CMM
MCID: MLG108
MIFTS: 60

Malignant Melanoma, Somatic (CMM) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases

Aliases & Classifications for Malignant Melanoma, Somatic

Aliases & Descriptions for Malignant Melanoma, Somatic:

Name: Malignant Melanoma, Somatic 54 24
Familial Melanoma 12 56 14
Dysplastic Nevus Syndrome 24 69
Cutaneous Melanoma 24 69
Familial Atypical Multiple Mole Melanoma Syndrome 24
Familial Atypical Mole Melanoma Syndrome 69
Melanoma, Cutaneous Malignant, 1 13
Cutaneous Malignant Melanoma 1 29
Cutaneous Malignant Melanoma 24
Melanoma, Malignant, Somatic 13
Hereditary Melanoma 69
Melanoma, Familial 50
Melanoma 69
Fammm 24
Cmm 24

Characteristics:

Orphanet epidemiological data:

56
familial melanoma
Inheritance: Autosomal dominant,Multigenic/multifactorial; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

HPO:

32
malignant melanoma, somatic:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 155600
Disease Ontology 12 DOID:6846
NCIt 47 C8498
Orphanet 56 ORPHA618
UMLS 69 C1512419

Summaries for Malignant Melanoma, Somatic

OMIM : 54 Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but... (155600) more...

MalaCards based summary : Malignant Melanoma, Somatic, also known as familial melanoma, is related to cdk4-related cutaneous malignant melanoma and cdkn2a-related cutaneous malignant melanoma, and has symptoms including abnormality of extrapyramidal motor function, dry skin and retinopathy. An important gene associated with Malignant Melanoma, Somatic is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are ERK Signaling and Cell Cycle, Mitotic. The drugs Mekinist and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are Decreased viability and cellular

Related Diseases for Malignant Melanoma, Somatic

Diseases related to Malignant Melanoma, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
id Related Disease Score Top Affiliating Genes
1 cdk4-related cutaneous malignant melanoma 12.0
2 cdkn2a-related cutaneous malignant melanoma 12.0
3 pot1-related susceptibility to cutaneous malignant melanoma 12.0
4 melanoma, cutaneous malignant 8 11.6
5 melanoma, cutaneous malignant, 6 11.6
6 mirror movements 1 11.6
7 melanoma, cutaneous malignant, 2 11.6
8 skin melanoma 11.5
9 melanoma, cutaneous malignant, 9 11.1
10 melanoma, cutaneous malignant, 5 11.1
11 dysplastic nevus syndrome 10.7
12 melanoma 10.5
13 parotid gland adenoid cystic carcinoma 10.4 KIT NRAS PTEN
14 vulval paget's disease 10.4 CDKN2A KIT NRAS
15 verrucous papilloma 10.4 KIT MITF NRAS
16 angioma hereditary neurocutaneous 10.4 CDKN2A MGMT POT1
17 neurocutaneous melanosis, somatic 10.4 MC1R NRAS STK11
18 monostotic fibrous dysplasia 10.4 BRAF CDKN2A PTEN
19 ossifying fibromyxoid tumor 10.4 CDK4 CDKN2A NRAS
20 stomach diverticulosis 10.4 BRAF KIT TYRP1
21 extranodal nasal nk/t cell lymphoma 10.4 CDK4 CDKN2A CDKN2B KIT
22 nelson syndrome 10.4 CDKN2A KIT NRAS
23 well-differentiated thymic neuroendocrine carcinoma 10.4 BAP1 BRAF
24 multifocal osteogenic sarcoma 10.4 CDK4 CDKN2A KIT
25 epidermolysis bullosa simplex, recessive 1 10.4 KIT MITF STK11 TYRP1
26 facial hemiatrophy 10.4 BAP1 CDKN2A KIT MC1R NRAS
27 alpha chain disease 10.4 CDKN2A KIT MC1R MITF NRAS
28 adult oligodendroglioma 10.4 CDKN2A MGMT POT1 PTEN
29 lung mucoepidermoid carcinoma 10.4 BRAF KIT MITF NRAS TERT
30 lattice corneal dystrophy 10.4 BRAF CDKN2A CDKN2B MITF NRAS
31 interstitial lung disease 10.4 CDK4 CDKN2A CDKN2B MGMT PTEN
32 thoracic outlet syndrome 10.4 CDK4 CDK6 CDKN2A CDKN2B
33 acute disseminated encephalomyelitis 10.4 BRAF CDKN2A KIT NRAS PTEN TERT
34 placenta praevia 10.4 CDK4 CDKN2A CDKN2B TERT
35 grade iii astrocytoma 10.4 CDK4 CDKN2A CDKN2B MGMT PTEN
36 glucosephosphate isomerase deficiency 10.4 CDK4 CDK6 CDKN2A PTEN
37 extraocular retinoblastoma 10.4 CDK4 CDK6 CDKN2A
38 glomeruloid hemangioma 10.4 BRAF CDK4 CDKN2A MGMT NRAS PTEN
39 glucose-6-phosphate translocase deficiency 10.4 CDK4 CDK6 CDKN2A MGMT PTEN
40 adult astrocytic tumour 10.4 CDK4 CDK6 CDKN2A MGMT PTEN
41 hypogonadotropic hypogonadism 20 with or without anosmia 10.4 CDK4 CDK6 CDKN2A PTEN
42 pulmonary immaturity 10.4 CDK4 KIT MITF
43 malignant pleural solitary fibrous tumor 10.4 CDK4 CDKN2A KIT MGMT MITF NRAS
44 integumentary system benign neoplasm 10.4 CDK4 CDK6 CDKN2A
45 marginal zone b-cell lymphoma 10.4 CDKN2A MGMT PTEN
46 sex cord-gonadal stromal tumor 10.4 BRAF CDK4 CDK6 CDKN2A MC1R MITF
47 nail disorder, nonsyndromic congenital, 3, 10.4 CDK4 CDKN2A CDKN2B PTEN TERT
48 phosphoserine phosphatase deficiency 10.3 CDK4 CDK6 CDKN2A CDKN2B
49 pediatric germ cell cancer 10.3 BAP1 BRAF CDK4 CDKN2A KIT MC1R
50 prostate cancer, hereditary, x-linked 1 10.3 KIT PTEN STK11

