Aliases & Classifications for Color Blindness

MalaCards integrated aliases for Color Blindness:

Name: Color Blindness 12 72 51 40 14 69
Dyschromatopsia 69 28
Colour Vision Deficiency 12
Color Vision Defect 69
Colour Blindness 12
Blindness Color 12
Colorblindness 36

Classifications:



External Ids:

Disease Ontology 12 DOID:13399
ICD10 32 H53.5 H53.50
ICD9CM 34 368.5
MeSH 41 D003117
NCIt 46 C3891
KEGG 36 H00976

Summaries for Color Blindness

MedlinePlus : 40 Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities.

MalaCards based summary : Color Blindness, also known as dyschromatopsia, is related to red-green color blindness and color vision deficiency, and has symptoms including visual disturbance, subjective visual disturbance, unspecified and other specified visual disturbances. An important gene associated with Color Blindness is OPN1SW (Opsin 1, Short Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. The drugs Ranibizumab and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.

Wikipedia : 72 Color blindness, also known as color vision deficiency, is the decreased ability to see color or... more...

Related Diseases for Color Blindness

Diseases in the Color Blindness family:

Acquired Color Blindness

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.5 CNGB3 OPN1LW OPN1MW
2 color vision deficiency 33.2 OPN1LW OPN1MW
3 tritanopia 33.1 CNGB3 OPN1SW
4 colorblindness, partial, protan series 32.5 CNGB3 OPN1LW OPN1MW
5 blue cone monochromacy 31.7 CNGA3 CNGB3 OPN1LW OPN1MW
6 achromatopsia 2 31.2 CNGA3 CNGB3 MFRP
7 achromatopsia 29.2 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW
8 acquired color blindness 12.2
9 colorblindness, partial, deutan series 11.1
10 retinitis pigmentosa 10.9
11 hypogonadotropic hypogonadism 1 with or without anosmia 10.8
12 achromatopsia 7 10.8
13 retinitis pigmentosa 44 10.2 CNGA3 CNGB3
14 pathologic nystagmus 10.2 CNGA3 GNAT2
15 retinitis pigmentosa 26 10.1 CNGA3 CNGB3
16 stargardt disease 1 10.1 CNGB3 GNAT2
17 achromatopsia 4 10.0 CNGA3 CNGB3 GNAT2
18 achromatopsia 3 9.9 CNGA3 CNGB3 GNAT2
19 enhanced s-cone syndrome 9.8 CNGA3 MFRP
20 cerebritis 9.7
21 night blindness 9.7
22 oligocone trichromacy 9.6 CNGA3 CNGB3 GNAT2 PDE6C
23 cone-rod dystrophy 6 9.6 CNGA3 CNGB3 GNAT2 PDE6C
24 multiple sclerosis 9.6
25 prostate cancer 9.6
26 hemophilia a 9.6
27 aging 9.6
28 branchiootic syndrome 1 9.6
29 blood group, junior system 9.6
30 amblyopia 9.6
31 prostatitis 9.6
32 hemoglobinopathy 9.6
33 retinitis 9.6
34 refractive error 9.6
35 muscular dystrophy 9.6
36 albinism 9.6
37 hemophilia 9.6
38 ring chromosome y syndrome 9.6
39 myopia 9.4 MFRP OPN1LW OPN1MW
40 cone-rod dystrophy 2 9.4 CNGB3 CNNM4 GNAT2 PDE6C
41 leber congenital amaurosis 9.3 CNGA3 CNGB3 MFRP
42 jalili syndrome 9.2 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
43 fundus dystrophy 9.0 CNGA3 CNGB3 CNNM4 GNAT2 MFRP
44 cone dystrophy 8.6 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H

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



Diseases related to Color Blindness

Symptoms & Phenotypes for Color Blindness

UMLS symptoms related to Color Blindness:


visual disturbance, subjective visual disturbance, unspecified, other specified visual disturbances, photophobia

GenomeRNAi Phenotypes related to Color Blindness according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.44 CNNM4
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.44 OPN1LW OPN1MW CNNM4
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 OPN1MW CNNM4
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.44 OPN1LW
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-184 9.44 CNNM4
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.44 OPN1MW
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.44 OPN1MW
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-62 9.44 OPN1MW
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.44 OPN1LW
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.44 CNNM4

