MCID: RDG001
MIFTS: 31

Red-Green Color Blindness malady

Categories: Genetic diseases (common), Eye diseases

Aliases & Classifications for Red-Green Color Blindness

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Aliases & Descriptions for Red-Green Color Blindness:

Name: Red-Green Color Blindness 11 23 13
Colorblindness, Partial, Deutan Series 66
Reduced Red-Green Discrimination 11
Color Blindness, Red-Green 66
 
Red Green Colorblindness 23
Deutan Defect 11
Deuteranopia 11

Classifications:



External Ids:

Disease Ontology11 DOID:13909
ICD1028 H53.53
SNOMED-CT60 246674000, 77479002
ICD9CM30 368.52
MeSH37 D003117

Summaries for Red-Green Color Blindness

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MalaCards based summary: Red-Green Color Blindness, also known as colorblindness, partial, deutan series, is related to colorblindness, deutan and stt3a-cdg, and has symptoms including visual disturbance An important gene associated with Red-Green Color Blindness is OPN1MW (Opsin 1 (Cone Pigments), Medium-Wave-Sensitive), and among its related pathways are Opsins and Phototransduction. Affiliated tissues include eye and testes, and related mouse phenotype hematopoietic system.

Related Diseases for Red-Green Color Blindness

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Diseases related to Red-Green Color Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
idRelated DiseaseScoreTop Affiliating Genes
1colorblindness, deutan11.3
2stt3a-cdg10.5ABCA4, CNGB3
3color blindness10.4
4pure red-cell aplasia10.4CNGB3, OPN1MW
5stargardt disease 110.4ABCA4, CNGB3
6patau syndrome10.3CNGB3, RHO
7creatine transporter deficiency10.3CNGB3, OPN1MW
8x-linked infantile nystagmus10.2ABCA4, CNGB3, RHO
9osteopoikilosis and dacryocystitis10.1ABCA4, RHO, RPE65
10colorblindness, protan10.1
11hypertrichotic osteochondrodysplasia10.1ABCA4, RHO, RPE65
12ichthyosis, congenital, autosomal recessive 310.1ABCA4, RHO, RPE65
13hyperinsulinism10.1ABCA4, RHO, RPE65
14carnitine deficiency, systemic primary10.0ABCA4, RHO, RPE65
15combined oxidative phosphorylation deficiency 310.0RHO, RPE65
16porokeratosis 9, multiple types10.0ABCA4, RHO, RPE65
17immunodeficiency 41 with lymphoproliferation and autoimmunity10.0ABCA4, RHO, RPE65
18localized scleroderma10.0ABCA4, RHO, RPE65
19bornholm eye disease9.9
20impetigo herpetiformis9.9ABCA4, RPE65
21tendinitis9.9ABCA4, CNGB3, RHO, RPE65
22limbal stem cell deficiency9.8ABCA4, RHO, RPE65
23ovarian embryonal carcinoma9.8ABCA4, CNGB3, RHO, RPE65
24posterior polar cataract9.8ABCA4, CNGB3, RHO, RPE65
25van buchem disease9.8ABCA4, RHO, RPE65
26macular degeneration, age-related, 19.3ABCA4, CD59, NLRP3, RHO, RPE65
27acute biphenotypic leukemia9.2CNGB3, OPN1MW, TEX28, TEX28P2
28waisman syndrome8.8CNGB3, OPN1MW, RHO, TEX28, TEX28P2
29lumbosacral plexus lesion8.6CNGB3, RHO, TEX28, TEX28P2, XG
30acquired color blindness6.1ABCA4, CD59, CNGB3, F8, NLRP3, OPN1MW

Graphical network of the top 20 diseases related to Red-Green Color Blindness:



Diseases related to red-green color blindness

Symptoms for Red-Green Color Blindness

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UMLS symptoms related to Red-Green Color Blindness:


visual disturbance

Drugs & Therapeutics for Red-Green Color Blindness

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Red-Green Color Blindness

Genetic Tests for Red-Green Color Blindness

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Genetic tests related to Red-Green Color Blindness:

id Genetic test Affiliating Genes
1 Red-Green Color Blindness23

Anatomical Context for Red-Green Color Blindness

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MalaCards organs/tissues related to Red-Green Color Blindness:

34
Eye, Testes

Animal Models for Red-Green Color Blindness or affiliated genes

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MGI Mouse Phenotypes related to Red-Green Color Blindness:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.7ABCA4, CD59, F8, NLRP3, RHO, RPE65

Publications for Red-Green Color Blindness

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Articles related to Red-Green Color Blindness:

idTitleAuthorsYear
1
Bicuculline produces reversible red-green color blindness in goldfish, as revealed by monocular behavioral testing. (1663295)
1991
2
Incidence of red-green color blindness in the Basque population. (2378506)
1990
3
Spectral characteristics of electroretinography in congenital red-green color blindness. (3498068)
1987
4
Spectral characteristics of early receptor potential in congenital red-green color blindness. (3488889)
1986
5
Criterion validity of four tests for red-green color blindness. (4536748)
1972
6
Red/green color blindness in the Niger delta. (5298588)
1967
7
Sex-linked nystagmus associated with red-green color-blindness. (17948382)
1949

Variations for Red-Green Color Blindness

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Clinvar genetic disease variations for Red-Green Color Blindness:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OPN1MWNM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg)single nucleotide variantPathogenicrs104894914GRCh37Chr X, 153457207: 153457207

Expression for genes affiliated with Red-Green Color Blindness

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Search GEO for disease gene expression data for Red-Green Color Blindness.

Pathways for genes affiliated with Red-Green Color Blindness

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GO Terms for genes affiliated with Red-Green Color Blindness

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Cellular components related to Red-Green Color Blindness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:009738110.4ABCA4, RHO
2photoreceptor outer segment membraneGO:004262210.0OPN1MW, RHO
3photoreceptor outer segmentGO:00017509.6ABCA4, CNGB3, OPN1MW, RHO
4integral component of plasma membraneGO:00058878.3ABCA4, CNGB3, OPN1MW, RHO, ST14, XG

Biological processes related to Red-Green Color Blindness according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.3OPN1MW, RHO
2phototransduction, visible lightGO:000760310.3ABCA4, RHO
3phototransductionGO:000760210.2OPN1MW, RHO
4protein-chromophore linkageGO:001829810.1OPN1MW, RHO
5photoreceptor cell maintenanceGO:00454949.7ABCA4, RHO
6response to light stimulusGO:00094169.6RHO, RPE65
7retinoid metabolic processGO:00015239.3ABCA4, OPN1MW, RHO, RPE65
8visual perceptionGO:00076018.5ABCA4, CNGB3, OPN1MW, RHO, RPE65

Molecular functions related to Red-Green Color Blindness according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:00080209.8OPN1MW, RHO

Sources for Red-Green Color Blindness

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet