MCID: UVL004
MIFTS: 60

Uveal Melanoma malady

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

Aliases & Classifications for Uveal Melanoma

Aliases & Descriptions for Uveal Melanoma:

Name: Uveal Melanoma 12 56 52 42 14 69
Malignant Melanoma of Choroid 69
Malignant Melanoma of Iris 69
Choroidal Melanoma 56
Melanoma of Uvea 12
Melanoma, Uveal 24
Iris Melanoma 56

Characteristics:

Orphanet epidemiological data:

56
uveal melanoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Europe); Age of onset: Adult; Age of death: adult,elderly;

HPO:

32
uveal melanoma:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:6039
MeSH 42 C536494
NCIt 47 C7712
Orphanet 56 ORPHA39044
MESH via Orphanet 43 C536494
UMLS via Orphanet 70 C0220633 C0346373
ICD10 via Orphanet 34 C69.3
UMLS 69 C0220633

Summaries for Uveal Melanoma

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

MalaCards based summary : Uveal Melanoma, also known as malignant melanoma of choroid, is related to posterior uveal melanoma and malignant iris melanoma, and has symptoms including metamorphopsia, mydriasis and retinal detachment. An important gene associated with Uveal Melanoma is GNAQ (G Protein Subunit Alpha Q), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Triamcinolone and Ranibizumab have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and homeostasis/metabolism

Wikipedia : 71 Uveal melanoma is a cancer (melanoma) of the eye involving the iris, ciliary body, or choroid... more...

Related Diseases for Uveal Melanoma

Diseases in the Uveal Melanoma family:

Melanoma, Uveal 2 Melanoma, Uveal 1
Posterior Uveal Melanoma

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

(show top 50) (show all 102)
id Related Disease Score Top Affiliating Genes
1 posterior uveal melanoma 12.2
2 malignant iris melanoma 12.1
3 necrotic uveal melanoma 12.1
4 malignant choroid melanoma 12.1
5 melanoma, uveal 2 12.0
6 melanoma, uveal 1 12.0
7 mixed cell uveal melanoma 12.0
8 ocular melanoma 11.4
9 tumor predisposition syndrome 11.2
10 melanoma 11.1
11 uveal epithelioid cell melanoma 11.0
12 x-linked intellectual disability, shashi type 10.4 GNA11 GNAQ
13 house allergic alveolitis 10.4 CDK4 CDKN2A MET
14 well-differentiated thymic neuroendocrine carcinoma 10.4 BAP1 BRAF
15 melanoma, cutaneous malignant 8 10.4 MITF TYR
16 aortic aneurysm 10.4 CDK4 CDKN2A VEGFC
17 vulval paget's disease 10.4 CDKN2A NRAS TYR
18 integumentary system benign neoplasm 10.3 CDK4 CDKN2A GNA11 GNAQ
19 lung mucoepidermoid carcinoma 10.3 BRAF MITF NRAS
20 post-surgical hypoinsulinemia 10.3 CDK4 CDKN2A GNA11 GNAQ
21 thoracic outlet syndrome 10.3 CDK4 CDKN2A GNA11 GNAQ
22 stomach diverticulosis 10.3 BRAF S100B TYR
23 ossifying fibromyxoid tumor 10.3 CDK4 CDKN2A NRAS
24 monostotic fibrous dysplasia 10.3 BRAF CDKN2A S100B
25 epilepsy, progressive myoclonic 5 10.3 MITF TYR
26 mediastinitis 10.3 MITF PMEL
27 gallbladder pleomorphic giant cell adenocarcinoma 10.3 CDKN2A GNA11 GNAQ NRAS
28 adult epithelioid sarcoma 10.3 CDKN2A GNA11 GNAQ NRAS
29 acute disseminated encephalomyelitis 10.3 BRAF CDKN2A MET NRAS
30 pathologic nystagmus 10.3 CDKN2A MITF S100B
31 craniosynostosis 6 10.3 MITF PMEL TYR
32 sengers syndrome 10.3 CDKN2A MET S100B
33 onychocytic matricoma 10.3 IGF1R MMP2 S100B
34 neurocutaneous melanosis, somatic 10.3 MC1R NRAS TYR
35 mitochondrial encephalomyopathy 10.3 CDKN2A MC1R MMP2
36 non-distal monosomy 10q 10.3 BRAF CDKN2A MET NRAS
37 glucose-6-phosphate translocase deficiency 10.3 CDK4 CDKN2A IGF1R MET
38 facial hemiatrophy 10.3 BAP1 CDKN2A MC1R NRAS
39 maxillary sinus cholesteatoma 10.3 CDKN2A MMP2 VEGFC
40 metagonimiasis 10.3 MET MMP2 VEGFC
41 traumatic brain injury 10.3 CDKN2A MMP2 VEGFC
42 verrucous papilloma 10.3 MITF NRAS PMEL TYR
43 hypotrichosis 8 10.3 CDK4 CDKN2A IGF1R MET MMP2
44 grade iii astrocytoma 10.3 CDK4 CDKN2A MMP2 S100B
45 vulvar proximal-type epithelioid sarcoma 10.3 BAP1 CDKN2A MET
46 leukoencephalopathy palmoplantar keratoderma 10.3 MC1R MITF MMP2 S100B
47 glomeruloid hemangioma 10.3 BRAF CDK4 CDKN2A NRAS TIMP3
48 facial nerve disease 10.3 BAP1 GNA11 GNAQ NRAS S100B
49 hypogonadotropic hypogonadism 20 with or without anosmia 10.3 CDK4 CDKN2A MMP2 VEGFC
50 fallopian tube adenofibroma 10.3 BAP1 GNA11 GNAQ NRAS S100B