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



Diseases related to Malignant Melanoma, Somatic

Symptoms & Phenotypes for Malignant Melanoma, Somatic

Symptoms by clinical synopsis from OMIM:

155600

Clinical features from OMIM:

155600

Human phenotypes related to Malignant Melanoma, Somatic:

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of extrapyramidal motor function 56 32 Occasional (29-5%) HP:0002071
2 dry skin 56 32 Frequent (79-30%) HP:0000958
3 retinopathy 56 32 Occasional (29-5%) HP:0000488
4 nevus 56 32 Very frequent (99-80%) HP:0003764
5 abnormality of the lymphatic system 56 32 Frequent (79-30%) HP:0100763
6 melanoma 56 32 Very frequent (99-80%) HP:0002861
7 neoplasm of the pancreas 56 32 Occasional (29-5%) HP:0002894
8 abnormality of the hair 56 32 Frequent (79-30%) HP:0001595
9 neoplasm of the breast 56 32 Occasional (29-5%) HP:0100013
10 neoplasm of the stomach 56 32 Occasional (29-5%) HP:0006753
11 freckling 56 32 Frequent (79-30%) HP:0001480
12 abnormality of the eye 32 HP:0000478
13 cutaneous melanoma 32 HP:0012056
14 numerous nevi 32 HP:0001054
15 atypical nevus 32 HP:0001062
16 atypical nevi in non-sun exposed areas 32 HP:0001074
17 intraocular melanoma 32 HP:0007716

UMLS symptoms related to Malignant Melanoma, Somatic:


exanthema, pruritus

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.98 BRAF
2 Decreased viability GR00221-A-1 9.98 CDKN2A CDK6 KIT NRAS POT1 TERF2IP
3 Decreased viability GR00221-A-2 9.98 CDK6 TERF2IP
4 Decreased viability GR00221-A-3 9.98 CDKN2A NRAS POT1
5 Decreased viability GR00221-A-4 9.98 BRAF CDKN2A CDK6 POT1 TERF2IP
6 Decreased viability GR00301-A 9.98 BRAF KIT CDK6 CDKN2D
7 Decreased viability GR00381-A-1 9.98 BRAF
8 Decreased substrate adherent cell growth GR00193-A-1 9.56 KIT
9 Decreased substrate adherent cell growth GR00193-A-2 9.56 CDK4 KIT
10 Decreased substrate adherent cell growth GR00193-A-3 9.56 BRAF CDK4
11 Decreased substrate adherent cell growth GR00193-A-4 9.56 BRAF CDK4 KIT
12 Decreased cella89culturea89derived Hepatitis C virus (HCVcc GR00234-A-2 9.33 BRAF CDK4 STK11

MGI Mouse Phenotypes related to Malignant Melanoma, Somatic:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.53 CDK4 CDK6 CDKN2A CDKN2B CDKN2D KIT
2 growth/size/body region MP:0005378 10.46 PTEN STK11 TERF2IP TERT TYRP1 CDKN2D
3 endocrine/exocrine gland MP:0005379 10.44 ACD BAP1 BRAF CDK4 CDK6 CDKN2A
4 homeostasis/metabolism MP:0005376 10.43 STK11 TERF2IP TERT TYRP1 ACD BAP1
5 mortality/aging MP:0010768 10.41 BAP1 BRAF CDK4 CDK6 CDKN2A CDKN2B
6 behavior/neurological MP:0005386 10.38 PTEN STK11 TYRP1 ACD BRAF CDK4
7 immune system MP:0005387 10.36 BAP1 BRAF CDK4 CDK6 CDKN2A CDKN2B
8 hematopoietic system MP:0005397 10.35 BAP1 BRAF CDK4 CDK6 CDKN2A CDKN2B
9 integument MP:0010771 10.34 ACD BAP1 BRAF CDK4 CDKN2A CDKN2B
10 embryo MP:0005380 10.32 BAP1 BRAF CDK4 CDK6 CDKN2A STK11
11 neoplasm MP:0002006 10.31 CDK6 CDKN2A CDKN2B CDKN2D KIT MC1R
12 digestive/alimentary MP:0005381 10.28 ACD BAP1 BRAF CDK4 CDKN2A KIT
13 craniofacial MP:0005382 10.19 ACD BRAF KIT MC1R MITF NRAS
14 liver/biliary system MP:0005370 10.13 BRAF CDK4 CDK6 CDKN2A KIT NRAS
15 no phenotypic analysis MP:0003012 10.11 BAP1 CDKN2A CDKN2B KIT MC1R MGMT
16 hearing/vestibular/ear MP:0005377 10.09 ACD BRAF CDKN2D KIT MC1R MITF
17 muscle MP:0005369 10.09 CDKN2D KIT PTEN STK11 BAP1 BRAF
18 pigmentation MP:0001186 10.06 ACD BRAF CDK4 CDKN2A KIT MC1R
19 reproductive system MP:0005389 10.03 CDKN2A CDKN2B CDKN2D KIT MITF PTEN
20 renal/urinary system MP:0005367 9.8 ACD BRAF CDK4 CDKN2B KIT PTEN
21 respiratory system MP:0005388 9.61 BAP1 BRAF CDKN2A CDKN2D KIT MGMT
22 vision/eye MP:0005391 9.32 MITF NRAS PTEN STK11 TYRP1 BRAF

Drugs & Therapeutics for Malignant Melanoma, Somatic

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Mekinist 17 46 TRAMETINIB DIMETHYL SULFOXIDE GlaxoSmithKline Approved May of 2013