MGI Mouse Phenotypes related to Color Blindness:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 OPN1LW OPN1SW PDE6C PDE6H CNGA3 CNGB3

Drugs & Therapeutics for Color Blindness

Drugs for Color Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2 Angiogenesis Inhibitors Phase 4
3 Angiogenesis Modulating Agents Phase 4
4
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872 150310
5
Spironolactone Approved Phase 2, Phase 3 1952-01-7, 52-01-7 5833
6 diuretics Phase 2, Phase 3
7 Diuretics, Potassium Sparing Phase 2, Phase 3
8 Hormone Antagonists Phase 2, Phase 3
9 Hormones Phase 2, Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
11 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
12 Mineralocorticoids Phase 2, Phase 3
13 Natriuretic Agents Phase 2, Phase 3
14
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
15
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
16 Anti-Allergic Agents Phase 1
17 Antipruritics Phase 1
18 Dermatologic Agents Phase 1
19 Histamine Antagonists Phase 1
20 Histamine H1 Antagonists Phase 1
21
Histamine Phosphate Phase 1 51-74-1 65513
22 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 19)

# Name Status NCT ID Phase Drugs
1 Evaluation of Changes in the Parameters of Optical Coherence Tomography After Intravitreal Injection of Lucentis Unknown status NCT01669447 Phase 4
2 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
3 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
4 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
5 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
6 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
7 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
8 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
9 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
10 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
11 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
12 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
13 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
14 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
15 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536
16 Optic Neuritis and Ganglion Cell Layer Recruiting NCT02864134
17 Evaluation of Different Color Vision Tests in Children Recruiting NCT02464241
18 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
19 Prevalence of Dyschromatopsia in Glaucoma Patients Withdrawn NCT01994564

Search NIH Clinical Center for Color Blindness

Genetic Tests for Color Blindness

Genetic tests related to Color Blindness:

# Genetic test Affiliating Genes
1 Dyschromatopsia 28

Anatomical Context for Color Blindness

MalaCards organs/tissues related to Color Blindness:

38
Testes, Eye, Liver, Retina, Prostate

Publications for Color Blindness

Articles related to Color Blindness:

(show top 50) (show all 191)
# Title Authors Year
1
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. ( 28166717 )
2017
2
a8cGene Therapy for Color Blindness. ( 29259520 )
2017
3
Frequency of color blindness in pre-employment screening in a tertiary health care center in Pakistan. ( 28523050 )
2017
4
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
5
Is adding a new class of cones to the retina sufficient to cure color-blindness? ( 26418498 )
2015
6
A Cure for Color Blindness? Stand by Buck Rogers! ( 26421338 )
2015
7
See no evil: Color blindness and perceptions of subtle racial discrimination in the workplace. ( 25111553 )
2014
8
Why racial color-blindness is myopic. ( 24750092 )
2014
9
Curing Color Blindness-Mice and Nonhuman Primates. ( 25147187 )
2014
10
Perceptions of racial confrontation: the role of color blindness and comment ambiguity. ( 23356360 )
2013
11
Color blindness among multiple sclerosis patients in Isfahan. ( 23267377 )
2012
12
Modern racism attitudes among white students: the role of dominance and authoritarianism and the mediating effects of racial color-blindness. ( 23057194 )
2012
13
Prevalence of refraction errors and color blindness in heavy vehicle drivers. ( 22553671 )
2011
14
More on color blindness. ( 22036741 )
2011
15
Color blindness. ( 21774112 )
2011
16
General principles in motion vision: color blindness of object motion depends on pattern velocity in honeybee and goldfish. ( 21518470 )
2011
17
Color blindness and military fitness for duty: a new look at old standards. ( 20180475 )
2010
18
Color blindness. ( 20885436 )
2010
19
Fuzzy-based simulation of real color blindness. ( 21096518 )
2010
20
Color blindness defect and medical laboratory technologists: unnoticed problems and the care for screening. ( 21137654 )
2010
21
The incidence of color blindness among some school children of Pokhara, Western Nepal. ( 20677611 )
2010
22
Is multiculturalism or color blindness better for minorities? ( 19399972 )
2009
23
Gene therapy for color blindness. ( 20018970 )
2009
24
On the malleability of ideology: motivated construals of color blindness. ( 19309207 )
2009
25
Congenital color blindness in young Turkish men. ( 17464858 )
2007
26
Visual acuity and X-linked color blindness. ( 16133025 )
2006
27
Color blindness and contrast perception in cuttlefish (Sepia officinalis) determined by a visual sensorimotor assay. ( 16376404 )
2006
28
Color blindness and interracial interaction: playing the political correctness game. ( 17176425 )
2006
29
Acquired color blindness in an elderly male patient from recurrent metastatic prostate cancer. ( 16108957 )
2005
30
Statistical and molecular analyses of evolutionary significance of red-green color vision and color blindness in vertebrates. ( 15647522 )
2005
31
White privilege, color blindness, and services to battered women. ( 16043539 )
2005
32
Congenital color blindness in young Turkish men. ( 16019694 )
2005
33
More on color blindness. ( 15789477 )
2005
34
Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. ( 15148406 )
2004
35
Impact of color blindness on recognition of blood in body fluids. ( 11176773 )
2001
36
Color blindness and health care personnel. ( 11575992 )
2001
37
Hypnotic color blindness and performance on the Stroop test. ( 11596828 )
2001
38
Color-blindness in Calabria (Southern Italy): A north-south decreasing trend. ( 11534000 )
2000
39
Re: Eagle Jr RC. Laser pointers and color blindness. Ophthalmology 1998; 105:760. ( 10076101 )
1999
40
Red laser pointers and color blindness. ( 10076196 )
1999
41
Visual Pigments and Molecular Genetics of Color Blindness. ( 11390764 )
1998
42
Laser pointers and color blindness. ( 9593368 )
1998
43
Cortical color blindness is not "blindsight for color". ( 9787052 )
1998
44
Laser pointers and color blindness. ( 9787345 )
1998
45
Complete sparing of high-contrast color input to motion perception in cortical color blindness. ( 10195150 )
1998
46
The chemistry of John Dalton's color blindness. ( 7863342 )
1995
47
A two-and-a-half color rainbow. Color blindness in physicians. ( 7980102 )
1994
48
Image segmentation of a color-blindness plate. ( 20941227 )
1994
49
Linkage of a normal personality trait to the color-blindness gene: preliminary evidence. ( 8274590 )
1993
50
Linkage disequilibrium between glucose-6-phosphate dehydrogenase deficiency and congenital color blindness in Turkish population. ( 1635293 )
1992

Variations for Color Blindness

Copy number variations for Color Blindness from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 219466 7 127100000 129200000 Gain or loss OPN1SW Colorblindness

Expression for Color Blindness

Search GEO for disease gene expression data for Color Blindness.

Pathways for Color Blindness

GO Terms for Color Blindness

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment membrane GO:0042622 9.26 CNGA3 GNAT2
2 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
3 photoreceptor disc membrane GO:0097381 9.13 OPN1LW OPN1MW OPN1SW
4 photoreceptor outer segment GO:0001750 9.02 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.98 CNGA3 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW
2 response to stimulus GO:0050896 9.61 CNGA3 CNGB3 CNNM4 GNAT2 OPN1LW OPN1MW
3 retinoid metabolic process GO:0001523 9.54 OPN1LW OPN1MW OPN1SW
4 protein-chromophore linkage GO:0018298 9.5 OPN1LW OPN1MW OPN1SW
5 positive regulation of cytokinesis GO:0032467 9.46 OPN1LW OPN1MW
6 phototransduction GO:0007602 9.46 GNAT2 OPN1LW OPN1MW OPN1SW
7 detection of visible light GO:0009584 9.43 OPN1LW OPN1MW OPN1SW
8 retinal cone cell development GO:0046549 9.4 GNAT2 PDE6C
9 visual perception GO:0007601 9.32 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW

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

# Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.71 GNAT2 OPN1LW OPN1MW OPN1SW
2 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE6C PDE6H
3 photoreceptor activity GO:0009881 9.33 OPN1LW OPN1MW OPN1SW
4 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.32 PDE6C PDE6H
5 intracellular cGMP activated cation channel activity GO:0005223 9.26 CNGA3 CNGB3
6 cGMP binding GO:0030553 9.26 CNGA3 CNGB3 PDE6C PDE6H
7 G-protein coupled photoreceptor activity GO:0008020 8.92 GNAT2 OPN1LW OPN1MW OPN1SW

Sources for Color Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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