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MCID: MLN069
MIFTS: 61

Melanoma, Uveal

Categories: Cancer diseases, Eye diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Melanoma, Uveal

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MalaCards integrated aliases for Melanoma, Uveal:

Name: Melanoma, Uveal 57
Uveal Melanoma 12 58 29 54 6 44 15 17 71
Choroidal Melanoma 58 17
Susceptibility to Uveal Melanoma 6
Malignant Melanoma of Choroid 71
Malignant Melanoma of Iris 71
Melanoma of Uvea 12
Iris Melanoma 58

Characteristics:

Orphanet epidemiological data:

58
uveal melanoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: adult,elderly;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
melanoma, uveal:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Cancer diseases
Anatomical: Eye diseases Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:6039
OMIM® 57 155720
MeSH 44 C536494
NCIt 50 C7712
MESH via Orphanet 45 C536494
ICD10 via Orphanet 33 C69.3
UMLS via Orphanet 72 C0220633 C0346373 C0346388
Orphanet 58 ORPHA39044
MedGen 41 C0220633
UMLS 71 C0220633 C0346373 C0346388
Sources

Summaries for Melanoma, Uveal

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Disease Ontology : 12 A uveal cancer that has material basis in uvea pigment cells.

MalaCards based summary : Melanoma, Uveal, also known as uveal melanoma, is related to ocular melanoma and skin melanoma. An important gene associated with Melanoma, Uveal is BAP1 (BRCA1 Associated Protein 1), and among its related pathways/superpathways are CCR5 Pathway in Macrophages and Aldosterone synthesis and secretion. The drugs Triamcinolone and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and endothelial, and related phenotypes are visual loss and choroidal melanoma

Wikipedia : 74 Uveal melanoma is a cancer (melanoma) of the eye involving the iris, ciliary body, or choroid... more...

More information from OMIM: 155720
Sources

Related Diseases for Melanoma, Uveal

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Diseases in the Melanoma, Uveal family:

Melanoma, Uveal 1 Melanoma, Uveal 2
Posterior Uveal Melanoma

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

(show top 50) (show all 393)
# Related Disease Score Top Affiliating Genes
1 ocular melanoma 33.2 NRAS GNAQ GNA11 BAP1
2 skin melanoma 32.5 TYR SF3B1 PLCB4 NRAS GNAQ GNA11
3 ocular cancer 31.4 MIRLET7B MIR143 GNAQ GNA11
4 skin carcinoma 31.3 TYR NRAS GNAQ GNA11 BRAF BAP1
5 malignant conjunctival melanoma 31.3 NRAS GNAQ GNA11
6 melanoma, cutaneous malignant 1 31.2 TYR NRAS GNAQ GNA11 BRAF BAP1
7 malignant spindle cell melanoma 31.2 TYR NRAS GNAQ GNA11
8 mucosal melanoma 31.1 SF3B1 NRAS GNAQ GNA11 BRAF BAP1
9 nevus of ota 31.0 BRAF BAP1
10 epithelioid cell melanoma 30.8 TYR GNA11
11 melanoma 30.8 TYR SF3B1 PLCB4 PAUPAR NRAS MIRLET7B
12 uveal disease 30.7 TYR NRAS GNAQ GNA11 BAP1
13 nodular malignant melanoma 30.6 TYR NRAS GNAQ GNA11 BRAF
14 weber syndrome 30.6 GNAQ GNA11
15 myeloma, multiple 30.5 NRAS MIRLET7B MALAT1 BRAF BAP1
16 rhabdoid meningioma 30.4 BRAF BAP1
17 necrotic uveal melanoma 11.6
18 posterior uveal melanoma 11.6
19 mixed cell uveal melanoma 11.5
20 melanoma, uveal 1 11.4
21 melanoma, uveal 2 11.4
22 bap1 tumor predisposition syndrome 11.4
23 tumor predisposition syndrome 11.3
24 uveal epithelioid cell melanoma 11.3
25 retinal detachment 10.8
26 neovascular glaucoma 10.7
27 malignant leptomeningeal tumor 10.6 TYR NRAS GNAQ GNA11
28 meningeal melanoma 10.6 TYR NRAS GNAQ GNA11
29 spitzoid melanoma 10.6 NRAS GNAQ GNA11 BRAF
30 meningeal melanomatosis 10.6 NRAS GNAQ GNA11
31 malignant dermis tumor 10.6 NRAS GNAQ GNA11
32 central nervous system melanocytic neoplasm 10.6 NRAS GNAQ GNA11
33 malignant skin fibrous histiocytoma 10.6 NRAS GNAQ GNA11
34 melanomatosis 10.6 TYR NRAS GNAQ
35 retinoblastoma 10.6
36 vulvar melanoma 10.6 NRAS GNAQ GNA11
37 hypomelanosis of ito 10.6 NRAS GNAQ GNA11
38 melanoma in congenital melanocytic nevus 10.6 TYR NRAS GNAQ BRAF
39 conjunctival cancer 10.6 NRAS GNAQ GNA11
40 phakomatosis cesioflammea 10.6 GNAQ GNA11
41 orbit rhabdomyosarcoma 10.6 TYR NRAS GNAQ
42 bladder urothelial carcinoma 10.6 SF3B1 NRAS MALAT1 BRAF
43 large congenital melanocytic nevus 10.6 NRAS GNAQ GNA11
44 cataract 10.5
45 melphalan allergy 10.5 NRAS BRAF
46 meningeal melanocytoma 10.5 GNAQ GNA11
47 malignant anus melanoma 10.5 NRAS GNA11
48 severe combined immunodeficiency 10.5
49 conjunctival nevus 10.5 NRAS GNAQ
50 gastrointestinal system cancer 10.5 MIRLET7B MIR193B MIR143 MALAT1