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

(show top 50) (show all 194)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Dermatologic Agents Phase 4
2
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1 33069-62-4 36314
3
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
4
Temozolomide Approved, Investigational Phase 3,Phase 2,Phase 1 85622-93-1 5394
5
Trametinib Approved Phase 3,Phase 2,Phase 1 871700-17-3 11707110
6
Melphalan Approved Phase 3 148-82-3 4053 460612
7
Peginterferon alfa-2b Approved Phase 3,Phase 2 99210-65-8, 215647-85-1
8
Aldesleukin Approved Phase 3,Phase 2,Phase 1 85898-30-2, 110942-02-4
9
Carboplatin Approved Phase 3,Phase 2 41575-94-4 10339178 498142 38904
10
Sorafenib Approved, Investigational Phase 3,Phase 2,Phase 1 284461-73-0 216239 406563
11
Mechlorethamine Approved Phase 3 51-75-2 4033
12
Cisplatin Approved Phase 3,Phase 1,Phase 2 15663-27-1 84093 441203 2767
13
Lenograstim Approved Phase 3,Phase 1 135968-09-1
14
Vinblastine Approved Phase 3,Phase 1,Phase 2 865-21-4 13342 241903
15
Pembrolizumab Approved Phase 3,Phase 1,Phase 2 1374853-91-4
16
Dabrafenib Approved Phase 3,Phase 1,Phase 2 44462760 44516822
17
nivolumab Approved Phase 2, Phase 3, Phase 1 946414-94-4
18
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
19
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
20
Xylometazoline Approved Phase 3 526-36-3 5709
21
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2,Phase 1 59-30-3 6037
22
Niacin Approved, Investigational, Nutraceutical Phase 3,Phase 2,Phase 1 59-67-6 938
23
Nicotinamide Approved, Nutraceutical Phase 3,Phase 2,Phase 1 98-92-0 936
24
Cholecalciferol Approved, Nutraceutical Phase 3 67-97-0 6221 10883523 5280795
25
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
26
Fotemustine Experimental Phase 3,Phase 2
27
Doxil Approved June 1999 Phase 3 31703
28 Adjuvants, Immunologic Phase 3,Phase 2,Phase 1
29
QS 21 Phase 3 141256-04-4
30 Vaccines Phase 3,Phase 2,Phase 1
31 Alkylating Agents Phase 3,Phase 2,Phase 1
32 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
33 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1
34 Antimitotic Agents Phase 3,Phase 2,Phase 1
35 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1
36 Micronutrients Phase 3,Phase 2,Phase 1
37 Protein Kinase Inhibitors Phase 3,Phase 2,Phase 1
38 Trace Elements Phase 3,Phase 2,Phase 1
39 Anti-Infective Agents Phase 3,Phase 2,Phase 1
40 Antiviral Agents Phase 3,Phase 2
41 Interferon-alpha Phase 3,Phase 2
42 interferons Phase 3,Phase 2,Phase 1
43 Immunosuppressive Agents Phase 3,Phase 2,Phase 1
44 Liver Extracts Phase 3,Phase 1
45 Freund's Adjuvant Phase 3,Phase 2,Phase 1
46 Analgesics Phase 3,Phase 2,Phase 1
47 Analgesics, Non-Narcotic Phase 3,Phase 2,Phase 1
48 Anti-HIV Agents Phase 3,Phase 2
49 Anti-Retroviral Agents Phase 3,Phase 2
50 Interleukin-2 Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 289)
id Name Status NCT ID Phase
1 Assessment and Tracking of Long-term Alefacept Safety Terminated NCT00454701 Phase 4
2 Vaccine Therapy in Treating Patients With Primary Stage II Melanoma Unknown status NCT00005052 Phase 3
3 Interferon Alfa-2b With or Without Radiation Therapy in Treating Patients With Melanoma That Has Metastasized to Lymph Nodes in the Neck, Under the Arm, or in the Groin Completed NCT00003444 Phase 3
4 Hepatic Arterial Infusion With Melphalan Compared With Standard Therapy in Treating Patients With Unresectable Liver Metastases Due to Melanoma Completed NCT00324727 Phase 3
5 PegIntron Versus IntronA in CMAJCC Stage II (EADO 2001/CMII Trial) Completed NCT00221702 Phase 3
6 Sargramostim and/or Vaccine Therapy in Preventing Disease Recurrence in Patients With Advanced Melanoma Completed NCT01989572 Phase 3
7 Aldesleukin With or Without Vaccine Therapy in Treating Patients With Locally Advanced or Metastatic Melanoma Completed NCT00019682 Phase 3
8 Carboplatin and Paclitaxel With or Without Sorafenib Tosylate in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed by Surgery Completed NCT00110019 Phase 3
9 Melphalan With or Without Tumor Necrosis Factor in Treating Patients With Locally Advanced Melanoma of the Arm or Leg Completed NCT00003789 Phase 3
10 MDX-010 Antibody, MDX-1379 Melanoma Vaccine, or MDX-010/MDX-1379 Combination Treatment for Patients With Unresectable or Metastatic Melanoma Completed NCT00094653 Phase 3
11 Combination Chemotherapy With or Without Interleukin-2 and Interferon Alfa in Treating Patients With Metastatic Melanoma Completed NCT00003027 Phase 3
12 PV-10 vs Chemotherapy or Oncolytic Viral Therapy for Treatment of Locally Advanced Cutaneous Melanoma Recruiting NCT02288897 Phase 3
13 MelmarT Melanoma Margins Trial Investigating 1cm v 2cm Wide Excision Margins for Primary Cutaneous Melanoma Recruiting NCT02385214 Phase 3
14 Access Study of Trametinib for Subjects With Advanced Unresectable (Stage IIIc) or Distant Metastatic (Stage IV) BRAF V600E/K Mutation Positive Cutaneous Melanoma Recruiting NCT02416232 Phase 3
15 Phase II/III Clinical Study CSF470 Plus BCG Plus GM-CSF vs IFN Alpha 2b in Stage IIB, IIC and III Melanoma Patients Recruiting NCT01729663 Phase 2, Phase 3
16 Nivolumab and Ipilimumab With or Without Sargramostim in Treating Patients With Stage III-IV Melanoma That Cannot Be Removed by Surgery Recruiting NCT02339571 Phase 2, Phase 3
17 High-Dose Recombinant Interferon Alfa-2B, Ipilimumab, or Pembrolizumab in Treating Patients With Stage III-IV High Risk Melanoma That Has Been Removed by Surgery Recruiting NCT02506153 Phase 3
18 Dabrafenib and Trametinib Followed by Ipilimumab and Nivolumab or Ipilimumab and Nivolumab Followed by Dabrafenib and Trametinib in Treating Patients With Stage III-IV BRAFV600 Melanoma Recruiting NCT02224781 Phase 3
19 Thymosin-α1 in Cancer-Related Fatigue Recruiting NCT02127268 Phase 3
20 A Study Of Avelumab Alone Or In Combination With Pegylated Liposomal Doxorubicin Versus Pegylated Liposomal Doxorubicin Alone In Patients With Platinum Resistant/Refractory Ovarian Cancer (JAVELIN Ovarian 200) Recruiting NCT02580058 Phase 3
21 A Study of Fotemustine(FTM) Vs FTM and Ipilimumab (IPI) or IPI and Nivolumab in Melanoma Brain Metastasis Recruiting NCT02460068 Phase 3
22 Vitamin D Supplementation in Cutaneous Malignant Melanoma Outcome Active, not recruiting NCT01748448 Phase 3
23 Dabrafenib Plus Trametinib vs Vemurafenib Alone in Unresectable or Metastatic BRAF V600E/K Cutaneous Melanoma Active, not recruiting NCT01597908 Phase 3
24 Adjuvant PEG Intron in Ulcerated Melanoma Active, not recruiting NCT01502696 Phase 3
25 A Study Comparing Trametinib and Dabrafenib Combination Therapy to Dabrafenib Monotherapy in Subjects With BRAF-mutant Melanoma Active, not recruiting NCT01584648 Phase 3
26 Study Comparing the Efficacy of MEK162 Versus Dacarbazine in Unresectable or Metastatic NRAS Mutation-positive Melanoma Active, not recruiting NCT01763164 Phase 3
27 Ipilimumab or High-Dose Interferon Alfa-2b in Treating Patients With High-Risk Stage III-IV Melanoma That Has Been Removed by Surgery Active, not recruiting NCT01274338 Phase 3
28 A Study of the BRAF Inhibitor Dabrafenib in Combination With the MEK Inhibitor Trametinib in the Adjuvant Treatment of High-risk BRAF V600 Mutation-positive Melanoma After Surgical Resection. Active, not recruiting NCT01682083 Phase 3
29 GSK1120212 vs Chemotherapy in Advanced or Metastatic BRAF V600E/K Mutation-positive Melanoma Active, not recruiting NCT01245062 Phase 3
30 Study Comparing Combination of LGX818 Plus MEK162 Versus Vemurafenib and LGX818 Monotherapy in BRAF Mutant Melanoma Active, not recruiting NCT01909453 Phase 3
31 Study of a Melanoma Vaccine in Stage IIb, IIc, and III Melanoma Patients Active, not recruiting NCT01546571 Phase 3
32 Efficacy Study of Nivolumab Compared to Ipilimumab in Prevention of Recurrence of Melanoma After Complete Resection of Stage IIIb/c or Stage IV Melanoma (CheckMate 238) Active, not recruiting NCT02388906 Phase 3
33 MELABLOCK: A Clinical Trial on the Efficacy and Safety of Propranolol 80 mg in Melanoma Patients Not yet recruiting NCT02962947 Phase 2, Phase 3
34 Elesclomol (STA-4783) With Paclitaxel Versus Paclitaxel Alone in Melanoma Terminated NCT00522834 Phase 3
35 High-Dose Interferon Alfa in Treating Patients With Stage II or Stage III Melanoma Terminated NCT00003641 Phase 3
36 A Study of Transgenic Lymphocyte Immunization (TLI) Against Telomerase in Subjects With Stage III Melanoma Unknown status NCT00925314 Phase 2
37 Vaccine Therapy in Treating Patients With Stage IV Melanoma Unknown status NCT00126685 Phase 1, Phase 2
38 Vaccine Therapy in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed With Surgery Unknown status NCT00086866 Phase 2
39 Rituxan and Abraxane for the Treatment of Patients With Inoperable Stage III and IV Malignant Melanoma Unknown status NCT02142335 Phase 2
40 Efficacy of Nilotinib in First or Second Line Treatment of Primary Melanomas Stage III Unresectable Melanomas. Unknown status NCT01168050 Phase 2
41 Pilot Study Investigating the Metabolic Activity and Transcriptional Profiling in Vivo in Tumor Biopsies in Melanoma Patients During Treatment With Pazopanib Alone and in Combination With Paclitaxel Unknown status NCT01666418 Phase 2
42 Pilot Study Evaluating the Efficacy and Safety of Metformin in Melanoma Unknown status NCT01840007 Phase 2
43 Trametinib With GSK2141795 in BRAF Wild-type Melanoma Unknown status NCT01941927 Phase 2
44 Dasatinib in Treating Patients With Locally Advanced or Metastatic Mucosal Melanoma, Acral Melanoma, or Vulvovaginal Melanoma That Cannot Be Removed By Surgery Unknown status NCT00700882 Phase 2
45 Randomized Trial of ATN-224 and Temozolomide in Advanced Melanoma Unknown status NCT00383851 Phase 2
46 Phase II Trial of Pimasertib Versus Dacarbazine in N-Ras Mutated Cutaneous Melanoma Completed NCT01693068 Phase 2
47 Use of 852A in Metastatic Cutaneous Melanoma. Completed NCT00189332 Phase 2
48 Vaccine Therapy in Treating Patients With Stage IV Cutaneous Melanoma Completed NCT00074230 Phase 1, Phase 2
49 Vatalanib in Treating Patients With Metastatic Cutaneous Melanoma That Cannot be Removed by Surgery Completed NCT00563823 Phase 2
50 Study of GSK2132231A Antigen-Specific Cancer Immunotherapeutic in Patients With Inoperable Metastatic Cutaneous Melanoma Completed NCT00896480 Phase 2

