MCID: MLN046
MIFTS: 24

Melanoma-Associated Retinopathy

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Melanoma-Associated Retinopathy

MalaCards integrated aliases for Melanoma-Associated Retinopathy:

Name: Melanoma-Associated Retinopathy 53 73

Classifications:



External Ids:

UMLS 73 C0730308

Summaries for Melanoma-Associated Retinopathy

NIH Rare Diseases : 53 Melanoma-associated retinopathy (MAR) is a rare autoimmune condition that occurs in some people with melanoma (a type of skin cancer) and can affect the vision. Signs and symptoms of MAR may include night blindness; photopsia (presence of perceived flashes of light); and progressive, painless vision loss. MAR occurs when the body's immune system, in response to melanoma, mistakenly attacks the cells of the retina; however, it is poorly understood why this autoimmune response occurs in some people but not others. There is, unfortunately, no established treatment for MAR. Proposed strategies for treatment include immunosuppressive medications and/or standard treatment of the melanoma (i.e. surgery, chemotherapy, and/or radiation therapy).

MalaCards based summary : Melanoma-Associated Retinopathy is related to night blindness and autoimmune retinopathy. An important gene associated with Melanoma-Associated Retinopathy is ALDOA (Aldolase, Fructose-Bisphosphate A), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include retina, skin and small intestine, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Melanoma-Associated Retinopathy

Diseases related to Melanoma-Associated Retinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 night blindness 28.0 RHO SAG TRPM1
2 autoimmune retinopathy 11.2
3 melanoma 10.5
4 retinitis 10.0
5 macular dystrophy, dominant cystoid 9.8
6 macular retinal edema 9.8
7 chorioretinitis 9.8
8 pineocytoma 9.5 RHO SAG
9 bardet-biedl syndrome 5 9.4 RHO SAG
10 cancer-associated retinopathy 9.4 RHO SAG
11 hereditary night blindness 9.4 RHO SAG
12 pineal parenchymal tumor of intermediate differentiation 9.3 RHO SAG
13 fundus albipunctatus 9.2 RHO SAG
14 retinal disease 9.1 RHO SAG
15 retinal degeneration 8.9 RHO SAG
16 congenital stationary night blindness 8.9 RHO SAG TRPM1

Graphical network of the top 20 diseases related to Melanoma-Associated Retinopathy:



Diseases related to Melanoma-Associated Retinopathy

Symptoms & Phenotypes for Melanoma-Associated Retinopathy

GenomeRNAi Phenotypes related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.53 ALDOA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.53 ALDOA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.53 ALDOA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.53 ALDOA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.53 ALDOA
6 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.53 TRPM1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.53 ALDOA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.53 TRPM1 ALDOA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.53 ALDOA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.53 ALDOA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.53 TRPM1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.53 TRPM1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 TRPM1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.53 TRPM1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.53 ALDOA

Drugs & Therapeutics for Melanoma-Associated Retinopathy

Search Clinical Trials , NIH Clinical Center for Melanoma-Associated Retinopathy

Genetic Tests for Melanoma-Associated Retinopathy

Anatomical Context for Melanoma-Associated Retinopathy

MalaCards organs/tissues related to Melanoma-Associated Retinopathy:

41
Retina, Skin, Small Intestine

Publications for Melanoma-Associated Retinopathy

Articles related to Melanoma-Associated Retinopathy:

(show all 26)
# Title Authors Year
1
Is it melanoma-associated retinopathy or drug toxicity? Bilateral cystoid macular edema posing a diagnostic and therapeutic dilemma. ( 29780921 )
2018
2
Autoantibodies in Melanoma-Associated Retinopathy Recognize an Epitope Conserved Between TRPM1 and TRPM3. ( 28549093 )
2017
3
Melanoma-Associated Retinopathy 28 Years After Diagnosis. ( 28975251 )
2017
4
Chorioretinal Lesions in a Case of Melanoma-Associated Retinopathy Treated With Pembrolizumab. ( 27540851 )
2016
5
Melanoma associated retinopathy: A new dimension using adaptive optics. ( 26622144 )
2015
6
Autoantibodies to transient receptor potential cation channel, subfamily M, member 1 in a Japanese patient with melanoma-associated retinopathy. ( 24468869 )
2014
7
Serum TRPM1 autoantibodies from melanoma associated retinopathy patients enter retinal on-bipolar cells and attenuate the electroretinogram in mice. ( 23936334 )
2013
8
Delayed presentation of melanoma-associated retinopathy and subsequent resolution with cytoreduction surgery. ( 23794161 )
2013
9
Melanoma-associated retinopathy treated with ipilimumab therapy. ( 24051549 )
2013
10
Presumed melanoma-associated retinopathy (MAR): a presenting sign of primary small intestinal melanoma? ( 22527450 )
2012
11
Autoantibodies in melanoma-associated retinopathy target TRPM1 cation channels of retinal ON bipolar cells. ( 21411639 )
2011
12
Melanoma associated retinopathy and how to understand the electroretinogram. ( 21746709 )
2011
13
Melanoma-associated retinopathy report of a case and review. ( 22043551 )
2011
14
Melanoma-associated retinopathy associated with intranasal melanoma. ( 21537930 )
2011
15
Melanoma-associated retinopathy: a presenting sign of metastatic disease. ( 21679809 )
2011
16
Treatment of melanoma-associated retinopathy. ( 20842490 )
2010
17
Cancer-retina antigens as potential paraneoplastic antigens in melanoma-associated retinopathy. ( 18814277 )
2009
18
Melanoma-associated retinopathy: a paraneoplastic autoimmune complication. ( 20008709 )
2009
19
Optical coherence tomography findings in paraneoplastic pseudovitelliform lesions in melanoma-associated retinopathy. ( 19668738 )
2008
20
Improvement in visual fields in a patient with melanoma-associated retinopathy treated with intravenous immunoglobulin. ( 18347454 )
2008
21
Spontaneous improvement of rod system function in a patient with melanoma-associated retinopathy. ( 19343091 )
2008
22
Mitofilin and titin as target antigens in melanoma-associated retinopathy. ( 17131336 )
2007
23
SEREX identification of new tumor antigens linked to melanoma-associated retinopathy. ( 15523688 )
2005
24
Unusual aspects of melanoma. Case 3. Melanoma-associated retinopathy presenting with night blindness. ( 14966102 )
2004
25
Corticosteroid treatment for melanoma-associated retinopathy: effect on visual acuity and electrophysiologic findings. ( 15492190 )
2004
26
Melanoma-associated retinopathy versus abnormal retinal function due to interferon-alpha/Isotretinoin therapy in cutaneous malignant melanoma. ( 10859510 )
2000

Variations for Melanoma-Associated Retinopathy

Expression for Melanoma-Associated Retinopathy

Search GEO for disease gene expression data for Melanoma-Associated Retinopathy.

Pathways for Melanoma-Associated Retinopathy

GO Terms for Melanoma-Associated Retinopathy

Cellular components related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 RHO SAG
2 photoreceptor inner segment GO:0001917 8.62 RHO SAG

Biological processes related to Melanoma-Associated Retinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 RHO TRPM1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.16 RHO SAG
3 cellular response to light stimulus GO:0071482 8.96 RHO TRPM1
4 rhodopsin mediated signaling pathway GO:0016056 8.62 RHO SAG

Sources for Melanoma-Associated Retinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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