Aliases & Classifications for Color Blindness

MalaCards integrated aliases for Color Blindness:

Name: Color Blindness 12 76 55 43 15 73
Colour Vision Deficiency 12
Color Vision Defect 73
Colour Blindness 12
Blindness Color 12
Dyschromatopsia 73
Colorblindness 37

Classifications:



External Ids:

Disease Ontology 12 DOID:13399
ICD10 33 H53.5 H53.50
ICD9CM 35 368.5
MeSH 44 D003117
NCIt 50 C3891
SNOMED-CT 68 53481002
KEGG 37 H00976

Summaries for Color Blindness

MedlinePlus : 43 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 colour vision deficiency, is related to red-green color blindness and color vision deficiency, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. 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 Visual Cycle in Retinal Rods. The drugs Ranibizumab and Dexlansoprazole have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and liver, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased 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 : 76 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 42)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 33.7 CNGB3 OPN1LW OPN1MW
2 color vision deficiency 33.2 CNGA3 OPN1LW OPN1MW
3 tritanopia 33.2 CNGB3 OPN1SW
4 colorblindness, partial, protan series 32.7 CNGB3 OPN1LW OPN1MW
5 achromatopsia 3 32.6 CNGA3 CNGB3 GNAT2
6 blue cone monochromacy 32.0 CNGA3 CNGB3 OPN1LW OPN1MW
7 achromatopsia 4 31.8 CNGA3 CNGB3 GNAT2
8 achromatopsia 2 31.6 CNGA3 CNGB3 MFRP
9 achromatopsia 31.3 CNGA3 CNGB3 GNAT2 MFRP OPN1LW OPN1MW
10 cone dystrophy 29.1 CNGB3 OPN1LW OPN1MW PDE6C PDE6H
11 acquired color blindness 12.4
12 colorblindness, partial, deutan series 11.2
13 cone dystrophy 4 11.0
14 hypogonadotropic hypogonadism 1 with or without anosmia 10.9
15 achromatopsia 7 10.9
16 retinitis pigmentosa 44 10.1 CNGA3 CNGB3
17 cone-rod dystrophy, x-linked, 2 10.1 F9 OPN1LW
18 retinitis pigmentosa 26 10.0 CNGA3 CNGB3
19 stargardt disease 1 10.0 CNGB3 GNAT2
20 cone-rod dystrophy 8 10.0 CNGA3 CNGB3 GNAT2
21 cone-rod dystrophy 9 10.0 CNGA3 CNGB3 GNAT2
22 open-angle glaucoma 9.9
23 stargardt disease 9.8 CNGB3 GNAT2 PDE6H
24 night blindness 9.8
25 oligocone trichromacy 9.8 CNGA3 CNGB3 GNAT2 PDE6C
26 jalili syndrome 9.8 CNGA3 CNGB3 GNAT2 PDE6C
27 pathologic nystagmus 9.8 CNGA3 CNGB3 GNAT2 SLC38A8
28 ocular albinism 9.8
29 hypogonadotropic hypogonadism 9.8
30 glucosephosphate dehydrogenase deficiency 9.8
31 depression 9.8
32 multiple sclerosis 9.7
33 prostate cancer 9.7
34 yemenite deaf-blind hypopigmentation syndrome 9.7
35 amblyopia 9.7
36 hemoglobinopathy 9.7
37 muscular dystrophy 9.7
38 albinism 9.7
39 myopia 9.6 MFRP OPN1LW OPN1MW
40 leber congenital amaurosis 9.6 CNGA3 CNGB3 MFRP SLC38A8
41 cone-rod dystrophy 6 9.6 CNGA3 CNGB3 GNAT2 PDE6C PDE6H
42 fundus dystrophy 9.3 CNGA3 CNGB3 GNAT2 MFRP 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:


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

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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.44 F9
2 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.44 F9
3 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.44 MFRP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.44 F9
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.44 MFRP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.44 F9
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.44 MFRP
8 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.44 F9
9 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.44 F9
10 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.44 F9 MFRP
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 F9
12 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.44 F9

MGI Mouse Phenotypes related to Color Blindness:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 CNGA3 CNGB3 G6PD GNAT2 MFRP OPN1SW
2 vision/eye MP:0005391 9.23 CNGA3 CNGB3 GNAT2 MFRP OPN1LW OPN1SW

