MCID: RDG001
MIFTS: 29

Red-Green Color Blindness

Categories: Neuronal diseases

Aliases & Classifications for Red-Green Color Blindness

MalaCards integrated aliases for Red-Green Color Blindness:

Name: Red-Green Color Blindness 12 15 17
Colorblindness, Partial, Deutan Series 70
Reduced Red-Green Discrimination 12
Color Blindness, Red-Green 70
Deutan Defect 12
Deuteranopia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13909
ICD9CM 34 368.52
MeSH 44 D003117
SNOMED-CT 67 246674000
UMLS 70 C0155016 C3887938

Summaries for Red-Green Color Blindness

MalaCards based summary : Red-Green Color Blindness, also known as colorblindness, partial, deutan series, is related to color vision deficiency and yemenite deaf-blind hypopigmentation syndrome, and has symptoms including visual disturbance An important gene associated with Red-Green Color Blindness is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. Affiliated tissues include eye and retina, and related phenotypes are vision/eye and pigmentation

Related Diseases for Red-Green Color Blindness

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 31.4 OPN1LW CNGA3
2 yemenite deaf-blind hypopigmentation syndrome 30.5 RPE65 RHO ABCA4
3 colorblindness, partial, protan series 29.8 TEX28 SPRY3 RHO RENBP PDE6C OPN1LW
4 tritanopia 29.0 PDE6H PDE6C OPN1LW GNAT2 CNGB3 CNGA3
5 color blindness 28.4 RPGR RPE65 RHO PDE6H PDE6C OPN1LW
6 pathologic nystagmus 28.3 RPGR RPE65 RHO PDE6C OPN1LW GNAT2
7 colorblindness, partial, deutan series 11.5
8 bornholm eye disease 10.9
9 cone-rod dystrophy, x-linked, 2 10.2 RPGR OPN1LW
10 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
11 cone-rod dystrophy, x-linked, 1 10.2 RPGR OPN1LW
12 cone-rod dystrophy 8 10.1 GNAT2 CNGB3 CNGA3
13 nystagmus 1, congenital, x-linked 10.1
14 retinitis pigmentosa 39 10.0 RPGR GNAT2
15 optic disk drusen 10.0 RPGR RHO
16 retinitis pigmentosa 4 10.0 RPGR RHO
17 retinitis pigmentosa 26 10.0 CNGB3 CNGA3
18 retinitis pigmentosa 19 10.0 RPGR ABCA4
19 solar retinopathy 10.0 RHO ABCA4
20 oligocone trichromacy 10.0 PDE6C GNAT2 CNGB3 CNGA3
21 chorioretinal scar 10.0 RHO ABCA4
22 leber congenital amaurosis 4 10.0 RPE65 PDE6C
23 jalili syndrome 10.0 PDE6C GNAT2 CNGB3 CNGA3
24 peripheral retinal degeneration 10.0 RHO ABCA4
25 retinitis pigmentosa 20 10.0 RPGR RPE65
26 leber congenital amaurosis 10 9.9 RPGR RPE65
27 vitreoretinochoroidopathy 9.9 RPE65 ABCA4
28 congenital nystagmus 9.9 CNGB3 CNGA3
29 bestrophinopathy, autosomal recessive 9.9 RPE65 ABCA4
30 occult macular dystrophy 9.8 RHO CNGB3 ABCA4
31 cycloplegia 9.8 PDE6H PDE6C GNAT2
32 night blindness, congenital stationary, type 2a 9.8 PDE6H GNAT2
33 prolonged electroretinal response suppression 9.8 RHO GNAT2 CNGB3 CNGA3
34 stargardt disease 1 9.8 RHO CNGB3 ABCA4
35 cone dystrophy 3 9.8 RHO PDE6H
36 vitreous disease 9.8 RPE65 RHO
37 bietti crystalline corneoretinal dystrophy 9.7 RPGR RPE65 ABCA4
38 senior-loken syndrome 1 9.7 RPGR RPE65 RHO
39 hereditary retinal dystrophy 9.7 RPE65 RHO ABCA4
40 optic nerve hypoplasia, bilateral 9.7 RPE65 RHO ABCA4
41 degeneration of macula and posterior pole 9.7 RPE65 RHO ABCA4
42 leber congenital amaurosis 1 9.6 RPE65 RHO CNGB3 CNGA3
43 myopia 9.6 TEX28 RPGR RHO OPN1LW CNGB3
44 leber congenital amaurosis 2 9.6 RPGR RPE65 RHO CNGB3
45 leber hereditary optic neuropathy, modifier of 9.6 RPGR RPE65 CNGB3 ABCA4
46 achromatopsia 7 9.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
47 achromatopsia 2 9.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
48 achromatopsia 3 9.5 PDE6H PDE6C GNAT2 CNGB3 CNGA3
49 macular dystrophy, dominant cystoid 9.5 RPGR RPE65 RHO ABCA4
50 gyrate atrophy of choroid and retina 9.5 RPGR RPE65 RHO ABCA4

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



Diseases related to Red-Green Color Blindness

Symptoms & Phenotypes for Red-Green Color Blindness

UMLS symptoms related to Red-Green Color Blindness:


visual disturbance

MGI Mouse Phenotypes related to Red-Green Color Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.32 ABCA4 CNGA3 CNGB3 GNAT2 OPN1LW PDE6C
2 pigmentation MP:0001186 9.26 ABCA4 RHO RPE65 RPGR

