
UMLS 73 C0334443

Summaries for Epithelioid Cell Melanoma

MalaCards based summary : Epithelioid Cell Melanoma, also known as epithelioid melanoma, is related to choroid epithelioid cell melanoma and ciliary body epithelioid cell melanoma. An important gene associated with Epithelioid Cell Melanoma is MITF (Melanocyte Inducing Transcription Factor), and among its related pathways/superpathways is Melanocyte Development and Pigmentation. Affiliated tissues include skin, kidney and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Epithelioid Cell Melanoma

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 choroid epithelioid cell melanoma 12.3
2 ciliary body epithelioid cell melanoma 12.3
3 uveal epithelioid cell melanoma 12.2
4 albinism, ocular, with late-onset sensorineural deafness 10.2 MITF TYR
5 albinism, ocular, with sensorineural deafness 10.2 MITF TYR
6 hypomelanosis of ito 10.2 MITF TYR
7 malignant spindle cell melanoma 10.2 MITF TYR
8 vitiligo-associated multiple autoimmune disease susceptibility 6 10.2 MITF TYR
9 tietz albinism-deafness syndrome 10.2 MITF TYR
10 hermansky-pudlak syndrome 3 10.2 MITF TYR
11 waardenburg syndrome, type 2a 10.2 MITF TYR
12 pycnodysostosis 10.2 CTSK MITF
13 albinism, oculocutaneous, type iv 10.2 MITF TYR
14 waardenburg syndrome, type 1 10.2 MITF TYR
15 cutaneous ganglioneuroma 10.1 ENO2 MITF
16 dyschromatosis symmetrica hereditaria 10.1 MITF TYR
17 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 MITF TYR
18 angiomyolipoma 10.1 MITF TYR
19 dowling-degos disease 1 10.1 MITF RBP1 TYR
20 kidney rhabdoid cancer 10.1 ENO2 WT1
21 rhabdoid cancer 10.1 ENO2 WT1
22 cauda equina neoplasm 10.1 ENO2 WT1
23 skin melanoma 10.1 MCAM MITF TYR
24 desmoplastic small round cell tumor 10.1 ENO2 WT1
25 ocular albinism 10.1 MITF TYR
26 melanocytic nevus syndrome, congenital 10.1 PRKAR1A TYR
27 kidney clear cell sarcoma 10.1 ENO2 WT1
28 uterine sarcoma 10.1 MCAM WT1
29 heart sarcoma 10.1 ENO2 WT1
30 bone ewing's sarcoma 10.1 ENO2 WT1
31 male reproductive organ benign neoplasm 10.0 PRKAR1A WT1
32 gallbladder melanoma 10.0 MITF MLANA
33 dysgerminoma of ovary 10.0 ENO2 WT1
34 lentigo maligna melanoma 10.0 MITF MLANA
35 sertoli cell tumor 10.0 PRKAR1A WT1
36 dysgerminoma 10.0 ENO2 WT1
37 chondrosarcoma, extraskeletal myxoid 10.0 ENO2 WT1
38 halo nevi 10.0 MLANA TYR
39 melanoacanthoma 10.0 MLANA TYR
40 piebald trait 10.0 MITF TYR
41 diffuse meningeal melanocytosis 10.0 MLANA TYR
42 sarcomatoid squamous cell skin carcinoma 10.0 MITF MLANA
43 vulvar melanoma 10.0 MLANA TYR
44 malignant skin fibrous histiocytoma 10.0 MLANA TYR
45 clear cell sarcoma 10.0 ENO2 MITF WT1
46 malignant dermis tumor 10.0 MLANA TYR
47 muscle cancer 10.0 ENO2 WT1
48 spindle cell liposarcoma 10.0 MLANA WT1
49 meningeal melanocytoma 9.9 ENO2 MLANA
50 pigmented basal cell carcinoma 9.9 MITF MLANA TYR

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



Diseases related to Epithelioid Cell Melanoma

Symptoms & Phenotypes for Epithelioid Cell Melanoma

MGI Mouse Phenotypes related to Epithelioid Cell Melanoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 CTSK ENO2 MITF PRKAR1A RBP1 TYR
2 homeostasis/metabolism MP:0005376 9.86 CTSK LGALS3BP MCAM MITF PRKAR1A RBP1
3 endocrine/exocrine gland MP:0005379 9.85 CTSK MITF PRKAR1A RBP1 TYR WT1
4 craniofacial MP:0005382 9.8 CTSK ENO2 MITF PRKAR1A TYR
5 immune system MP:0005387 9.76 CTSK LGALS3BP MCAM MITF PRKAR1A RBP1
6 no phenotypic analysis MP:0003012 9.35 MCAM MITF MLANA TYR WT1
7 pigmentation MP:0001186 9.02 MITF MLANA PRKAR1A RBP1 TYR

Drugs & Therapeutics for Epithelioid Cell Melanoma

Search Clinical Trials , NIH Clinical Center for Epithelioid Cell Melanoma

Genetic Tests for Epithelioid Cell Melanoma

Anatomical Context for Epithelioid Cell Melanoma

MalaCards organs/tissues related to Epithelioid Cell Melanoma:

41
Skin, Kidney, Bone, Heart, Breast, Ovary

Publications for Epithelioid Cell Melanoma

Articles related to Epithelioid Cell Melanoma:

# Title Authors Year
1
Heavily Pigmented Epithelioid Melanoma With Loss of Protein Kinase A Regulatory Subunit-α Expression. ( 29771690 )
2018
2
Epithelioid melanoma of the rectum: reappraisal of a deceptive microscopic simulator. ( 20952303 )
2011
3
Proton-beam irradiated epithelioid cell melanoma of the ciliary body. ( 6275325 )
1981

Variations for Epithelioid Cell Melanoma

Expression for Epithelioid Cell Melanoma

Search GEO for disease gene expression data for Epithelioid Cell Melanoma.

Pathways for Epithelioid Cell Melanoma

Pathways related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.24 MITF PRKAR1A

GO Terms for Epithelioid Cell Melanoma

Biological processes related to Epithelioid Cell Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 8.96 MITF WT1
2 pigmentation GO:0043473 8.62 MITF TYR

Sources for Epithelioid Cell Melanoma

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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