Search NIH Clinical Center for Malignant Melanoma, Somatic

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Malignant Melanoma, Somatic

Genetic tests related to Malignant Melanoma, Somatic:

id Genetic test Affiliating Genes
1 Cutaneous Malignant Melanoma 1 29
2 Cutaneous Malignant Melanoma 24 MC1R
3 Malignant Melanoma, Somatic 24 BRAF KIT NRAS PTEN CDKN2A

Anatomical Context for Malignant Melanoma, Somatic

MalaCards organs/tissues related to Malignant Melanoma, Somatic:

39
Skin, Eye, Testes, Breast, Pancreas

Publications for Malignant Melanoma, Somatic

Variations for Malignant Melanoma, Somatic

ClinVar genetic disease variations for Malignant Melanoma, Somatic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STK11 NM_000455.4(STK11): c.580G> T (p.Asp194Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913315 GRCh37 Chromosome 19, 1220487: 1220487
2 STK11 NM_000455.4(STK11): c.508C> T (p.Gln170Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121913323 GRCh37 Chromosome 19, 1220415: 1220415
3 STK11 NM_000455.4(STK11): c.145T> G (p.Tyr49Asp) single nucleotide variant Pathogenic rs137853080 GRCh37 Chromosome 19, 1207057: 1207057
4 STK11 NM_000455.4(STK11): c.403G> C (p.Gly135Arg) single nucleotide variant Pathogenic rs137853081 GRCh37 Chromosome 19, 1219351: 1219351
5 CDKN2A NM_000077.4(CDKN2A): c.301G> T (p.Gly101Trp) single nucleotide variant Pathogenic,risk factor rs104894094 GRCh37 Chromosome 9, 21971057: 21971057
6 CDKN2A NM_000077.4(CDKN2A): c.106dupG (p.Ala36Glyfs) duplication Pathogenic rs398123152 GRCh37 Chromosome 9, 21974721: 21974721

Cosmic variations for Malignant Melanoma, Somatic:

9 (show all 14)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM580 NRAS skin,ear,malignant melanoma,NS c.181C>A p.Q61K 7
2 COSM5049808 NF1 skin,ear,malignant melanoma,NS c.3652C>T p.Q1218* 7
3 COSM5049807 NF1 skin,ear,malignant melanoma,NS c.3097C>T p.Q1033* 7
4 COSM1651647 KIT skin,eye,malignant melanoma,NS c.1459G>A p.G487S 7
5 COSM110485 GRIN2A skin,ear,malignant melanoma,NS c.3217G>A p.E1073K 7
6 COSM109660 GRIN2A skin,ear,malignant melanoma,NS c.4097C>T p.P1366L 7
7 COSM106626 GRIN2A skin,ear,malignant melanoma,NS c.1959G>A p.M653I 7
8 COSM141892 CNR1 skin,ear,malignant melanoma,NS c.145C>T p.P49S 7
9 COSM141856 CHRM3 skin,ear,malignant melanoma,NS c.1741T>A p.F581I 7
10 COSM1125 BRAF skin,ear,malignant melanoma,NS c.1790T>A p.L597Q 7
11 COSM476 BRAF skin,ear,malignant melanoma,NS c.1799T>A p.V600E 7
12 COSM27639 BRAF skin,ear,malignant melanoma,NS c.1780G>A p.D594N 7
13 COSM478 BRAF skin,ear,malignant melanoma,NS c.1801A>G p.K601E 7
14 COSM471 BRAF skin,ear,malignant melanoma,NS c.1790T>G p.L597R 7

Copy number variations for Malignant Melanoma, Somatic from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 15007 1 111800000 116100000 Amplification NRAS Cutaneous malignant melanoma
2 30467 1 243700000 249250621 Copy number AKT3 Cutaneous malignant melanoma
3 47154 10 89613174 89718512 Loss PTEN Cutaneous malignant melanoma
4 226597 7 59900000 159138663 Amplification BRAF Cutaneous malignant melanoma

Expression for Malignant Melanoma, Somatic

Search GEO for disease gene expression data for Malignant Melanoma, Somatic.

Pathways for Malignant Melanoma, Somatic

Pathways related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 BRAF CDK4 CDK6 CDKN2A CDKN2B CDKN2D
2
Show member pathways
13.38 ACD CDK4 CDK6 CDKN2A CDKN2B CDKN2D
3
Show member pathways
13.04 ACD CDK4 CDK6 CDKN2A CDKN2B CDKN2D
4
Show member pathways
12.83 BRAF CDK4 CDK6 CDKN2A CDKN2B KIT
5
Show member pathways
12.51 CDK4 CDK6 CDKN2A CDKN2B CDKN2D
6 12.45 CDK4 CDK6 IFNA17 KIT NRAS PTEN
7 12.4 ACD CDK4 CDK6 CDKN2A MGMT TERF2IP
8 12.39 CDK4 CDKN2A CDKN2B NRAS TERT
9 12.33 CDK4 CDK6 CDKN2A CDKN2B CDKN2D
10
Show member pathways
12.31 KIT MC1R MITF NRAS TYRP1
11
Show member pathways
12.3 CDK4 CDK6 CDKN2A PTEN
12
Show member pathways
12.3 CDK4 CDK6 CDKN2A CDKN2B CDKN2D
13
Show member pathways
12.28 BRAF KIT NRAS PTEN
14 12.23 CDK4 CDK6 CDKN2A CDKN2B NRAS
15 12.21 BRAF CDK4 CDK6 CDKN2A CDKN2B KIT
16
Show member pathways
12.16 CDK4 CDK6 CDKN2A CDKN2B
17 12.09 BRAF CDK4 PTEN STK11
18
Show member pathways
11.98 BRAF CDK4 CDK6 CDKN2A NRAS
19 11.93 CDK4 CDKN2A MGMT PTEN STK11
20
Show member pathways
11.87 BRAF CDKN2B CDKN2D NRAS PTEN STK11
21 11.76 CDK4 CDK6 CDKN2B PTEN
22
Show member pathways
11.74 BRAF KIT NRAS
23 11.7 CDK6 KIT NRAS
24 11.67 BRAF CDK4 CDKN2A NRAS
25 11.61 KIT NRAS PTEN
26 11.6 ACD POT1 TERF2IP TERT
27 11.45 CDK4 CDKN2B PTEN
28 11.38 KIT MC1R MITF
29 11.21 BRAF CDK4 CDK6 CDKN2A MGMT NRAS
30
Show member pathways
11.14 POT1 TERF2IP TERT
31 11.06 CDK4 CDK6 CDKN2A CDKN2B CDKN2D