Drugs & Therapeutics for Red-Green Color Blindness

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

Genetic Tests for Red-Green Color Blindness

Anatomical Context for Red-Green Color Blindness

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

40
Eye, Retina

Publications for Red-Green Color Blindness

Articles related to Red-Green Color Blindness:

(show all 36)
# Title Authors PMID Year
1
Gold Nanocomposite Contact Lenses for Color Blindness Management. 61
33570901 2021
2
Gene therapy in color vision deficiency: a review. 61
33528822 2021
3
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 61
29770905 2018
4
Prevalence and gene frequency of color vision impairments among children of six populations from North Indian region. 61
30258865 2015
5
The gene therapy revolution in ophthalmology. 61
24227970 2013
6
Seeing science in color. 61
17334402 2007
7
Statistical and molecular analyses of evolutionary significance of red-green color vision and color blindness in vertebrates. 61
15647522 2005
8
Congenital color blindness in young Turkish men. 61
16019694 2005
9
Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. 61
15148406 2004
10
Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family. 61
11910556 2002
11
Visual Pigments and Molecular Genetics of Color Blindness. 61
11390764 1998
12
Frequency of color blindness among Nigerian school children in Lagos. 61
28561397 1998
13
Visual pigment gene structure and the severity of color vision defects. 61
8864125 1996
14
[Molecular genetics of red-green color blindness]. 61
7676516 1995
15
G6PD haplotypes spanning Xq28 from F8C to red/green color vision. 61
8104869 1993
16
Study of color vision in fragile X syndrome. 61
1733167 1992
17
Bicuculline produces reversible red-green color blindness in goldfish, as revealed by monocular behavioral testing. 61
1663295 1991
18
Incidence of red-green color blindness in the Basque population. 61
2378506 1990
19
Becker muscular dystrophy. 61
2509161 1989
20
Recent gene conversion between genes encoding human red and green visual pigments. 61
3078877 1988
21
Frequent alterations of visual pigment genes in adrenoleukodystrophy. 61
2894755 1988
22
Adrenoleukodystrophy: from bedside to molecular biology. 61
3598142 1987
23
Spectral characteristics of electroretinography in congenital red-green color blindness. 61
3498068 1987
24
Spectral characteristics of early receptor potential in congenital red-green color blindness. 61
3488889 1986
25
Molecular genetics of inherited variation in human color vision. 61
3485310 1986
26
[Abnormal spectral characteristics of early receptor potential in congenital red-green color blindness]. 61
3879102 1985
27
[Objective examination of genetic carrier of congenital red-green color blindness by electroretinography]. 61
3875216 1985
28
Color blindness not closely linked to bipolar illness. Report of a new pedigree series. 61
316315 1979
29
X chromosome and color blindness. 61
304200 1977
30
[The phenotype of heterozygotic females in congenital red-green color blindness (author's transl)]. 61
1086400 1976
31
Psychophysical evaluation of toxic effects on sensory systems. 61
238867 1975
32
Criterion validity of four tests for red-green color blindness. 61
4536748 1972
33
Red/green color blindness in the Niger delta. 61
5298588 1967
34
[Rapid method for case-finding of red-green color blindness in school children]. 61
13314368 1956
35
[The Purkinje displacement in red-green color blindness and its diagnostic significance]. 61
13326829 1956
36
Sex-linked nystagmus associated with red-green color-blindness. 61
17948382 1949

Variations for Red-Green Color Blindness

Expression for Red-Green Color Blindness

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

Pathways for Red-Green Color Blindness

GO Terms for Red-Green Color Blindness

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.33 RHO OPN1LW ABCA4
2 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3
3 photoreceptor outer segment membrane GO:0042622 9.13 RHO PDE6H GNAT2
4 photoreceptor outer segment GO:0001750 9.1 RPGR RHO OPN1LW GNAT2 CNGB3 ABCA4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.65 RPGR RPE65 RHO PDE6H PDE6C OPN1LW
2 retinoid metabolic process GO:0001523 9.56 RPE65 RHO OPN1LW ABCA4
3 phototransduction GO:0007602 9.5 RHO OPN1LW GNAT2
4 response to light stimulus GO:0009416 9.49 RPE65 RHO
5 detection of light stimulus involved in visual perception GO:0050908 9.48 RPE65 GNAT2
6 cellular response to light stimulus GO:0071482 9.46 RHO OPN1LW
7 protein-chromophore linkage GO:0018298 9.43 RHO OPN1LW
8 sensory perception of light stimulus GO:0050953 9.4 RHO PDE6C
9 retinal cone cell development GO:0046549 9.37 PDE6C GNAT2
10 phototransduction, visible light GO:0007603 9.33 RHO PDE6C ABCA4
11 visual perception GO:0007601 9.32 RPGR RPE65 RHO PDE6H PDE6C OPN1LW

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.4 PDE6H PDE6C
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6H PDE6C
3 photoreceptor activity GO:0009881 9.32 RHO OPN1LW
4 intracellular cAMP-activated cation channel activity GO:0005222 9.26 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 9.16 CNGB3 CNGA3
6 G protein-coupled photoreceptor activity GO:0008020 9.13 RHO OPN1LW GNAT2
7 cGMP binding GO:0030553 8.92 PDE6H PDE6C CNGB3 CNGA3

Sources for Red-Green Color Blindness

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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