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



Diseases related to Uveal Melanoma

Symptoms & Phenotypes for Uveal Melanoma

Human phenotypes related to Uveal Melanoma:

56 32 (show all 18)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 metamorphopsia 56 32 Occasional (29-5%) HP:0012508
2 mydriasis 56 32 Occasional (29-5%) HP:0011499
3 retinal detachment 56 32 Frequent (79-30%) HP:0000541
4 visual loss 56 32 Very frequent (99-80%) HP:0000572
5 inflammatory abnormality of the eye 56 32 Very rare (<4-1%) HP:0100533
6 ocular pain 56 32 Very rare (<4-1%) HP:0200026
7 increased intraocular pressure 56 32 Occasional (29-5%) HP:0007906
8 choroidal melanoma 56 32 Very frequent (99-80%) HP:0012054
9 iris melanoma 56 32 Frequent (79-30%) HP:0011524
10 ciliary body melanoma 56 32 Frequent (79-30%) HP:0012055
11 abnormality of refraction 56 32 Occasional (29-5%) HP:0000539
12 vitreous hemorrhage 56 32 Occasional (29-5%) HP:0007902
13 inferior lens subluxation 56 32 Occasional (29-5%) HP:0008494
14 zonular cataract 56 32 Occasional (29-5%) HP:0010920
15 photopsia 56 32 Occasional (29-5%) HP:0030786
16 abnormal visual accommodation 56 32 Occasional (29-5%) HP:0030800
17 abnormality of the fundus 56 Very frequent (99-80%)
18 intraocular melanoma 32 HP:0007716

GenomeRNAi Phenotypes related to Uveal Melanoma according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.91 CDH5 IGF1R
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.91 IGF1R
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.91 TIMP3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-175 9.91 CDH5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.91 CDH5
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.91 CDH5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.91 GNA11
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-59 9.91 TIMP3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.91 IGF1R
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 9.91 CDH5
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.91 GNA11
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 9.91 TIMP3 CDH5 GNA11 IGF1R
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.91 TIMP3
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.91 GNA11
15 Decreased cell migration GR00055-A-1 9.55 BRAF CDK4 IGF1R MET VEGFC
16 Decreased substrate adherent cell growth GR00193-A-1 9.32 IGF1R MET
17 Decreased substrate adherent cell growth GR00193-A-2 9.32 CDK4
18 Decreased substrate adherent cell growth GR00193-A-3 9.32 BRAF CDK4 MET
19 Decreased substrate adherent cell growth GR00193-A-4 9.32 BRAF CDK4 IGF1R MET