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



Diseases related to Melanoma, Uveal
Sources

Symptoms & Phenotypes for Melanoma, Uveal

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Human phenotypes related to Melanoma, Uveal:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
2 choroidal melanoma 58 31 hallmark (90%) Very frequent (99-80%) HP:0012054
3 retinal detachment 58 31 frequent (33%) Frequent (79-30%) HP:0000541
4 iris melanoma 58 31 frequent (33%) Frequent (79-30%) HP:0011524
5 ciliary body melanoma 58 31 frequent (33%) Frequent (79-30%) HP:0012055
6 vitreous hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0007902
7 abnormality of refraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0000539
8 mydriasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0011499
9 metamorphopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012508
10 ocular hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0007906
11 inferior lens subluxation 58 31 occasional (7.5%) Occasional (29-5%) HP:0008494
12 zonular cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010920
13 photopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0030786
14 abnormal visual accommodation 58 31 occasional (7.5%) Occasional (29-5%) HP:0030800
15 inflammatory abnormality of the eye 58 31 very rare (1%) Very rare (<4-1%) HP:0100533
16 ocular pain 58 31 very rare (1%) Very rare (<4-1%) HP:0200026
17 abnormal fundus morphology 58 Very frequent (99-80%)
18 uveal melanoma 31 HP:0007716

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Eyes:
uveal melanoma

Misc:
most common primary intraocular malignancy
frequent loss of chromosome 3 material and additions of chromosome 8

Clinical features from OMIM®:

155720 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Melanoma, Uveal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.43 BRAF GNA11 GNAQ NUMB PLCB4 TYR
2 pigmentation MP:0001186 9.02 BRAF GNA11 GNAQ NRAS TYR
Sources

Drugs & Therapeutics for Melanoma, Uveal

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

(show top 50) (show all 144)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2 Immunologic Factors Phase 4
3 Immunosuppressive Agents Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Anti-Inflammatory Agents Phase 4
7 Triamcinolone hexacetonide Phase 4
8 triamcinolone acetonide Phase 4
9 Triamcinolone diacetate Phase 4
10 glucocorticoids Phase 4
11
Sargramostim Approved, Investigational Phase 3 123774-72-1, 83869-56-1
12
Ranibizumab Approved Phase 3 347396-82-1 459903
13
Bevacizumab Approved, Investigational Phase 3 216974-75-3
14 Molgramostim Investigational Phase 3 99283-10-0
15
Fotemustine Investigational Phase 3 92118-27-9
16 Angiogenesis Inhibitors Phase 3
17 Freund's Adjuvant Phase 3
18 Vaccines Phase 3
19 Mitogens Phase 3
20 Endothelial Growth Factors Phase 3
21
Sodium citrate Approved, Investigational Phase 2 68-04-2
22
Tamoxifen Approved Phase 2 10540-29-1 2733526
23
Tramadol Approved, Investigational Phase 1, Phase 2 27203-92-5 33741
24
Ibuprofen Approved Phase 1, Phase 2 15687-27-1 3672
25
Aluminum sulfate Approved Phase 2 10043-01-3
26
Aluminum hydroxide Approved, Investigational Phase 2 21645-51-2
27
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
28
Pancrelipase Approved, Investigational Phase 2 53608-75-6
29
Lomustine Approved, Investigational Phase 2 13010-47-4 3950
30
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
31
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
32
Pasireotide Approved Phase 2 396091-73-9 9941444
33
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
34
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
35
Entrectinib Approved, Investigational Phase 1, Phase 2 1108743-60-7 25141092
36
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
37
Niraparib Approved, Investigational Phase 2 1038915-60-4 24958200
38
Ipilimumab Approved Phase 2 477202-00-9
39
Aldesleukin Approved Phase 2 110942-02-4, 85898-30-2
40
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
41
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
42
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
43
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166 2942
44
Acetaminophen Approved Phase 2 103-90-2 1983
45
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
48
Cobalt Approved, Experimental Phase 2 7440-48-4 104729
49 Ethiodized oil Approved, Investigational Phase 2 8008-53-5
50
Carmustine Approved, Investigational Phase 2 154-93-8 2578

Interventional clinical trials:

(show top 50) (show all 145)
# Name Status NCT ID Phase Drugs
1 A Randomized Control Trial of Intravitreal Ranibizumab (Lucentis) for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy for Choroidal Melanoma Unknown status NCT00540930 Phase 4 Ranibizumab
2 Transpupillary Thermotherapy (TTT) Alone Versus the Combined Therapy Consisting of TTT and Intravitreal Injection of Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Unknown status NCT02379000 Phase 4 Triamcinolone Acetonide
3 Treatment Of Radiation Retinopathy Trial Subtitle: Treatment of Radiation Retinopathy; Influence of Lucentis® and Kenalog® on Radiation Retinopathy After Irradiation of Choroidal Melanoma. Unknown status NCT00811200 Phase 2, Phase 3 ranibizumab;triamcinolone acetonide
4 Randomized Phase III Study Comparing an Adjuvant Chemotherapy With Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Unknown status NCT02843386 Phase 3 Adjuvant chemotherapy by Fotemustin
5 A Randomised, Double-Blind Study to Assess the Efficacy of Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Combination With Dacarbazine Compared With Placebo in Combination With Dacarbazine as First Systemic Therapy in Patients With Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3 75mg selumetinib;placebo;Dacarbazine
6 A Random-Assignment Study of Hepatic Arterial Infusion of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) (Delcath System) Versus Best Alternative Care for Ocular and Cutaneous Melanoma Metastatic to the Liver Completed NCT00324727 Phase 3 melphalan;regional chemotherapy;systemic chemotherapy
7 A Randomized, Placebo-Controlled Phase III Trial of Yeast Derived GM-CSF Versus Peptide Vaccination Versus GM-CSF Plus Peptide Vaccination Versus Placebo in Patients With "No Evidence of Disease" After Complete Surgical Resection of "Locally Advanced" and/or Stage IV Melanoma Completed NCT01989572 Phase 3
8 Ranibizumab as Adjuvant Therapy for the Treatment of Choroidal Melanoma Completed NCT00680225 Phase 3 Ranibizumab injection and TTT - ICG based
9 A NON-COMMERCIAL, MULTICENTER, RANDOMIZED, TWO-ARMED, OPEN-LABEL PHASE III STUDY TO EVALUATE THE ADJUVANT VACCINATION WITH TUMOR RNA-LOADED AUTOLOGOUS DENDRITIC CELLS VERSUS OBSERVATION OF PATIENTS WITH RESECTED MONOSOMY 3 UVEAL MELANOMA Recruiting NCT01983748 Phase 3
10 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Recruiting NCT01785316 Phase 3
11 Prevention of Neovascular Glaucoma by Intravitreal Injections of Anti-Vascular Endothelial Growth Factor in Patients Treated With Proton Therapy for a Large Choroidal Melanoma Not yet recruiting NCT03172299 Phase 3 Aflibercept Injection;False injection
12 Intravenous Versus Intra-Arterial Fotemustine Chemotherapy in Patients With Liver Metastases From Uveal Melanoma: A Randomized Phase III Study of the EORTC Melanoma Group Terminated NCT00110123 Phase 3 fotemustine;isolated perfusion
13 Phase II Single-Center Study of Bevacizumab in Combination With Temozolomide in Patients With First-Line Metastatic Uveal Melanoma Unknown status NCT01217398 Phase 2 temozolomide
14 A Phase II Pilot Trial of Sutent, Tamoxifen, and Cisplatin in Patients With High-Risk Ocular Melanoma Unknown status NCT00489944 Phase 2 cisplatin;sunitinib malate;tamoxifen citrate
15 A Randomized Discontinuation, Blinded, Placebo-Controlled Phase II Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2 Placebo;Sorafenib;Sorafenib
16 Post-Operative Pain Relief Following Insertion of Radioactive Plaque for Choroidal Melanoma: Randomised Control Trial of Tramadol Vs Ibuprofen: A Pilot Study Unknown status NCT00111046 Phase 1, Phase 2 Ibuprofen;Tramadol
17 A Phase 2 Study Of Weekly Infusion Nab-paclitaxel (Paclitaxel Protein-bound Particles for Injectable Suspension) In Patients With Unresectable And Metastatic Uveal Melanoma Completed NCT00738361 Phase 2 nab-paclitaxel
18 Vaccination With Multiple Synthetic Melanoma Peptides Recognized by Helper T-Cells in Patients With Advanced Melanoma Completed NCT00089219 Phase 1, Phase 2
19 Vaccination With Synthetic Melanoma Peptides Administered With GM-CSF-in-Adjuvant in Patients With Advanced Melanoma Completed NCT00089206 Phase 2
20 Phase II Trial Of Interferon-B In Patients With Metastatic Cutaneous Melanoma And Metastatic Ocular Melanoma Completed NCT00085306 Phase 2
21 MDX-CTLA4 Combined With IL-2 for Patients With Metastatic Melanoma Completed NCT00058279 Phase 1, Phase 2
22 A Phase II Randomized Trial of a Vaccine Combining Tyrosinase/GP100/MART-1 Peptides Emulsified With Montanide ISA 51 With Interleukin-12 With Alum or GM-CSF for Patients With Resected Stages IIB/C, III and IV Melanoma Completed NCT00031733 Phase 2 alum adjuvant
23 A Phase II Trial of an Intradermally Administered MART-1gp100/Tyrosinase Peptide-Pulsed Dendritic Cell Vaccine Matured With a Cytokine Cocktail for Patients With Metastatic Melanoma Completed NCT00334776 Phase 2
24 Phase II Study of Pegylated Interferon and Thalidomide in Pretreated Metastatic Malignant Melanoma Completed NCT00238329 Phase 2 thalidomide
25 An Extended Dosing, Two-phase Study of MDX-010 as Monotherapy or in Combination With Tyrosinase/gp100/MART-1 Peptides Emulsified With Montanide ISA 51 VG in the Treatment of Subjects With Resected Stage III or Stage IV Melanoma Completed NCT00084656 Phase 2
26 An Open-label Study Of MDX-010 In Combination With gp100 Peptides Emulsified With Montanide ISA 51 In The Treatment Of Patients With Stage IV Melanoma Completed NCT00032045 Phase 2
27 A Phase II Study Of Hepatic Arterial Infusion Of Melphalan With Venous Filtration Via Peripheral Hepatic Perfusion (PHP) For Unresectable Primary And Metastatic Cancers Of The Liver Completed NCT00096083 Phase 2 isolated perfusion;melphalan
28 A Phase II Study of Temozolomide, Thalidomide, and Lomustine in the Treatment of Advanced Melanoma Completed NCT00072345 Phase 2 lomustine;temozolomide;thalidomide
29 A Phase II Trial of Pyrazoloacridine (NSC 366140, IND 36325) in Metastatic Cutaneous and Ocular Melanoma Completed NCT00003802 Phase 2 pyrazoloacridine
30 A Phase II Study of Temozolomide (Temodar) and Peglated Interferon Alfa-2B (PEGIntron) in the Treatment of Advanced Melanoma Completed NCT00027742 Phase 2 temozolomide
31 A Phase I/II Study of Temozolamide and Thalidomide in the Treatment of Advanced Melanoma Completed NCT00005815 Phase 1, Phase 2 temozolomide;thalidomide