GO Terms for Malignant Melanoma, Somatic

Cellular components related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 ACD BAP1 CDK4 CDK6 CDKN2A CDKN2D
2 nuclear chromosome, telomeric region GO:0000784 9.67 ACD POT1 TERF2IP TERT
3 chromosome, telomeric region GO:0000781 9.56 ACD POT1 TERF2IP TERT
4 cyclin D2-CDK4 complex GO:0097129 9.32 CDK4 CDKN2D
5 telosome GO:0070187 9.13 ACD POT1 TERF2IP
6 nuclear telomere cap complex GO:0000783 8.92 ACD POT1 TERF2IP TERT
7 nucleus GO:0005634 10.28 ACD BAP1 BRAF CDK4 CDK6 CDKN2A

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 BRAF CDK6 KIT MITF PTEN
2 regulation of cell proliferation GO:0042127 9.92 BRAF CDK4 CDK6 KIT
3 phosphorylation GO:0016310 9.92 BRAF CDK4 CDK6 CDKN2A CDKN2B CDKN2D
4 negative regulation of cell proliferation GO:0008285 9.8 BAP1 CDK6 CDKN2A CDKN2B CDKN2D PTEN
5 G1/S transition of mitotic cell cycle GO:0000082 9.78 CDK4 CDK6 CDKN2A CDKN2D
6 regulation of protein stability GO:0031647 9.77 CDKN2A PTEN TERT
7 negative regulation of epithelial cell proliferation GO:0050680 9.77 CDK6 CDKN2B PTEN
8 cell cycle arrest GO:0007050 9.77 CDK6 CDKN2A CDKN2B CDKN2D STK11
9 telomere maintenance GO:0000723 9.7 ACD TERF2IP TERT
10 regulation of cyclin-dependent protein serine/threonine kinase activity GO:0000079 9.69 CDKN2B CDKN2D PTEN
11 response to inorganic substance GO:0010035 9.64 BAP1 PTEN
12 melanin biosynthetic process GO:0042438 9.64 MC1R TYRP1
13 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.63 CDK6 CDKN2A
14 replicative senescence GO:0090399 9.63 CDKN2A TERT
15 telomere capping GO:0016233 9.63 ACD POT1 TERF2IP
16 negative regulation of cellular senescence GO:2000773 9.62 CDK6 TERT
17 protein localization to chromosome, telomeric region GO:0070198 9.61 ACD TERF2IP
18 somatic stem cell division GO:0048103 9.61 CDKN2A KIT
19 negative regulation of phosphorylation GO:0042326 9.61 CDKN2A CDKN2B CDKN2D
20 protection from non-homologous end joining at telomere GO:0031848 9.58 ACD TERF2IP
21 regulation of axon regeneration GO:0048679 9.58 BRAF PTEN
22 melanocyte differentiation GO:0030318 9.58 KIT MITF TYRP1
23 cellular response to phorbol 13-acetate 12-myristate GO:1904628 9.56 CDK4 CDK6
24 myeloid progenitor cell differentiation GO:0002318 9.55 BRAF KIT
25 telomere assembly GO:0032202 9.49 ACD POT1
26 pigmentation GO:0043473 9.46 KIT MC1R MITF TYRP1
27 establishment of protein localization to telomere GO:0070200 9.13 ACD POT1 TERT
28 telomere maintenance via telomerase GO:0007004 8.92 ACD POT1 TERF2IP TERT
29 cell cycle GO:0007049 10.04 CDK4 CDK6 CDKN2A CDKN2B CDKN2D STK11

Molecular functions related to Malignant Melanoma, Somatic according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.8 BRAF CDK4 CDK6 KIT STK11
2 nucleotide binding GO:0000166 9.65 BRAF CDK4 CDK6 KIT NRAS
3 kinase activity GO:0016301 9.56 BRAF CDK4 CDK6 CDKN2A CDKN2B CDKN2D
4 G-rich strand telomeric DNA binding GO:0098505 9.37 POT1 TERF2IP
5 cyclin-dependent protein serine/threonine kinase inhibitor activity GO:0004861 9.33 CDKN2A CDKN2B CDKN2D
6 telomeric DNA binding GO:0042162 8.92 ACD POT1 TERF2IP TERT
7 protein binding GO:0005515 10.25 ACD BAP1 BRAF CDK4 CDK6 CDKN2A

Sources for Malignant Melanoma, Somatic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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42 MeSH
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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