MGI Mouse Phenotypes related to Uveal Melanoma:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.53 MMP2 NRAS PMEL S100B SF3B1 TIMP3
2 cardiovascular system MP:0005385 10.49 BAP1 BRAF CDH5 CDK4 CDKN2A CYSLTR2
3 immune system MP:0005387 10.49 BAP1 BRAF CDH5 CDK4 CDKN2A CYSLTR2
4 growth/size/body region MP:0005378 10.45 CDH5 CDK4 CDKN2A GNA11 GNAQ IGF1R
5 behavior/neurological MP:0005386 10.44 MC1R MET MITF NRAS S100B TIMP3
6 hematopoietic system MP:0005397 10.43 BAP1 BRAF CDH5 CDK4 CDKN2A GNA11
7 integument MP:0010771 10.43 BAP1 BRAF CDH5 CDK4 CDKN2A CYSLTR2
8 endocrine/exocrine gland MP:0005379 10.4 BAP1 BRAF CDH5 CDK4 CDKN2A GNA11
9 cellular MP:0005384 10.39 BAP1 BRAF CDH5 CDK4 CDKN2A IGF1R
10 mortality/aging MP:0010768 10.38 TYR VEGFC BAP1 BRAF CDH5 CDK4
11 craniofacial MP:0005382 10.35 MC1R MET MITF MMP2 NRAS TYR
12 embryo MP:0005380 10.29 BRAF CDH5 CDK4 CDKN2A IGF1R MET
13 muscle MP:0005369 10.16 MMP2 TIMP3 BAP1 BRAF CDK4 CDKN2A
14 liver/biliary system MP:0005370 10.15 BRAF CDH5 CDK4 CDKN2A GNA11 IGF1R
15 digestive/alimentary MP:0005381 10.14 BAP1 BRAF CDK4 CDKN2A IGF1R MET
16 neoplasm MP:0002006 10.13 BAP1 BRAF CDK4 CDKN2A IGF1R MC1R
17 hearing/vestibular/ear MP:0005377 10.11 IGF1R MC1R MITF TYR BRAF GNA11
18 limbs/digits/tail MP:0005371 10.11 GNA11 GNAQ IGF1R MC1R MET MITF
19 normal MP:0002873 10.11 BRAF CDH5 CDK4 GNA11 GNAQ MET
20 pigmentation MP:0001186 10.06 GNA11 GNAQ MC1R MITF NRAS PMEL
21 no phenotypic analysis MP:0003012 10.01 BAP1 CDKN2A MC1R MET MITF NRAS
22 respiratory system MP:0005388 9.85 BAP1 BRAF CDKN2A CYSLTR2 GNA11 GNAQ
23 renal/urinary system MP:0005367 9.8 BRAF CDK4 GNA11 GNAQ MET TIMP3
24 skeleton MP:0005390 9.61 MITF MMP2 SF3B1 TYR BRAF CDKN2A
25 vision/eye MP:0005391 9.36 BRAF CDH5 CDK4 CDKN2A MET MITF

