Aliases & Classifications for Color Blindness

MalaCards integrated aliases for Color Blindness:

Name: Color Blindness 12 52 41 14 69
Colour Vision Deficiency 12
Color Vision Defect 69
Colour Blindness 12
Blindness Color 12

Classifications:



External Ids:

Disease Ontology 12 DOID:13399
ICD10 33 H53.5 H53.50
ICD9CM 35 368.5
MeSH 42 D003117
NCIt 47 C3891
UMLS 69 C0242225

Summaries for Color Blindness

MedlinePlus : 41 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 blue color blindness and red-green color blindness, and has symptoms including photophobia, visual disturbance 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 vision/eye

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 46)
id Related Disease Score Top Affiliating Genes
1 blue color blindness 12.2
2 red-green color blindness 12.2
3 red color blindness 12.2
4 acquired color blindness 12.1
5 achromatopsia 11.7
6 color vision deficiency 11.6
7 colorblindness, tritan 11.5
8 blue cone monochromacy 11.1
9 red-green color vision defects 11.0
10 achromatopsia 7 10.7
11 hypogonadotropic hypogonadism 1 with or without anosmia 10.7
12 renal tubular dysgenesis, agtr1-related 10.5 OPN1LW OPN1MW
13 core binding factor acute myeloid leukemia 10.4 OPN1LW OPN1MW
14 urofacial syndrome 1 10.4 CNGA3 CNGB3
15 hypopigmentation of eyelid 10.3 CNGB3 OPN1SW
16 aphthous stomatitis 10.2 CNGA3 GNAT2
17 somatization disorder 10.1 CNGB3 OPN1LW OPN1MW
18 lumbosacral plexus lesion 10.1 CNGB3 OPN1LW OPN1MW
19 achromatopsia 4 10.0 CNGA3 CNGB3 GNAT2
20 stargardt disease 1 10.0 CNGB3 GNAT2
21 optic atrophy 6 9.9 CNGA3 CNGB3 GNAT2
22 dystonia 16 9.9 CNGA3 CNGB3
23 waisman syndrome 9.9 CNGA3 CNGB3 OPN1LW OPN1MW
24 cerebritis 9.7
25 night blindness 9.7
26 achromatopsia 2 9.7 CNGA3 CNGB3 MFRP
27 retinitis pigmentosa 37 9.6 CNGA3 MFRP
28 6q terminal deletion syndrome 9.5 CNGA3 CNGB3 GNAT2 PDE6C
29 orofaciodigital syndrome xv 9.5 CNGA3 CNGB3 GNAT2 PDE6C
30 hemophilia a 9.5
31 hemophilia 9.5
32 progressive muscular dystrophy 9.5
33 amblyopia 9.5
34 prostatitis 9.5
35 hemoglobinopathy 9.5
36 retinitis 9.5
37 prostate cancer 9.5
38 refractive error 9.5
39 muscular dystrophy 9.5
40 albinism 9.5
41 limbal stem cell deficiency 9.4 CNGA3 CNGB3 MFRP
42 impetigo 9.2 CNGA3 CNGB3 GNAT2 MFRP
43 jalili syndrome 9.0 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
44 androgenic alopecia 8.2 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H
45 acute biphenotypic leukemia 6.7 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW
46 angioid streaks 5.9 CNGA3 CNGB3 CNNM4 F9 G6PD GNAT2

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

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

26
id 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 CNNM4 OPN1LW OPN1MW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.44 CNNM4 OPN1MW
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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 CNGB3 CNNM4 GNAT2 MFRP OPN1LW OPN1SW

Drugs & Therapeutics for Color Blindness

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

(show all 27)
id 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 150310 443872
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 Phase 1 15686-51-8 26987
15
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
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
23
Levodopa Approved 59-92-7 6047
24 Dihydroxyphenylalanine
25 Autonomic Agents
26 Mydriatics
27 Peripheral Nervous System Agents

Interventional clinical trials:

(show all 24)

id 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 Do Blue-Blocking Lenses Block Blue Colour From Our Lives? Unknown status NCT00403143
11 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
12 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
13 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
14 Ì-SPIES, Comparison of Cystoscopy Images in Four Different SPIES Modalities Completed NCT02174302
15 Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families. Completed NCT02970266
16 Colour Contrast Sensitivity for the Early Detection of Wet Age-related Macular Degereration (CEDAR) Completed NCT02173496
17 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Recruiting NCT01927536
18 Optic Neuritis and Ganglion Cell Layer Recruiting NCT02864134
19 Evaluation of Different Color Vision Tests in Children Recruiting NCT02464241
20 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
21 Evaluation of the Protective Role of the L-DOPA Against Age Related Macular Degeneration in Parkinson's Patients Recruiting NCT02863640
22 Assessment of EyeArt as an Automated Diabetic Retinopathy Screening Tool Enrolling by invitation NCT03112005 Mydriatic Agent
23 Pilot Assessment of EyeArt as an Automated Diabetic Retinopathy Screening Tool Enrolling by invitation NCT03078231 Mydriatic Agent
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:

39
Testes, Eye, Liver, Retina, Prostate

Publications for Color Blindness

Articles related to Color Blindness:

(show top 50) (show all 190)
id Title Authors Year
1
Frequency of color blindness in pre-employment screening in a tertiary health care center in Pakistan. ( 28523050 )
2017
2
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. ( 28166717 )
2017
3
A review of color blindness for microscopists: guidelines and tools for accommodating and coping with color vision deficiency. ( 25739321 )
2015
4
A Cure for Color Blindness? Stand by Buck Rogers! ( 26421338 )
2015
5
Is adding a new class of cones to the retina sufficient to cure color-blindness? ( 26418498 )
2015
6
See no evil: Color blindness and perceptions of subtle racial discrimination in the workplace. ( 25111553 )
2014
7
Curing Color Blindness-Mice and Nonhuman Primates. ( 25147187 )
2014
8
Why racial color-blindness is myopic. ( 24750092 )
2014
9
Perceptions of racial confrontation: the role of color blindness and comment ambiguity. ( 23356360 )
2013
10
Color blindness among multiple sclerosis patients in Isfahan. ( 23267377 )
2012
11
Modern racism attitudes among white students: the role of dominance and authoritarianism and the mediating effects of racial color-blindness. ( 23057194 )
2012
12
Prevalence of refraction errors and color blindness in heavy vehicle drivers. ( 22553671 )
2011
13
General principles in motion vision: color blindness of object motion depends on pattern velocity in honeybee and goldfish. ( 21518470 )
2011
14
Color blindness. ( 21774112 )
2011
15
More on color blindness. ( 22036741 )
2011
16
Color blindness. ( 20885436 )
2010
17
Fuzzy-based simulation of real color blindness. ( 21096518 )
2010
18
Color blindness defect and medical laboratory technologists: unnoticed problems and the care for screening. ( 21137654 )
2010
19
Color blindness and military fitness for duty: a new look at old standards. ( 20180475 )
2010
20
The incidence of color blindness among some school children of Pokhara, Western Nepal. ( 20677611 )
2010
21
On the malleability of ideology: motivated construals of color blindness. ( 19309207 )
2009
22
Is multiculturalism or color blindness better for minorities? ( 19399972 )
2009
23
Gene therapy for color blindness. ( 20018970 )
2009
24
Congenital color blindness in young Turkish men. ( 17464858 )
2007
25
Color blindness and contrast perception in cuttlefish (Sepia officinalis) determined by a visual sensorimotor assay. ( 16376404 )
2006
26
Visual acuity and X-linked color blindness. ( 16133025 )
2006
27
Color blindness and interracial interaction: playing the political correctness game. ( 17176425 )
2006
28
Statistical and molecular analyses of evolutionary significance of red-green color vision and color blindness in vertebrates. ( 15647522 )
2005
29
More on color blindness. ( 15789477 )
2005
30
Acquired color blindness in an elderly male patient from recurrent metastatic prostate cancer. ( 16108957 )
2005
31
White privilege, color blindness, and services to battered women. ( 16043539 )
2005
32
Congenital color blindness in young Turkish men. ( 16019694 )
2005
33
Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. ( 15148406 )
2004
34
Hypnotic color blindness and performance on the Stroop test. ( 11596828 )
2001
35
Color blindness and health care personnel. ( 11575992 )
2001
36
Impact of color blindness on recognition of blood in body fluids. ( 11176773 )
2001
37
Color-blindness in Calabria (Southern Italy): A north-south decreasing trend. ( 11534000 )
2000
38
Re: Eagle Jr RC. Laser pointers and color blindness. Ophthalmology 1998; 105:760. ( 10076101 )
1999
39
Red laser pointers and color blindness. ( 10076196 )
1999
40
Visual Pigments and Molecular Genetics of Color Blindness. ( 11390764 )
1998
41
Laser pointers and color blindness. ( 9593368 )
1998
42
Laser pointers and color blindness. ( 9787345 )
1998
43
Complete sparing of high-contrast color input to motion perception in cortical color blindness. ( 10195150 )
1998
44
Cortical color blindness is not "blindsight for color". ( 9787052 )
1998
45
The chemistry of John Dalton's color blindness. ( 7863342 )
1995
46
A two-and-a-half color rainbow. Color blindness in physicians. ( 7980102 )
1994
47
Image segmentation of a color-blindness plate. ( 20941227 )
1994
48
Linkage of a normal personality trait to the color-blindness gene: preliminary evidence. ( 8274590 )
1993
49
Linkage disequilibrium between glucose-6-phosphate dehydrogenase deficiency and congenital color blindness in Turkish population. ( 1635293 )
1992
50
Ethambutol-induced color-blindness in goldfish: a behavioral, electrophysiological and morphological study. ( 1798615 )
1991

Variations for Color Blindness

Copy number variations for Color Blindness from CNVD:

7
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.95 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 9.5 OPN1LW OPN1MW OPN1SW
4 phototransduction GO:0007602 9.46 GNAT2 OPN1LW OPN1MW OPN1SW
5 positive regulation of cytokinesis GO:0032467 9.43 OPN1LW OPN1MW
6 protein-chromophore linkage GO:0018298 9.43 OPN1LW OPN1MW OPN1SW
7 retinal cone cell development GO:0046549 9.37 GNAT2 PDE6C
8 visual perception GO:0007601 9.32 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW

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

id 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 8.32 GNAT2

Sources for Color Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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