MCID: MLG038
MIFTS: 25

Malignant Anus Melanoma

Categories: Gastrointestinal diseases, Cancer diseases, Skin diseases

Aliases & Classifications for Malignant Anus Melanoma

MalaCards integrated aliases for Malignant Anus Melanoma:

Name: Malignant Anus Melanoma 12 15
Malignant Melanoma of Anus 12 73
Anal Melanoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:14145
NCIt 50 C4639
SNOMED-CT 68 276821000
UMLS 73 C0349538

Summaries for Malignant Anus Melanoma

MalaCards based summary : Malignant Anus Melanoma, also known as malignant melanoma of anus, is related to small intestine leiomyosarcoma and small intestinal sarcoma. An important gene associated with Malignant Anus Melanoma is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways is NF-kappaB Signaling. The drugs Cyclophosphamide and Alkylating Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, and related phenotypes are Increased senescence-associated beta-galactosidase protein expression after pRB stimulation and pigmentation

Related Diseases for Malignant Anus Melanoma

Graphical network of the top 20 diseases related to Malignant Anus Melanoma:



Diseases related to Malignant Anus Melanoma

Symptoms & Phenotypes for Malignant Anus Melanoma

GenomeRNAi Phenotypes related to Malignant Anus Melanoma according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased senescence-associated beta-galactosidase protein expression after pRB stimulation GR00230-A-2 8.62 HCK KIT

MGI Mouse Phenotypes related to Malignant Anus Melanoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 ADAM17 KIT MLANA

Drugs & Therapeutics for Malignant Anus Melanoma

Drugs for Malignant Anus Melanoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
2 Alkylating Agents Phase 1
3 Antineoplastic Agents, Alkylating Phase 1
4 Antirheumatic Agents Phase 1
5 Imatinib Mesylate Phase 1 220127-57-1 123596
6 Immunosuppressive Agents Phase 1
7 Protein Kinase Inhibitors Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate And Cyclophosphamide In Metronomic Administration: Dose Escalation Study Of Imatinib Mesylate Completed NCT01046487 Phase 1 Imatinib mesylate, Cyclophosphamide (Dosing level 1 );Imatinib mesylate, Cyclophosphamide (Dosing level 2);Imatinib mesylate, Cyclophosphamide (Dosing level 3)

Search NIH Clinical Center for Malignant Anus Melanoma

Genetic Tests for Malignant Anus Melanoma

Anatomical Context for Malignant Anus Melanoma

MalaCards organs/tissues related to Malignant Anus Melanoma:

41
Colon

Publications for Malignant Anus Melanoma

Articles related to Malignant Anus Melanoma:

# Title Authors Year
1
Anal Melanoma in an Elderly Woman Masquerading as Hemorrhoid. ( 29387509 )
2017
2
SYNCHRONOUS ANAL MELANOMA AND COLON ADENOCARCINOMA: CASE REPORT AND REVIEW OF DIAGNOSIS AND MANAGEMENT. ( 28076491 )
2016
3
L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. ( 17372901 )
2007

Variations for Malignant Anus Melanoma

Expression for Malignant Anus Melanoma

Search GEO for disease gene expression data for Malignant Anus Melanoma.

Pathways for Malignant Anus Melanoma

Pathways related to Malignant Anus Melanoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.31 HCK KIT MLANA

GO Terms for Malignant Anus Melanoma

Biological processes related to Malignant Anus Melanoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.13 ADAM17 HCK KIT
2 cell chemotaxis GO:0060326 8.62 CCL27 KIT

Sources for Malignant Anus 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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