Drugs & Therapeutics for Uveal Melanoma

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

(show top 50) (show all 179)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 124-94-7 31307
2
Ranibizumab Approved Phase 4,Phase 2,Phase 3 347396-82-1 459903
3 triamcinolone acetonide Phase 4,Phase 2,Phase 3
4 glucocorticoids Phase 4,Phase 2,Phase 3
5 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
6 Triamcinolone diacetate Phase 4,Phase 2,Phase 3
7 Triamcinolone hexacetonide Phase 4,Phase 2,Phase 3
8 Hormones Phase 4,Phase 2,Phase 3,Phase 1
9 Angiogenesis Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
11 Angiogenesis Modulating Agents Phase 4,Phase 2,Phase 3,Phase 1
12 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Anti-Inflammatory Agents Phase 4,Phase 2,Phase 3
14
Dacarbazine Approved, Investigational Phase 3,Phase 2,Phase 1 4342-03-4 5351166
15
Melphalan Approved Phase 3,Phase 2 148-82-3 4053 460612
16
Pembrolizumab Approved Phase 3,Phase 2,Phase 1 1374853-91-4
17
Fotemustine Experimental Phase 3
18 Alkylating Agents Phase 3,Phase 2,Phase 1
19 Immunoglobulins Phase 3,Phase 2,Phase 1,Early Phase 1
20 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1,Early Phase 1
21 Antibodies Phase 3,Phase 2,Phase 1,Early Phase 1
22 Antineoplastic Agents, Alkylating Phase 3,Phase 2,Phase 1
23
Imidazole Phase 3,Phase 2 288-32-4 795
24 Vaccines Phase 3,Phase 2,Phase 1
25 Liver Extracts Phase 3,Phase 2,Phase 1,Early Phase 1
26
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
27
Tamoxifen Approved Phase 2 10540-29-1 2733526
28
Sorafenib Approved, Investigational Phase 2,Phase 1 284461-73-0 216239 406563
29
Temozolomide Approved, Investigational Phase 2,Phase 1 85622-93-1 5394
30
Sunitinib Approved, Investigational Phase 2,Phase 1 341031-54-7, 557795-19-4 5329102
31
Bevacizumab Approved, Investigational Phase 2 216974-75-3
32
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
33
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
34
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 498142 38904
35
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
36
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Leuprolide Approved, Investigational Phase 2 53714-56-0 3911 657181
39
Everolimus Approved Phase 2 159351-69-6 6442177
40
Lomustine Approved Phase 2 13010-47-4 3950
41
Vorinostat Approved, Investigational Phase 2,Early Phase 1 149647-78-9 5311
42
Trametinib Approved Phase 2,Phase 1 871700-17-3 11707110
43
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
44
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
45
Peginterferon alfa-2b Approved Phase 2 99210-65-8, 215647-85-1
46
Pancrelipase Approved Phase 2 53608-75-6
47
Ethiodized oil Approved Phase 2 8008-53-5
48
Aluminum hydroxide Approved Phase 2 21645-51-2
49
Somatostatin Approved Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
50
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121

Interventional clinical trials:

(show top 50) (show all 135)
id Name Status NCT ID Phase
1 Intravitreal Ranibizumab for the Prevention of Radiation Maculopathy Following Plaque Radiotherapy Unknown status NCT00540930 Phase 4
2 TTT Versus TTT and Triamcinolone to Decrease Exudation in Choroidal Melanoma After Proton Beam Therapy Active, not recruiting NCT02379000 Phase 4
3 Treatment Of Radiation Retinopathy Trial Unknown status NCT00811200 Phase 2, Phase 3
4 Collaborative Ocular Melanoma Study (COMS) Unknown status NCT00000124 Phase 3
5 Selumetinib (AZD6244: ARRY-142886) (Hyd-Sulfate) in Metastatic Uveal Melanoma (SUMIT) Completed NCT01974752 Phase 3
6 Hepatic Arterial Infusion With Melphalan Compared With Standard Therapy in Treating Patients With Unresectable Liver Metastases Due to Melanoma Completed NCT00324727 Phase 3
7 Dendritic Cells Plus Autologous Tumor RNA in Uveal Melanoma Recruiting NCT01983748 Phase 3
8 The Scandinavian Randomized Controlled Trial of Isolated Hepatic Perfusion for Uveal Melanoma Liver Metastases Recruiting NCT01785316 Phase 3
9 Percutaneous Hepatic Perfusion vs Best Alternative Care in Patients With Hepatic-dominant Ocular Melanoma Recruiting NCT02678572 Phase 3
10 Comparison Between Fotemustin to Intensive Surveillance in Patients With High Risk Uveal Melanoma Active, not recruiting NCT02843386 Phase 3
11 Intravenous or Hepatic Arterial Infusion of Fotemustine in Treating Patients With Unresectable Liver Metastases From Eye Melanoma Terminated NCT00110123 Phase 3
12 Vaccine Therapy in Treating Patients With Melanoma of the Eye Terminated NCT00036816 Phase 3
13 A Study of Sorafenib in Patients With Chemonaive Metastatic Uveal Melanoma Unknown status NCT01377025 Phase 2
14 Study of AntiCTLA4 in Patients With Unresectable or Metastatic Uveal Melanoma Unknown status NCT01034787 Phase 2
15 Temozolomide and Bevacizumab in Treating Patients With Metastatic Melanoma of the Eye Unknown status NCT01217398 Phase 2
16 Sunitinib, Tamoxifen, and Cisplatin in Treating Patients With High-Risk Ocular Melanoma Unknown status NCT00489944 Phase 2
17 Safety and Efficacy of Marqibo in Metastatic Malignant Uveal Melanoma Completed NCT00506142 Phase 2
18 RAD001 (Everolimus) and Pasireotide (SOM230) LAR in Patients With Advanced Uveal Melanoma Completed NCT01252251 Phase 2
19 Study Multicentre Evaluating the Effectiveness and Toxicity Sorafenib (Nexavar®) in Adult Patients With Uveal Melanoma and Metastatic Dissemination Completed NCT02517736 Phase 2
20 Halt Growth of Liver Tumors From Uveal Melanoma With Closure of Liver Artery Following Injection of GM-CSF Completed NCT00661622 Phase 2
21 Paclitaxel Albumin-Stabilized Nanoparticle Formulation in Treating Patients With Metastatic Melanoma of the Eye That Cannot Be Removed By Surgery Completed NCT00738361 Phase 2
22 Temozolomide or Selumetinib in Treating Patients With Metastatic Melanoma of the Eye Completed NCT01143402 Phase 2
23 Cixutumumab in Treating Patients With Metastatic Melanoma of the Eye Completed NCT01413191 Phase 2
24 Sorafenib, Carboplatin, and Paclitaxel in Treating Patients With Stage IV Melanoma of the Eye Completed NCT00329641 Phase 2