32 Randomized Phase II Trial of Temozolomide Versus Hyd-Sulfate AZD6244 [NSC 748727] in Patients With Metastatic Uveal Melanoma Completed NCT01143402 Phase 2 Dacarbazine;Selumetinib;Temozolomide
33 Phase II Trial of BAY 43-9006 (Sorafenib; NSC-724772) in Combination With Carboplatin and Paclitaxel in Patients With Metastatic Uveal Melanoma Completed NCT00329641 Phase 2 carboplatin;paclitaxel;sorafenib tosylate
34 Adjuvant Therapy for Patients With Primary Uveal Melanoma With Genetic Imbalance Completed NCT01100528 Phase 2 dacarbazine
35 Phase II Study of IMC-A12 in Metastatic Uveal Melanoma Completed NCT01413191 Phase 2
36 A Phase II Study of RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2 RAD001 (Everolimus) and Pasireotide (SOM230) LAR
37 A Randomized Two-Arm Phase II Study of Trametinib Alone and in Combination With GSK2141795 in Patients With Advanced Uveal Melanoma Completed NCT01979523 Phase 2 Trametinib;Uprosertib
38 Open Label Phase II Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Completed NCT01034787 Phase 2 CP-675,206
39 Study Multicentre Evaluating the Effectiveness and Toxicity Sorafenib (Nexavar®) in Adult Patients With Uveal Melanoma and Metastatic Dissemination Completed NCT02517736 Phase 2 Sorafenib at a dose of 800 mg / day
40 Immuno-embolization of Hepatic Artery With Granulocyte-macrophage Colony Stimulating Factor (GM-CSF) Completed NCT00661622 Phase 2 GM-CSF
41 A Randomised Phase II Study of Sunitinib Versus Dacarbazine in the Treatment of Patients With Metastatic Uveal Melanoma Completed NCT01551459 Phase 2 Dacarbazine;Sunitinib
42 A Phase 2 Study of CDX-011 (Glembatumumab Vedotin) for Metastatic Uveal Melanoma Completed NCT02363283 Phase 2 Glembatumumab Vedotin
43 A Phase 2 Study of Marqibo in Patients With Metastatic Uveal Melanoma Completed NCT00506142 Phase 2 Marqibo® (vincristine sulfate liposomes injection)
44 Phase 2 Study to Evaluate the Efficacy of High Dose Ranibizumab as Adjuvant in the Treatment of Choroidal Melanoma Completed NCT01251978 Phase 2 Ranibizumab 2 mg;0.5 mg Ranibizumab
45 A Phase 2 Study Evaluating the Efficacy of VEGF Trap in Patients With Recurrent Inoperable Stage III or Stage IV Melanoma Completed NCT00450255 Phase 2
46 A Randomized Phase II Continuation Booster Trial After A Vaccine Combining Tyrosinase/GP100/Mart-1 Peptides Emulsified With Montanide ISA 51 and ISA 51 VG With Or Without GM-CSF For Patients With Resected Stages IIB/C, III And IV Melanoma Completed NCT00089063 Phase 2 Montanide ISA 51 VG
47 A Phase II Trial of PS-341 in Combination With Paclitaxel and Carboplatin for the Treatment of Metastatic Melanoma Completed NCT00288041 Phase 2 carboplatin;paclitaxel;bortezomib
48 A Phase II Study of Vorinostat in Patients With Advanced Melanoma Completed NCT00121225 Phase 2 vorinostat
49 A PHASE II TRIAL OF A VACCINE COMBINING MULTIPLE CLASS I PEPTIDES WITH MONTANIDE ISA 51 OR ISA 51 VG AND CpG ADJUVANT 7909 FOR PATIENTS WITH RESECTED STAGES IIC/III AND IV MELANOMA Completed NCT00085189 Phase 2 Montanide ISA 51 VG;agatolimod sodium
50 Phase II Open-Label Study of Weekly Taxoprexin (DHA-paclitaxel) Injection as First Line Treatment of Patients With Metastatic Non-choroidal Melanoma Completed NCT00249262 Phase 2 Taxoprexin

