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MCID: MLG061
MIFTS: 34

Malignant Choroid Melanoma

Categories: Cancer diseases, Neuronal diseases, Skin diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Malignant Choroid Melanoma

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MalaCards integrated aliases for Malignant Choroid Melanoma:

Name: Malignant Choroid Melanoma 12 15
Malignant Melanoma of Choroid 12
Melanoma of the Choroid 12

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases Skin diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:6438
NCIt 49 C4561
SNOMED-CT 67 255021005
UMLS 71 C0346388
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Summaries for Malignant Choroid Melanoma

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MalaCards based summary : Malignant Choroid Melanoma, also known as malignant melanoma of choroid, is related to malignant spindle cell melanoma and choroid spindle cell melanoma. An important gene associated with Malignant Choroid Melanoma is RPA1 (Replication Protein A1), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Nuclear Receptor transcription pathway. Affiliated tissues include eye, retina and testes, and related phenotypes are growth/size/body region and endocrine/exocrine gland

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Related Diseases for Malignant Choroid Melanoma

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

(show top 50) (show all 118)
# Related Disease Score Top Affiliating Genes
1 malignant spindle cell melanoma 29.2 SOX10 MLANA MITF
2 choroid spindle cell melanoma 11.4
3 melanoma, cutaneous malignant 10 10.7
4 melanoma 10.7
5 mucinous cystadenofibroma 10.4 SERPINA1 NAPSA
6 thymus adenocarcinoma 10.4 NAPSA CD5
7 melanoma, uveal 10.2
8 hypocalcemic vitamin d-dependent rickets 10.2 CYP2R1 CYP27B1
9 bronchiectasis 1 10.2 SERPINA1 ADIRF
10 ochronosis 10.2 NAA50 MITF
11 skin melanoma 10.2
12 hypercalcemia, infantile, 1 10.1 VDR CYP24A1
13 waardenburg syndrome type 4 10.1 SOX10 MITF
14 vitamin d-dependent rickets, type 2a 10.1 VDR CYP27B1
15 waardenburg syndrome, type 2c 10.1 SOX10 MITF
16 tuberculous epididymitis 10.1 VDR CYP27B1
17 thymus clear cell carcinoma 10.1 MLANA CD5
18 waardenburg syndrome, type 2b 10.1 SOX10 MITF
19 adult xanthogranuloma 10.1 SERPINA1 MITF
20 waardenburg syndrome, type 4c 10.1 SOX10 MITF
21 retinal detachment 10.0
22 chorioretinal scar 10.0
23 ocular melanoma 10.0
24 macular retinal edema 10.0
25 retinoblastoma 10.0
26 rubeosis iridis 10.0
27 familial retinoblastoma 10.0
28 waardenburg syndrome, type 2d 10.0 SOX10 MITF
29 conjunctival pigmentation 10.0 SOX10 MLANA
30 vagina leiomyosarcoma 10.0 MLANA ADIRF
31 albinism, ocular, with late-onset sensorineural deafness 10.0 SOX10 MITF
32 meningioma, radiation-induced 10.0
33 meningioma, familial 10.0
34 orbital cellulitis 10.0
35 spinal meningioma 10.0
36 acute closed-angle glaucoma 10.0
37 cellulitis 10.0
38 secretory meningioma 10.0
39 lymphoplasmacyte-rich meningioma 10.0
40 cataract 10.0
41 neurofibromatosis 10.0
42 exophthalmos 10.0
43 epithelioid malignant peripheral nerve sheath tumor 9.9 SOX10 MLANA
44 lentigo maligna melanoma 9.9 MLANA MITF
45 hypophosphatemic rickets, x-linked recessive 9.9 VDR CYP27B1 CYP24A1
46 phosphorus metabolism disease 9.9 VDR CYP27B1 CYP24A1
47 waardenburg syndrome, type 2e 9.9 SOX10 MITF
48 parathyroid gland disease 9.9 VDR CYP27B1 CYP24A1
49 pigmented basal cell carcinoma 9.9 MLANA MITF
50 mineral metabolism disease 9.9 VDR CYP27B1 CYP24A1

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



Diseases related to Malignant Choroid Melanoma
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Symptoms & Phenotypes for Malignant Choroid Melanoma

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MGI Mouse Phenotypes related to Malignant Choroid Melanoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.9 CYP24A1 CYP27A1 CYP27B1 MAPK14 MITF NAA50
2 endocrine/exocrine gland MP:0005379 9.86 CYP27A1 CYP27B1 MAPK14 MITF RORA RORC
3 homeostasis/metabolism MP:0005376 9.73 CYP24A1 CYP27A1 CYP27B1 CYP2R1 MAPK14 MITF
4 integument MP:0010771 9.23 CD5 CYP27B1 MAPK14 MITF MLANA RORA
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Drugs & Therapeutics for Malignant Choroid Melanoma

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Search Clinical Trials , NIH Clinical Center for Malignant Choroid Melanoma

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Genetic Tests for Malignant Choroid Melanoma

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Anatomical Context for Malignant Choroid Melanoma

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MalaCards organs/tissues related to Malignant Choroid Melanoma:

40
Eye, Retina, Testes, Brain, Skeletal Muscle, Breast, Skin
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Publications for Malignant Choroid Melanoma

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Articles related to Malignant Choroid Melanoma:

(show top 50) (show all 433)
# Title Authors PMID Year
1
NCCN Guidelines Insights: Uveal Melanoma, Version 1.2019. 61
32023525 2020
2
[Peripheral Exudative Hemorrhagic Chorioretinopathy (PEHCR) Simulating a Malignant Melanoma of the Choroid]. 61
30999344 2019
3
A Case of Adenocarcinoma of the Retinal Pigment Epithelium: An Immunohistochemical and Electron Microscopic Study. 61
29344497 2017
4
Contrast-enhanced ultrasound in the diagnosis of orbital space-occupying lesions. 61
28464984 2017
5
A case of choroidal melanocytoma mimicking a choroidal melanoma. 61
26155089 2015
6
[A varix of the vortex vein ampulla is a rare differential diagnosis of malignant melanoma of the choroid]. 61
25697172 2015
7
[Ophthalmological imaging with ultrahigh field magnetic resonance tomography: technical innovations and frontier applications]. 61
25519506 2014
8
Uveal melanoma in the peripheral choroid masquerading as chronic uveitis. 61
25036546 2014
9
Intraocular malignant melanoma of the choroid presenting as orbital cellulitis. 61
23918350 2014
10
Ocular malignant melanoma - a report of two cases. 61
25341837 2014
11
The first case of omental metastasis from primary choroidal melanoma. 61
23293369 2013
12
Echographic follow up of malignant melanoma of the choroid after brachytherapy with iodine-125. 61
23431728 2012
13
Cortical potentials after electrical intraneural stimulation of the optic nerve during orbital enucleation. 61
22890849 2012
14
[Choroidal melanoma stage T1 - comparison of the planning protocol for stereotactic radiosurgery and proton beam irradiation]. 61
23214488 2012
15
Choroidal melanoma with massive extraocular extensions through sclera. 61
23271890 2012
16
Clinicopathological correlation of choroidal melanoma in Indian population: A study of 113 cases. 61
22557876 2012
17
Local tumor control, visual acuity, and survival after hypofractionated stereotactic photon radiotherapy of choroidal melanoma in 212 patients treated between 1997 and 2007. 61
20675066 2011
18
[Clinico-epidemiological analysis of choroidal melanoma in Split Area, Croatia]. 61
22359894 2011
19
Malignant melanoma of the choroid in the eye with oculodermal melanocytosis of a Chinese woman. 61
21186017 2010
20
Choroidal melanoma metastasized to the ovary: case report and review of the literature. 61
20349795 2010
21
[Different indications of photodynamic therapy in ophthalmology]. 61
19603375 2009
22
Choroidal malignant melanoma in a 6-year-old girl without melanocytosis. 61
25389575 2009
23
[Immunohistochemical detection of the gene p53 and p21 expression in cells of the malignant melanoma of the uvea]. 61
18780655 2008
24
[Combined hamartoma of the retina and retinal pigment epithelium diagnosed by retinal angiography and optical coherence tomography]. 61
18311679 2008
25
Bifocal malignant melanoma of the choroid in a 1.5-year-old child. 61
25390098 2008
26
[The prevalence of bilateral malignant uveal melanoma]. 61
17952820 2007
27
Giant nodular posterior scleritis simulating choroidal melanoma. 61
16770031 2006
28
Choroidal neovascular membrane in a series of cases of malignant melanoma of the choroid. 61
16704692 2006
29
[Combined hamartoma of the retina and retinal pigment epithelium. Four case studies]. 61
16557165 2006
30
Pseudouveitis--analysis of cases misdiagnosed as posterior uveitis. 61
16507486 2006
31
Choroidal amelanotic melanoma in a patient with oculocutaneous albinism. 61
16391642 2005
32
[Symptomatic impairment of urine transport after malignant melanoma of the choroid]. 61
15322803 2005
33
Indocyanine green angiography and fluorescein angiography of malignant choroidal melanomas following proton beam irradiation. 61
15965675 2005
34
Malignant melanoma of the choroid associated with misdiagnosed ocular melanocytosis. 61
15715568 2005
35
Alterations of lymphocyte subpopulations in choroidal melanoma patients undergoing surgery. 61
16358985 2005
36
Noninvasive in vivo detection of prognostic indicators for high-risk uveal melanoma: ultrasound parameter imaging. 61
15019336 2004
37
Echographic follow-up of malignant melanoma of the choroid after brachytherapy with 106Ru. 61
14704943 2003
38
Nucleolar diameter and microvascular factors as independent predictors of mortality from malignant melanoma of the choroid and ciliary body. 61
12766034 2003
39
[Echographic findings in posterior scleritis]. 61
12825398 2003
40
Acute ultrastructural changes of the trabecular meshwork after selective laser trabeculoplasty and low power argon laser trabeculoplasty. 61
12949951 2003
41
[Prospective nonrandomised analysis of "Sandwich Therapy" for malignant melanoma of the choroid]. 61
12022003 2002
42
Use of bovine pericardium as a wrapping material for hydroxyapatite orbital implants. 61
11864885 2002
43
Variability of chromosomes in the VUP permanent cell line derived from uveal malignant melanoma. 61
12098005 2002
44
The level of total sialic acid, alfa-antitrypsin, ceruloplasmin in the serum of patients with choroidal melanoma. 61
12898929 2002
45
[Diagnosis and differential diagnosis of the combined hamartoma of the retina and retinal pigment epithelium]. 61
11731896 2001
46
Pseudoexfoliation syndrome in eyes with ischemic central retinal vein occlusion. A histopathologic and electron microscopic study. 61
11594982 2001
47
Unexpected autopsy findings arising from postmortem ocular examination. 61
11520270 2001
48
[Ultrasonography of choroidal melanoma]. 61
11512437 2001
49
Value of positron emission tomography in the diagnosis of malignant ocular tumors. 61
11340384 2001
50
Malignant melanoma of the choroid with vitiligo. 61
15887717 2001
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Variations for Malignant Choroid Melanoma

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Expression for Malignant Choroid Melanoma

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Search GEO for disease gene expression data for Malignant Choroid Melanoma.
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Pathways for Malignant Choroid Melanoma

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

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 36
11.61 VDR CYP27B1 CYP24A1
2
Nuclear Receptor transcription pathway 65
Show member pathways
 11.5 VDR RORC RORA
3
cholesterol biosynthesis III (via desmosterol) 1
Show member pathways
 11.38 CYP2R1 CYP27B1 CYP24A1
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
11.09 VDR CYP27B1 CYP24A1
5
Melanocyte Development and Pigmentation 63
10.94 SOX10 MITF MAPK14
6
Retinoic acid receptors-mediated signaling 1
10.83 VDR MAPK14
7
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.68 VDR CYP27B1 CYP24A1
8
Vitamin D Metabolism 1
10.02 VDR CYP2R1 CYP27B1 CYP27A1 CYP24A1
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GO Terms for Malignant Choroid Melanoma

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 VDR SOX10 RORA MITF MAPK14 ADIRF
2 oxidation-reduction process GO:0055114 9.99 DHDH CYP2R1 CYP27B1 CYP27A1 CYP24A1
3 xenobiotic metabolic process GO:0006805 9.72 RORC RORA CYP2R1
4 steroid hormone mediated signaling pathway GO:0043401 9.69 VDR RORC RORA
5 intracellular receptor signaling pathway GO:0030522 9.67 VDR RORC RORA
6 melanocyte differentiation GO:0030318 9.58 SOX10 MITF
7 positive regulation of keratinocyte differentiation GO:0045618 9.57 VDR CYP27B1
8 response to vitamin D GO:0033280 9.56 CYP27B1 CYP24A1
9 positive regulation of circadian rhythm GO:0042753 9.54 RORC RORA
10 regulation of transcription involved in cell fate commitment GO:0060850 9.52 RORC RORA
11 T-helper 17 cell differentiation GO:0072539 9.48 RORC RORA
12 vitamin D receptor signaling pathway GO:0070561 9.46 VDR CYP24A1
13 vitamin D catabolic process GO:0042369 9.43 CYP27B1 CYP24A1
14 cellular response to sterol GO:0036315 9.4 RORC RORA
15 regulation of steroid metabolic process GO:0019218 9.37 RORC RORA
16 vitamin metabolic process GO:0006766 9.33 CYP2R1 CYP27B1 CYP24A1
17 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.32 VDR CYP27B1
18 vitamin D biosynthetic process GO:0042368 9.26 CYP2R1 CYP27B1
19 calcitriol biosynthetic process from calciol GO:0036378 9.13 CYP2R1 CYP27B1 CYP27A1
20 vitamin D metabolic process GO:0042359 8.92 VDR CYP2R1 CYP27B1 CYP24A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.88 DHDH CYP2R1 CYP27B1 CYP27A1 CYP24A1
2 heme binding GO:0020037 9.67 CYP2R1 CYP27B1 CYP27A1 CYP24A1
3 steroid hormone receptor activity GO:0003707 9.63 VDR RORC RORA
4 iron ion binding GO:0005506 9.62 CYP2R1 CYP27B1 CYP27A1 CYP24A1
5 nuclear receptor activity GO:0004879 9.58 VDR RORC RORA
6 transcription coactivator binding GO:0001223 9.49 RORC RORA
7 monooxygenase activity GO:0004497 9.46 CYP2R1 CYP27B1 CYP27A1 CYP24A1
8 oxysterol binding GO:0008142 9.43 RORC RORA
9 vitamin D3 25-hydroxylase activity GO:0030343 9.26 CYP2R1 CYP27A1
10 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.13 VDR RORC RORA
11 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 8.92 CYP2R1 CYP27B1 CYP27A1 CYP24A1
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Sources for Malignant Choroid Melanoma

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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