25 Vaccine Therapy With or Without Interleukin-12 in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00003339 Phase 2
26 Monoclonal Antibody Therapy and Vaccine Therapy in Treating Patients With Resected Stage III or Stage IV Melanoma Completed NCT00084656 Phase 2
27 Temozolomide and Interferon Alfa in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00027742 Phase 2
28 Vaccine Therapy in Treating Patients With Metastatic Melanoma Completed NCT00334776 Phase 2
29 PEG-Interferon Alfa-2b and Thalidomide in Treating Patients With Recurrent or Metastatic Melanoma Completed NCT00238329 Phase 2
30 Vaccine Therapy in Treating Patients With Metastatic Melanoma of the Eye Completed NCT00020475 Phase 2
31 Vaccine Therapy in Treating Patients With Stage III or Stage IV Melanoma That Cannot Be Removed By Surgery Completed NCT00089206 Phase 2
32 Vaccine Therapy in Treating Patients With Stage IIIB, Stage IIIC, or Stage IV Melanoma Completed NCT00089219 Phase 1, Phase 2
33 Temozolomide and Thalidomide in Treating Patients With Stage III or Stage IV Melanoma Completed NCT00005815 Phase 1, Phase 2
34 Pyrazoloacridine in Treating Patients With Metastatic Skin or Eye Melanoma Completed NCT00003802 Phase 2
35 Vaccine Therapy and Monoclonal Antibody Therapy in Treating Patients With Stage IV Melanoma Completed NCT00032045 Phase 2
36 Vaccine Therapy and Interleukin-12 With Either Alum or Sargramostim After Surgery in Treating Patients With Melanoma Completed NCT00031733 Phase 2
37 Monoclonal Antibody Therapy and Interleukin-2 in Treating Patients With Metastatic Melanoma Completed NCT00058279 Phase 1, Phase 2
38 Temozolomide, Thalidomide, and Lomustine in Treating Patients With Unresectable Stage III or Stage IV Melanoma Completed NCT00072345 Phase 2
39 Melanoma Vaccine With Peptides and Leuprolide Completed NCT00254397 Phase 2
40 Vorinostat in Treating Patients With Metastatic or Unresectable Melanoma Completed NCT00121225 Phase 2
41 Vaccine Therapy in Treating Patients With Stage IIC-IV Melanoma Completed NCT00085189 Phase 2
42 VEGF Trap in Treating Patients With Recurrent Stage III or Stage IV Melanoma That Cannot Be Removed by Surgery Completed NCT00450255 Phase 2
43 AZD2171 in Treating Patients With Recurrent or Stage IV Melanoma Completed NCT00243061 Phase 2
44 Bortezomib, Paclitaxel, and Carboplatin in Treating Patients With Metastatic Melanoma Completed NCT00288041 Phase 2
45 Interferon Beta in Treating Patients With Metastatic Cutaneous Melanoma or Ocular Melanoma Completed NCT00085306 Phase 2
46 Liver Transplantation and Uveal Malignant Melanoma Completed NCT01311466 Phase 2
47 Hepatic Arterial Infusion of Melphalan With Hepatic Perfusion in Treating Patients With Unresectable Liver Cancer Completed NCT00096083 Phase 2
48 Taxoprexin® Treatment for Advanced Eye Melanoma Completed NCT00244816 Phase 2
49 THE IPI - Trial in Advanced Melanoma: Melanoma Patients With Advanced Disease Completed NCT01355120 Phase 2
50 Yttrium90, Ipilimumab, & Nivolumab for Uveal Melanoma With Liver Metastases Recruiting NCT02913417 Phase 1, Phase 2

Search NIH Clinical Center for Uveal Melanoma

Cochrane evidence based reviews: uveal melanoma

Genetic Tests for Uveal Melanoma

Genetic tests related to Uveal Melanoma:

id Genetic test Affiliating Genes
1 Melanoma, Uveal 24 GNA11 GNAQ

Anatomical Context for Uveal Melanoma

MalaCards organs/tissues related to Uveal Melanoma:

39
Eye, Retina, Liver, Testes, Endothelial, Monocytes, T Cells

Publications for Uveal Melanoma

Articles related to Uveal Melanoma:

(show top 50) (show all 567)
id Title Authors Year
1
Anti-PD1 treatment in metastatic uveal melanoma in the Netherlands. ( 27911126 )
2017
2
The Long Non-Coding RNA RHPN1-AS1 Promotes Uveal Melanoma Progression. ( 28124977 )
2017
3
Prognostic value of apoptosis inducing factor in uveal melanoma. ( 28043154 )
2017
4
Prognostic Implications of the Largest Basal Tumor Diameter vs the TNM Staging System in Association With the Gene Expression Profile for Uveal Melanoma. ( 28056132 )
2017
5
Immunotherapy of Uveal Melanoma: Vaccination Against Cancer. ( 27987156 )
2017
6
Ocular oncology: advances in retinoblastoma, uveal melanoma and conjunctival melanoma. ( 28069617 )
2017
7
Prognostic Implications of the Largest Basal Tumor Diameter vs the TNM Staging System in Association With the Gene Expression Profile for Uveal Melanoma-Reply. ( 28056125 )
2017
8
Lentiviral-mediated overexpression of KCTD12 inhibits the proliferation of human uveal melanoma OCM-1 cells. ( 28000887 )
2017
9
Dual inhibition of protein kinase C and p53-MDM2 or PKC and mTORC1 are novel efficient therapeutic approaches for uveal melanoma. ( 27507190 )
2016
10
Prognostication of Uveal Melanoma: A Work in Progress. ( 27124594 )
2016
11
Uveal Melanoma Mimicking Advanced Coats' Disease in a Young Patient. ( 27239453 )
2016
12
SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas. ( 26769193 )
2016
13
Clinical application of genetic testing for posterior uveal melanoma. ( 27847622 )
2016
14
Association of tumor and plasma microRNA expression with tumor monosomy-3 in patients with uveal melanoma. ( 27453764 )
2016
15
Driver Mutations in Uveal Melanoma: Associations With Gene Expression Profile and Patient Outcomes. ( 27123562 )
2016
16
More than Meets the Eye: Metastatic Uveal Melanoma. ( 27138426 )
2016
17
Metastatic disease from uveal melanoma: treatment options and future prospects. ( 27574175 )
2016
18
Uveal melanoma: relatively rare but deadly cancer. ( 27911450 )
2016
19
Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations. ( 27116551 )
2016
20
Isolated (hypoxic) hepatic perfusion with high-dose chemotherapy in patients with unresectable liver metastases of uveal melanoma: results from two experienced centres. ( 27513071 )
2016
21
23-mm iodine-125 plaque for uveal melanoma: benefit of vitrectomy and silicone oil on visual acuity. ( 27638702 )
2016
22
Clinicopathological Characteristics and Prognosis for Survival after Enucleation of Uveal Melanoma in Chinese Patients: Long-term Follow-up. ( 27911584 )
2016
23
WE-FG-BRA-10: Radiodosimetry of a Novel Alpha Particle Therapy Targeted to Uveal Melanoma: Absorbed Dose to Organs in Mice. ( 28048872 )
2016
24
In vivo Confocal Microscopy in Differentiating Ipilimumab-Induced Anterior Uveitis from Metastatic Uveal Melanoma. ( 27790127 )
2016
25
Expression of natural killer cell regulatory microRNA by uveal melanoma cancer stem cells. ( 27565163 )
2016
26
The genetics of uveal melanoma: current insights. ( 27660484 )
2016
27
Prognostic Implications of Tumor Diameter in Association With Gene Expression Profile for Uveal Melanoma. ( 27123792 )
2016
28
P2RX7-V3 is a novel oncogene that promotes tumorigenesis in uveal melanoma. ( 27468714 )
2016
29
Nanomedicine in the application of uveal melanoma. ( 27588278 )
2016
30
Adjuvant Dendritic Cell Vaccination in High-Risk Uveal Melanoma. ( 27476772 )
2016
31
BRAF V600E-dependent role of autophagy in uveal melanoma. ( 27928645 )
2016
32
Genetic markers of pigmentation are novel risk loci for uveal melanoma. ( 27499155 )
2016
33
Tumor Characteristics, Genetics, Management, and the Risk of Metastasis in Uveal Melanoma. ( 27128983 )
2016
34
[Expression of EphA2 in Metastatic and Non-Metastatic Primary Uveal Melanoma]. ( 26854480 )
2016
35
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4. ( 26683228 )
2016
36
Proton therapy for the management of uveal melanoma and other ocular tumors. ( 27558251 )
2016
37
Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal Melanoma. ( 27532663 )
2016
38
Genetic Variants of the BTNL2 Gene in Uveal Melanoma. ( 27533527 )
2016
39
Novel mouse model for primary uveal melanoma: a pilot study. ( 27505446 )
2016
40
Assessing Prognosis in Uveal Melanoma. ( 27218785 )
2016
41
PAUPAR lncRNA suppresses tumourigenesis by H3K4 demethylation in uveal melanoma. ( 27214741 )
2016
42
Uveal Melanoma Cell Lines: Where do they come from? (An American Ophthalmological Society Thesis). ( 28018010 )
2016
43
Oncogenic role of microRNAa8920a in human uveal melanoma. ( 27356499 )
2016
44
ADAM 10 expression in primary uveal melanoma as prognostic factor for risk of metastasis. ( 27546281 )
2016
45
Two-year patient-reported outcomes following treatment of uveal melanoma. ( 27589051 )
2016
46
Overexpression of Annexin II Receptor-Induced Autophagy Protects Against Apoptosis in Uveal Melanoma Cells. ( 27183438 )
2016
47
p63 is required beside p53 for PERP-mediated apoptosis in uveal melanoma. ( 27584665 )
2016
48
Antiangiogenic or corticosteroid treatment in patients with radiation maculopathy after proton beam therapy for uveal melanoma: Anti-VEGFs versus corticosteroids for radiation maculopathy. ( 27163234 )
2016
49
Analysis of caveolin-1 and phosphoinositol-3 kinase expression in primary uveal melanomas. ( 26590370 )
2016
50
HIC1 modulates uveal melanoma progression by activating lncRNA-numb. ( 27449031 )
2016