Search NIH Clinical Center for Melanoma, Uveal

Cochrane evidence based reviews: uveal melanoma

Sources

Genetic Tests for Melanoma, Uveal

About this section

Genetic tests related to Melanoma, Uveal:

# Genetic test Affiliating Genes
1 Uveal Melanoma 29
Sources

Anatomical Context for Melanoma, Uveal

About this section

MalaCards organs/tissues related to Melanoma, Uveal:

40
Eye, Liver, Endothelial, Retina, Brain, Breast, T Cells
Sources

Publications for Melanoma, Uveal

About this section

Articles related to Melanoma, Uveal:

(show top 50) (show all 3905)
# Title Authors PMID Year
1
Genetic study of familial uveal melanoma: association of uveal and cutaneous melanoma with cutaneous and ocular nevi. 57 61 54
17207529 2007
2
Melanocortin 1 receptor is expressed by uveal malignant melanoma and can be considered a new target for diagnosis and immunotherapy. 61 57 54
17325166 2007
3
Contribution of germline mutations in BRCA2, P16(INK4A), P14(ARF) and P15 to uveal melanoma. 54 57 61
12556369 2003
4
Insulin-like growth factor-1 receptor in uveal melanoma: a predictor for metastatic disease and a potential therapeutic target. 54 61 57
11773005 2002
5
Angiostatin produced by certain primary uveal melanoma cell lines impedes the development of liver metastases. 54 61 57
11735791 2001
6
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. 61 57
23793026 2013
7
Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. 57 61
23313955 2013
8
What hope for the future? GNAQ and uveal melanoma. 61 57
21378004 2011
9
Serum vascular endothelial growth factor (VEGF) levels correlate with number and location of micrometastases in a murine model of uveal melanoma. 61 57
20819828 2011
10
Frequent mutation of BAP1 in metastasizing uveal melanomas. 57 61
21051595 2010
11
Mutations in GNA11 in uveal melanoma. 57 61
21083380 2010
12
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. 57 61
19078957 2009
13
Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. 57 61
18172070 2008
14
Osteopontin as a serologic marker for metastatic uveal melanoma: results of a pilot study. 61 57
17386288 2007
15
Geographic disparities in diagnostic screening for metastatic uveal melanoma. 57 61
15582082 2004
16
Noninvasive in vivo detection of prognostic indicators for high-risk uveal melanoma: ultrasound parameter imaging. 61 57
15019336 2004
17
Liver function tests in metastatic uveal melanoma. 61 57
14962411 2004
18
Microcirculation and tumor-infiltrating macrophages in choroidal and ciliary body melanoma and corresponding metastases. 57 61
14691146 2004
19
Histopathology of eyes enucleated after endoresection of choroidal melanoma. 57 61
14711728 2004
20
Nucleolar diameter and microvascular factors as independent predictors of mortality from malignant melanoma of the choroid and ciliary body. 57 61
12766034 2003
21
Depsipeptide (FR901228) inhibits proliferation and induces apoptosis in primary and metastatic human uveal melanoma cell lines. 57 61
12766035 2003
22
Incidence of uveal melanoma in the United States: 1973-1997. 57 61
12750097 2003
23
EMAP-II expression is associated with macrophage accumulation in primary uveal melanoma. 61 57
12714608 2003
24
Tumor basal area and metastatic death after proton beam irradiation for choroidal melanoma. 57 61
12523887 2003
25
Efficacy of (123)N-isopropyl-p-[(123)I]-iodoamphetamine single photon emission computed tomography for the diagnosis of uveal malignant melanoma. 57 61
11730669 2001
26
Calcification in choroidal melanoma after transpupillary thermotherapy. 61 57
11730670 2001
27
Uveal melanoma: no expression of HLA-G. 57 61
11726606 2001
28
Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma. 61 57
11309305 2001
29
Concurrent choroidal melanoma in son and father. 61 57
11078855 2000
30
Metastatic melanoma death rates by anatomic site after proton beam irradiation for uveal melanoma. 57 61
10922199 2000
31
Neoadjuvant interferon alfa-2b treatment in a murine model for metastatic ocular melanoma: a preliminary study. 57 61
10922203 2000
32
Occurrence of retinoblastoma and uveal melanoma in the same patient. 57 61
10872940 2000
33
Familial uveal melanoma. Clinical observations on 56 patients. 61 57
8602775 1996
34
Two subclones in a case of uveal melanoma. Relevance of monosomy 3 and multiplication of chromosome 8q. 57 61
7954325 1994
35
Familial uveal melanoma. 61 57
8154536 1994
36
The prognostic value of tumor blood vessel morphology in primary uveal melanoma. 57 61
8371929 1993
37
Non-random abnormalities of chromosomes 3, 6, and 8 associated with posterior uveal melanoma. 57 61
1384670 1992
38
Loss of chromosome 3 alleles and multiplication of chromosome 8 alleles in uveal melanoma. 61 57
1382562 1992
39
Chromosomal aberrations defining uveal melanoma of poor prognosis. 61 57
1347396 1992
40
Familial uveal melanoma. 61 57
3288276 1988
41
Loss of alleles at polymorphic loci on chromosome 2 in uveal melanoma. 61 57
3006911 1986
42
Germline mutations in BAP1 predispose to melanocytic tumors. 57
21874003 2011
43
Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas. 57
20805136 2011
44
Micro-RNAs associated with metastasis in uveal melanoma identified by multiplexed microarray profiling. 61 47
18477892 2008
45
Histopathology of documented growth in small melanocytic choroidal tumors. 57
15596595 2004
46
Melanocytomas of the optic disk. 57
15629287 2004
47
The Collaborative Ocular Melanoma Study (COMS) randomized trial of pre-enucleation radiation of large choroidal melanoma: IV. Ten-year mortality findings and prognostic factors. COMS report number 24. 57
15629284 2004
48
Melanocytoma of optic disc in 115 cases: the 2004 Samuel Johnson Memorial Lecture, part 1. 57
15350331 2004
49
Optical coherence tomography in the evaluation of retinal changes associated with suspicious choroidal melanocytic tumors. 57
14700649 2004
50
Consecutive choroidal melanoma in the same eye of a patient. 57
12719093 2003
Sources