Drugs & Therapeutics for Color Blindness

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

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4 347396-82-1 459903
2
Dexlansoprazole Approved, Investigational Phase 4 103577-45-3, 138530-94-6 9578005
3
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
4 Immunologic Factors Phase 4
5 Angiogenesis Modulating Agents Phase 4
6 Angiogenesis Inhibitors Phase 4
7 Anti-Ulcer Agents Phase 4
8 Gastrointestinal Agents Phase 4
9 Antacids Phase 4
10 Proton Pump Inhibitors Phase 4
11
Eplerenone Approved Phase 2, Phase 3 107724-20-9 443872 150310
12
Spironolactone Approved Phase 2, Phase 3 52-01-7, 1952-01-7 5833
13 Diuretics, Potassium Sparing Phase 2, Phase 3
14 Hormone Antagonists Phase 2, Phase 3
15 diuretics Phase 2, Phase 3
16 Mineralocorticoids Phase 2, Phase 3
17 Hormones Phase 2, Phase 3
18 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
19 Natriuretic Agents Phase 2, Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
21
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
22
Histamine Approved, Investigational Phase 1 51-45-6, 75614-87-8 774
23
Histamine Phosphate Phase 1 51-74-1 65513
24 Dermatologic Agents Phase 1
25 Neurotransmitter Agents Phase 1
26 Antipruritics Phase 1
27 Histamine H1 Antagonists Phase 1
28 Histamine Antagonists Phase 1
29 Anti-Allergic Agents Phase 1

Interventional clinical trials:

(show all 24)
# 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 Safety and Efficacy of Lansoprazole in Patients With Reflux Disease Completed NCT01135368 Phase 4 Lansoprazole
3 A Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
4 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
5 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
6 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
7 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
8 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
9 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
10 Gene Therapy for Achromatopsia (CNGA3) Not yet recruiting NCT03758404 Phase 1, Phase 2
11 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
12 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
13 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
14 Evaluation of Different Color Vision Tests in Children Completed NCT02464241
15 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
16 A Retrospective Chart Review of Patients Treated With Ocriplasmin for Symptomatic VMA Completed NCT02193945
17 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
18 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
19 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536
20 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Recruiting NCT03481764
21 Exploring Computerised Cognitive Training for People With Huntington's Disease Recruiting NCT02990676 Not Applicable
22 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
23 Optic Neuritis and Ganglion Cell Layer Active, not recruiting NCT02864134
24 Prevalence of Dyschromatopsia in Glaucoma Patients Withdrawn NCT01994564

Search NIH Clinical Center for Color Blindness

Genetic Tests for Color Blindness

Anatomical Context for Color Blindness

MalaCards organs/tissues related to Color Blindness:

41
Testes, Eye, Liver, Retina, Prostate

Publications for Color Blindness

Articles related to Color Blindness:

(show top 50) (show all 231)
# Title Authors Year
1
Contact Lenses for Color Blindness. ( 29696828 )
2018
2
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. ( 30477452 )
2018
3
Should Colour Vision Deficiency Be a Recognized Special Education Need (SEN)? ( 30371448 )
2018
4
a8cGene Therapy for Color Blindness. ( 29259520 )
2017
5
Frequency of color blindness in pre-employment screening in a tertiary health care center in Pakistan. ( 28523050 )
2017
6
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. ( 28166717 )
2017
7
Preparing medical students with congenital colour vision deficiency for safe practice. ( 28731005 )
2017
8
Psychophysical Evaluation of Congenital Colour Vision Deficiency: Discrimination between Protans and Deutans Using Mollon-Reffin's Ellipses and the Farnsworth-Munsell 100-Hue Test. ( 27101124 )
2016
9
Prevalence of congenital colour vision deficiency among secondary school students in Ibadan, South-West Nigeria. ( 27424620 )
2016
10
Simulating Colour Vision Deficiency from a Spectral Image. ( 27534332 )
2016
11
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
12
A Cure for Color Blindness? Stand by Buck Rogers! ( 26421338 )
2015
13
Is adding a new class of cones to the retina sufficient to cure color-blindness? ( 26418498 )
2015
14
Re.: Is screening for congenital colour vision deficiency in school students worthwhile? A review. ( 25612220 )
2015
15
Re.: Is screening for congenital colour vision deficiency in school students worthwhile? ( 25727943 )
2015
16
Why racial color-blindness is myopic. ( 24750092 )
2014
17
See no evil: Color blindness and perceptions of subtle racial discrimination in the workplace. ( 25111553 )
2014
18
Curing Color Blindness-Mice and Nonhuman Primates. ( 25147187 )
2014
19
Is screening for congenital colour vision deficiency in school students worthwhile? A review. ( 25039829 )
2014
20
Perceptions of racial confrontation: the role of color blindness and comment ambiguity. ( 23356360 )
2013
21
Color blindness among multiple sclerosis patients in Isfahan. ( 23267377 )
2012
22
Modern racism attitudes among white students: the role of dominance and authoritarianism and the mediating effects of racial color-blindness. ( 23057194 )
2012
23
Prevalence of refraction errors and color blindness in heavy vehicle drivers. ( 22553671 )
2011
24
Color blindness. ( 21774112 )
2011
25
More on color blindness. ( 22036741 )
2011
26
General principles in motion vision: color blindness of object motion depends on pattern velocity in honeybee and goldfish. ( 21518470 )
2011
27
Color blindness. ( 20885436 )
2010
28
Color blindness defect and medical laboratory technologists: unnoticed problems and the care for screening. ( 21137654 )
2010
29
Color blindness and military fitness for duty: a new look at old standards. ( 20180475 )
2010
30
Fuzzy-based simulation of real color blindness. ( 21096518 )
2010
31
The incidence of color blindness among some school children of Pokhara, Western Nepal. ( 20677611 )
2010
32
Advice for medical students and practitioners with colour vision deficiency: a website resource. ( 19863590 )
2010
33
Colour vision deficiency. ( 19927164 )
2010
34
Visual contents adaptation for colour vision deficiency using customised ICC profile. ( 20528103 )
2010
35
Chromatic VEP in children with congenital colour vision deficiency. ( 20883356 )
2010
36
On the malleability of ideology: motivated construals of color blindness. ( 19309207 )
2009
37
Is multiculturalism or color blindness better for minorities? ( 19399972 )
2009
38
Gene therapy for color blindness. ( 20018970 )
2009
39
Congenital color blindness in young Turkish men. ( 17464858 )
2007
40
Visual acuity and X-linked color blindness. ( 16133025 )
2006
41
Color blindness and contrast perception in cuttlefish (Sepia officinalis) determined by a visual sensorimotor assay. ( 16376404 )
2006
42
Color blindness and interracial interaction: playing the political correctness game. ( 17176425 )
2006
43
Prevalence Of Colour Vision Deficiency Among Medical Students And Health Personnel. ( 27570586 )
2006
44
Acquired color blindness in an elderly male patient from recurrent metastatic prostate cancer. ( 16108957 )
2005
45
Congenital color blindness in young Turkish men. ( 16019694 )
2005
46
More on color blindness. ( 15789477 )
2005
47
Statistical and molecular analyses of evolutionary significance of red-green color vision and color blindness in vertebrates. ( 15647522 )
2005
48
White privilege, color blindness, and services to battered women. ( 16043539 )
2005
49
Impact of congenital colour vision deficiency: poor colour vision does not have to be a hindrance. ( 15637385 )
2005
50
Impact of congenital colour vision deficiency: screening could help choice of medical career. ( 15637386 )
2005

Variations for Color Blindness

ClinVar genetic disease variations for Color Blindness:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 64431408: 64431408
2 EYS NM_001142800.1(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 63721512: 63721512

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 transmembrane transporter complex GO:1902495 9.16 CNGA3 CNGB3
2 photoreceptor disc membrane GO:0097381 9.13 OPN1LW OPN1MW OPN1SW
3 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 retinoid metabolic process GO:0001523 9.58 OPN1LW OPN1MW OPN1SW
3 response to stimulus GO:0050896 9.56 CNGA3 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW
4 cellular response to light stimulus GO:0071482 9.54 OPN1LW OPN1MW OPN1SW
5 protein-chromophore linkage GO:0018298 9.5 OPN1LW OPN1MW OPN1SW
6 positive regulation of cytokinesis GO:0032467 9.48 OPN1LW OPN1MW
7 retinal cone cell development GO:0046549 9.46 GNAT2 PDE6C
8 phototransduction GO:0007602 9.46 GNAT2 OPN1LW OPN1MW OPN1SW
9 detection of visible light GO:0009584 9.43 OPN1LW OPN1MW OPN1SW
10 visual perception GO:0007601 9.28 CNGA3 CNGB3 GNAT2 MFRP OPN1LW OPN1MW

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

# Name GO ID Score Top Affiliating Genes
1 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.4 PDE6C PDE6H
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE6C PDE6H
3 photoreceptor activity GO:0009881 9.33 OPN1LW OPN1MW OPN1SW
4 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGA3 CNGB3
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
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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