Variations for Uveal Melanoma

Copy number variations for Uveal Melanoma from CNVD:

7 (show all 33)
id CNVD ID Chromosom 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 CTGF 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 DDEF1 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 GDF-15 Uveal melanoma
33 240624 8 52800000 55600000 Gain RP1 Uveal melanoma

Expression for Uveal Melanoma

Search GEO for disease gene expression data for Uveal Melanoma.

Pathways for Uveal Melanoma

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

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.79 BRAF CDH5 CDK4 CDKN2A GNA11 IGF1R
2
Show member pathways
13.64 BRAF CDK4 CDKN2A GNA11 IGF1R MET
3
Show member pathways
13.19 BRAF CDH5 IGF1R MET NRAS TIMP3
4
Show member pathways
12.96 GNA11 IGF1R MET NRAS TIMP3 VEGFC
5
Show member pathways
12.96 BRAF GNA11 IGF1R MET NRAS TIMP3
6
Show member pathways
12.86 BRAF CDK4 CDKN2A IGF1R MET MITF
7
Show member pathways
12.61 BRAF GNAQ IGF1R MET NRAS VEGFC
8 12.49 CDK4 IGF1R MET NRAS VEGFC
9
Show member pathways
12.31 BRAF GNA11 GNAQ NRAS
10
Show member pathways
12.23 GNAQ MC1R MITF NRAS TYR
11
Show member pathways
12.17 BRAF MITF NRAS TIMP3
12 12.11 BRAF IGF1R MET MMP2 NRAS TIMP3
13
Show member pathways
12.09 BRAF CDK4 IGF1R MET
14
Show member pathways
11.99 BRAF CDK4 CDKN2A NRAS
15 11.96 BRAF CDK4 CDKN2A GNA11 GNAQ IGF1R
16 11.81 CDK4 MMP2 NRAS VEGFC
17 11.81 BRAF CDK4 CDKN2A IGF1R NRAS
18 11.77 BRAF GNA11 GNAQ
19 11.7 CDH5 MMP2 TIMP3 VEGFC
20 11.58 GNA11 GNAQ MMP2
21 11.57 BRAF CDK4 GNAQ IGF1R
22 11.55 IGF1R MMP2 TIMP3
23 11.49 BRAF GNA11 GNAQ IGF1R NRAS TIMP3
24 11.42 BRAF CDK4 CDKN2A MMP2 NRAS
25 11.24 GNA11 GNAQ MET
26 11.22 GNA11 GNAQ NRAS
27 11.13 BRAF GNA11 GNAQ IGF1R NRAS

GO Terms for Uveal Melanoma

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

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.96 BRAF CDK4 CYSLTR2 GNA11 GNAQ IGF1R
2 pigmentation GO:0043473 9.5 MC1R MITF TYR
3 G-protein coupled acetylcholine receptor signaling pathway GO:0007213 9.48 GNA11 GNAQ
4 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.46 GNA11 GNAQ
5 phototransduction, visible light GO:0007603 9.43 GNA11 GNAQ
6 blood vessel maturation GO:0001955 9.4 CDH5 MMP2
7 entrainment of circadian clock GO:0009649 9.37 GNA11 GNAQ
8 regulation of melanocyte differentiation GO:0045634 9.16 GNA11 GNAQ
9 developmental pigmentation GO:0048066 9.13 GNA11 GNAQ PMEL
10 melanin biosynthetic process GO:0042438 8.8 MC1R PMEL TYR

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

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.58 BAP1 BRAF CDH5 CDK4 CDKN2A CYSLTR2
2 type 2A serotonin receptor binding GO:0031826 8.96 GNA11 GNAQ

Sources for Uveal Melanoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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