Variations for Melanoma, Uveal

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ClinVar genetic disease variations for Melanoma, Uveal:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BAP1 NM_004656.4(BAP1):c.932-8_960del Deletion Pathogenic 633598 rs1559588632 3:52439282-52439318 3:52405266-52405302
2 PLCB4 NM_000933.3(PLCB4):c.1888G>T (p.Asp630Tyr) SNV Pathogenic 633597 rs1568763104 20:9389753-9389753 20:9409106-9409106
3 GNA11 NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) SNV Likely pathogenic 376001 rs1057519742 19:3118942-3118942 19:3118944-3118944
4 GNAQ NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) SNV Likely pathogenic 375957 rs121913492 9:80409488-80409488 9:77794572-77794572
5 GNAQ NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) SNV Likely pathogenic 375955 rs121913492 9:80409488-80409488 9:77794572-77794572
6 GNA11 NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) SNV Likely pathogenic 376002 rs1057519742 19:3118942-3118942 19:3118944-3118944
7 GNAQ NM_002072.5(GNAQ):c.625_626delinsTT (p.Gln209Leu) Indel Likely pathogenic 376311 rs1057519853 9:80409488-80409489 9:77794572-77794573
8 TMEM127 NM_017849.3(TMEM127):c.562A>G (p.Ile188Val) SNV Uncertain significance 463853 rs762657413 2:96919701-96919701 2:96253963-96253963

Copy number variations for Melanoma, Uveal from CNVD:

7 (show all 33)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13320 1 1 124300000 Copy number Uveal melanoma
2 15978 1 120700000 121100000 Nomal NOTCH2 Uveal melanoma
3 21742 1 16100000 20300000 Nomal NBL1 Uveal melanoma
4 32197 1 34400000 46500000 Nomal MYCBP Uveal melanoma
5 32198 1 34400000 46500000 Nomal PTAFR Uveal melanoma
6 33591 1 46500000 51300000 Nomal MUTYH Uveal melanoma
7 35197 1 60900000 84700000 Nomal RPE65 Uveal melanoma
8 37517 1 9200000 12600000 Nomal MFN2 Uveal melanoma
9 166068 3 1 199501827 Copy number Uveal melanoma
10 168175 3 127700000 131500000 Loss RHO Uveal melanoma
11 170048 3 150400000 153500000 Loss MME Uveal melanoma
12 172555 3 18400000 104400000 Loss CPO Uveal melanoma
13 173444 3 193800000 199501827 Loss OPA1 Uveal melanoma
14 174743 3 32100000 43600000 Loss CTNNB1 Uveal melanoma
15 175394 3 39300000 43600000 Loss MLH1 Uveal melanoma
16 175735 3 43600000 51400000 Loss SEMA3B Uveal melanoma
17 177570 3 58500000 63700000 Loss FHIT Uveal melanoma
18 178910 3 81800000 83700000 Loss ROBO1 Uveal melanoma
19 179180 3 8700000 11500000 Loss FANCD2 Uveal melanoma
20 179181 3 8700000 11500000 Loss VHL Uveal melanoma
21 203641 6 1 170899992 Copy number Uveal melanoma
22 205639 6 130400000 131300000 Nomal CCN2 Uveal melanoma
23 207759 6 160900000 164400000 Nomal IGF2R Uveal melanoma
24 209014 6 2300000 4100000 Nomal Uveal melanoma
25 209045 6 23500000 26100000 Nomal DCDC2 Uveal melanoma
26 210240 6 29900000 45200000 Nomal RUNX2 Uveal melanoma
27 212309 6 36800000 40600000 Nomal CDKN1A Uveal melanoma
28 232746 8 119200000 122500000 Gain MYC Uveal melanoma
29 233772 8 127300000 140000000 Gain ASAP1 Uveal melanoma
30 238089 8 29700000 38500000 Nomal NRG1 Uveal melanoma
31 240056 8 45200000 146274826 Copy number Uveal melanoma
32 240078 19 67920024 67921999 Gain GDF15 Uveal melanoma
33 240624 8 52800000 55600000 Gain RP1 Uveal melanoma
Sources

Expression for Melanoma, Uveal

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Search GEO for disease gene expression data for Melanoma, Uveal.
Sources

Pathways for Melanoma, Uveal

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Pathways related to Melanoma, Uveal according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
CCR5 Pathway in Macrophages 63
Show member pathways
 12.72 PLCB4 NRAS GNAQ GNA11 BRAF
2
Aldosterone synthesis and secretion 36
Show member pathways
 12.72 TYR PLCB4 NRAS GNAQ GNA11 BRAF
3
Development Angiotensin activation of ERK 23
Show member pathways
 12.68 PLCB4 NRAS GNAQ GNA11 BRAF
4
Pathways in cancer 36
12.67 PLCB4 NRAS GNAQ GNA11 BRAF
5
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.5 PLCB4 NRAS GNAQ GNA11
6
MicroRNAs in cancer 36
12.38 NRAS MIRLET7B MIR193B MIR143
7
Oxytocin signaling pathway 36
Show member pathways
 12.26 PLCB4 NRAS GNAQ GNA11 BRAF
8
Calcium signaling pathway 36
12.22 PLCB4 GNAQ GNA11 CYSLTR2
9
UVA-Induced MAPK Signaling 63
Show member pathways
 11.92 PLCB4 NRAS GNAQ GNA11
10
Sphingolipid signaling pathway 36
11.87 PLCB4 NRAS GNAQ
11
MAP Kinase Signaling 4
11.83 NRAS GNAQ BRAF
12
Development A2B receptor- action via G-protein alpha s 23
Show member pathways
 11.83 PLCB4 GNAQ GNA11 BRAF
13
Glioblastoma Multiforme 63
11.82 PLCB4 NRAS BRAF
14
Amoebiasis 36
11.76 PLCB4 GNAQ GNA11
15
Serotonergic synapse 36
11.73 PLCB4 NRAS GNAQ BRAF
16
Corticotropin-releasing hormone signaling pathway 1
11.7 GNAQ GNA11 BRAF
17
Long-term potentiation 36
Show member pathways
 11.66 PLCB4 NRAS GNAQ BRAF
18
G-protein signaling_RhoA regulation pathway 23
11.6 NRAS GNAQ GNA11 BRAF
19
Parathyroid hormone synthesis, secretion and action 36
11.58 PLCB4 GNAQ GNA11 BRAF
20
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.43 PLCB4 GNAQ GNA11
21
Gap junction 36
11.4 PLCB4 NRAS GNAQ GNA11
22
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
11.26 PLCB4 GNAQ GNA11
23
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) 23
11.18 PLCB4 GNAQ GNA11
24
GnRH secretion 36
11.06 PLCB4 NRAS GNAQ GNA11
25
Serotonin Receptor 2 and ELK-SRF/GATA4 signaling 1
10.93 NRAS GNAQ
26
Long-term depression 36
10.8 PLCB4 NRAS GNAQ GNA11 BRAF
27
Free fatty acids regulate insulin secretion 65
Show member pathways
 10.79 GNAQ GNA11
Sources

GO Terms for Melanoma, Uveal

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

# Name GO ID Score Top Affiliating Genes
1 action potential GO:0001508 9.26 GNAQ GNA11
2 G protein-coupled acetylcholine receptor signaling pathway GO:0007213 9.16 GNAQ GNA11
3 phototransduction, visible light GO:0007603 8.96 GNAQ GNA11
4 entrainment of circadian clock GO:0009649 8.62 GNAQ GNA11

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

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.16 GNAQ GNA11
2 guanyl nucleotide binding GO:0019001 8.96 GNAQ GNA11
3 type 2A serotonin receptor binding GO:0031826 8.62 GNAQ GNA11
Sources

Sources for Melanoma, Uveal

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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