Aliases & Classifications for Color Blindness

MalaCards integrated aliases for Color Blindness:

Name: Color Blindness 12 75 55 43 15 72
Colour Vision Deficiency 12
Color Vision Defect 72
Colour Blindness 12
Blindness Color 12
Dyschromatopsia 72
Colorblindness 37

Classifications:



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Disease Ontology 12 DOID:13399
KEGG 37 H00976
ICD9CM 35 368.5
MeSH 44 D003117
NCIt 50 C3891
SNOMED-CT 68 53481002
ICD10 33 H53.5 H53.50
UMLS 72 C0009398 C0242225 C0858618

Summaries for Color Blindness

KEGG : 37
Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deuten types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.

MalaCards based summary : Color Blindness, also known as colour vision deficiency, is related to red-green color blindness and tritanopia, 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 Eplerenone and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and retina, and related phenotypes are nervous system 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.

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.

Wikipedia : 75 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 top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 34.1 OPN1MW OPN1LW CNGB3
2 tritanopia 33.8 OPN1SW CNGB3
3 color vision deficiency 33.6 OPN1MW OPN1LW CNGA3
4 colorblindness, partial, protan series 33.1 OPN1MW OPN1LW CNGB3
5 achromatopsia 2 33.0 CNGB3 CNGA3
6 achromatopsia 3 32.8 GNAT2 CNGB3 CNGA3
7 blue cone monochromacy 32.6 OPN1MW OPN1LW CNGB3 CNGA3
8 achromatopsia 4 32.0 GNAT2 CNGB3 CNGA3
9 achromatopsia 28.7 SLC38A8 PDE6H PDE6C OPN1SW OPN1MW OPN1LW
10 pathologic nystagmus 28.6 SLC38A8 GNAT2 CNGB3 CNGA3
11 cone dystrophy 28.1 PDE6H PDE6C OPN1MW OPN1LW CNGB3
12 acquired color blindness 12.5
13 colorblindness, partial, deutan series 11.7
14 cone dystrophy 4 11.2
15 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
16 achromatopsia 7 11.1
17 yemenite deaf-blind hypopigmentation syndrome 10.9
18 retinitis pigmentosa 44 10.3 CNGB3 CNGA3
19 branchiootic syndrome 1 10.2
20 cone-rod dystrophy, x-linked, 2 10.2 OPN1LW F9
21 retinitis pigmentosa 26 10.0 CNGB3 CNGA3
22 stargardt disease 1 10.0 GNAT2 CNGB3
23 liver cirrhosis 10.0
24 cone-rod dystrophy 8 10.0 GNAT2 CNGB3 CNGA3
25 alcohol dependence 9.9
26 cone-rod dystrophy 9 9.9 GNAT2 CNGB3 CNGA3
27 alzheimer disease 9.9
28 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
29 pulmonary alveolar microlithiasis 9.9
30 intraocular pressure quantitative trait locus 9.9
31 cyanosis, transient neonatal 9.9
32 open-angle glaucoma 9.9
33 acute retrobulbar neuritis 9.9
34 foster-kennedy syndrome 9.9
35 melanoma-associated retinopathy 9.9
36 posttransplant acute limbic encephalitis 9.9
37 hand skill, relative 9.9
38 muscular dystrophy, duchenne type 9.9
39 hemophilia b 9.8
40 night blindness 9.8
41 bladder cancer 9.8
42 midphalangeal hair 9.8
43 otosclerosis 1 9.8
44 leprosy 3 9.8
45 albinism, ocular, type i 9.8
46 ocular albinism 9.8
47 hypogonadotropic hypogonadism 9.8
48 tuberculoid leprosy 9.8
49 lepromatous leprosy 9.8
50 cortical blindness 9.8

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

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 NRL OPN1SW
2 vision/eye MP:0005391 9.23 CNGA3 CNGB3 GNAT2 NRL OPN1LW OPN1SW

Drugs & Therapeutics for Color Blindness

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

(show top 50) (show all 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
2 Antihypertensive Agents Phase 2, Phase 3
3 Diuretics, Potassium Sparing Phase 2, Phase 3
4 Natriuretic Agents Phase 2, Phase 3
5 Hormones Phase 2, Phase 3
6 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
7 diuretics Phase 2, Phase 3
8 Mineralocorticoids Phase 2, Phase 3
9 Hormone Antagonists Phase 2, Phase 3
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
11
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
12
Histamine Approved, Investigational Phase 1 51-45-6 774
13 Anti-Allergic Agents Phase 1
14 Histamine Antagonists Phase 1
15 Histamine H1 Antagonists Phase 1
16 Dermatologic Agents Phase 1
17
Histamine Phosphate Phase 1 51-74-1 65513
18 Antipruritics Phase 1
19 Orange Approved
20
Sodium citrate Approved, Investigational 68-04-2
21
Tranexamic Acid Approved 1197-18-8 5526
22
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
23
carbamide peroxide Approved Early Phase 1 124-43-6
24
Dopamine Approved 51-61-6, 62-31-7 681
25
Aripiprazole Approved, Investigational 129722-12-9 60795
26
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
27
Vitamin C Approved, Nutraceutical 50-81-7 54670067 5785
28
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
29 Caseins
30 Citrate
31 Vitamins
32 Pharmaceutical Solutions
33 Hemostatics
34 Coagulants
35 Antifibrinolytic Agents
36 4-phenylbutyric acid Early Phase 1
37 Protective Agents Early Phase 1
38 Neurotransmitter Agents
39 Tranquilizing Agents
40 Central Nervous System Depressants
41 Serotonin 5-HT2 Receptor Antagonists
42 Serotonin Antagonists
43 Antidepressive Agents
44 Serotonin 5-HT1 Receptor Agonists
45 Serotonin Receptor Agonists
46 Serotonin Agents
47 Dopamine Antagonists
48 Antipsychotic Agents
49 Psychotropic Drugs
50 Dopamine agonists

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-masked, Placebo Controlled Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
2 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
3 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
4 Prevalence and Severity of Colour Vision Deficiency Among Turkish Children Completed NCT04048499
5 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
6 Color Vision Tests in Children: Comparison of Standardized and Computer-assisted Examination Completed NCT02464241
7 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
8 A Randomised, Double-blind, Parallel Groups, Placebo-controlled 6 Week Human Intervention Study Investigating the Effect of a Phospholipid Drink on Cognitive Performance in 6-8 Year Old School Children Completed NCT03705572
9 A Study of the Acute and Chronic Effects of 100% Florida Orange Juice Consumption on Cognitive Performance in 7-10 Year Old UK School Children Completed NCT02725775
10 Predictive Effect of Ganglion Cell Layer on Visual Acuity at 6 Months and on Visual Function at 1 Year After an Episode of Optic Neuritis Completed NCT02864134
11 Intravenous Tranexamic Acid and Intraoperative Visualization During Functional Endoscopic Sinus Surgery: A Double Blind Randomized Controlled Trial Completed NCT01111669 Tranexamic Acid;Normal Saline (placebo)
12 Evning Exposure to Computer Screen Disrupts Sleep, Attention and Biological Rhythms Completed NCT02957383
13 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
14 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Population Genetic Study Recruiting NCT03481764
15 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Not yet recruiting NCT04060238
16 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
17 Examining the Neural Bases of Early Visual and Auditory Processing and Emotion Recognition Deficits in Schizophrenia Using Magnetoencephalography Not yet recruiting NCT02588014
18 The Impact of Concurrent Brain Stimulation and Working Memory Training on Cognitive Performance in Acquired Brain Injury Not yet recruiting NCT04010149
19 Aripiprazole Effects on Reward Processing in Deficit Syndrome Schizophrenia Terminated NCT00209027 Aripiprazole
20 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, Retina, Brain, Liver, Cortex, Bone

Publications for Color Blindness

Articles related to Color Blindness:

(show top 50) (show all 751)
# Title Authors PMID Year
1
Cone Contrast Test for Color Vision Deficiency Screening Among a Cohort of Military Aircrew Applicants. 17
30670115 2019
2
Visual evoked cortical potential elicited by pseudoisochromatic stimulus. 17
30617670 2019
3
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability. 17
30682209 2019
4
Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. 9 38
9132265 1995
5
Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded. 9 38
7726217 1994
6
Linkage disequilibrium between glucose-6-phosphate dehydrogenase deficiency and congenital color blindness in Turkish population. 9 38
1635293 1992
7
Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. 9 38
1973904 1990
8
X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees. 9 38
2322087 1990
9
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature. 38
31330559 2019
10
Blue-yellow dyschromatopsia in toluene-exposed workers. 38
30683999 2019
11
[Efficacy and Safety Profile of Ocriplasmin Treatment - an Update]. 38
28599332 2019
12
Color Vision Deficiency Among Doctors: Can We Make Useful Adaptations to the Color Codes Used in the Clinical Environment? 38
31157739 2019
13
Pattern of ocular morbidities: A cross-sectional study on school-going children in Shillong city. 38
31334191 2019
14
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. 38
30957632 2019
15
Color blindness in the medical workplace: Researchers are debating the role of color in disciplines such as pathology and working toward broader solutions to address color vision deficiencies among medical personnel. 38
30951266 2019
16
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33. 38
30826882 2019
17
Atypical Case of Rosai-Dorfman Disease of the Lacrimal Gland with Adjacent Bone Erosion. 38
30976592 2019
18
Review of the main colour vision clinical assessment tests. 38
30361001 2019
19
Bilateral Syphilitic Optic Neuropathy with Secondary Autoimmune Optic Neuropathy and Poor Visual Outcome. 38
31043959 2019
20
Pigmented contact lenses for managing ocular disorders. 38
30465853 2019
21
Mentoring the mentors of students from diverse backgrounds for research. 38
31070417 2019
22
Prevalence of visual impairment among school children in three primary schools of Sekela Woreda, Amhara regional state, north-west Ethiopia. 38
31205693 2019
23
Transient Dyschromatopsia, Static Form Agnosia, and Prosopagnosia Observed in a Patient with Anti-NMDA Receptor Encephalitis. 38
31061739 2019
24
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant. 38
30419843 2018
25
Prevalence of Color Blindness in Undergraduates of Kathmandu University. 38
31065132 2018
26
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. 38
30477452 2018
27
Neuroretinitis: a review. 38
30148725 2018
28
Age-Related Changes in the Clinical Phenotype of Compressive Optic Neuropathy in Thyroid Eye Disease. 38
30234838 2018
29
Non-arteritic ischemic optic neuropathy and supplemental nitric oxide usage. 38
30014049 2018
30
Longitudinal Cognitive Changes in Young Individuals at Ultrahigh Risk for Psychosis. 38
30046827 2018
31
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 38
29770905 2018
32
Macular toxicity and blind spot enlargement during a treatment by voriconazole: A case report. 38
29623723 2018
33
Contact Lenses for Color Blindness. 38
29696828 2018
34
Genetic Testing in Pediatric Ophthalmology. 38
28971364 2018
35
Negative dysphotopsia and dyschromatopsia: February consultation #1. 38
29587981 2018
36
Neurological and Neurophysiological Findings in Workers with Chronic 2,3,7,8-Tetrachlorodibenzo-p-Dioxin Intoxication 50 Years After Exposure. 38
28862800 2018
37
Color Processing in Zebrafish Retina. 38
30337857 2018
38
Effects of a shade-matching light and background color on reliability in tooth shade selection. 38
29687098 2018
39
Rod Monochromatism (Achromatopsia). 38
30578497 2018
40
Gene Therapy for Color Blindness. 38
29259520 2017
41
Picosecond Laser Treatment for Tattoos and Benign Cutaneous Pigmented Lesions (Secondary publication). 38
29434427 2017
42
Occupational styrene exposure and acquired dyschromatopsia: A systematic review and meta-analysis. 38
28836685 2017
43
Color vision test to differentiate Alzheimer's disease from vascular dementia. 38
28625199 2017
44
Lower face asymmetry as a marker for developmental instability. 38
28398004 2017
45
Color perception differentiates Alzheimer's Disease (AD) from Vascular Dementia (VaD) patients. 38
28325166 2017
46
Co-occurrence of Jalili syndrome and muscular overgrowth. 38
28586144 2017
47
Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin. 38
28487225 2017
48
Effects of selection and mutation on epidemiology of X-linked genetic diseases. 38
28092962 2017
49
Isolated presumed optic nerve gumma, a rare presentation of neurosyphilis. 38
29260044 2017
50
Clinical features of serous retinopathy observed with cobimetinib in patients with BRAF-mutated melanoma treated in the randomized coBRIM study. 38
28646893 2017

Variations for Color Blindness

ClinVar genetic disease variations for Color Blindness:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EYS NM_001142800.2(EYS): c.8519A> G (p.Glu2840Gly) single nucleotide variant Uncertain significance rs1554163965 6:64431408-64431408 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 CNGB3 CNGA3
2 photoreceptor disc membrane GO:0097381 9.13 OPN1SW OPN1MW OPN1LW
3 photoreceptor outer segment GO:0001750 9.02 OPN1SW OPN1MW OPN1LW GNAT2 CNGB3

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 PDE6C OPN1SW OPN1MW OPN1LW GNAT2 CNGB3
2 response to stimulus GO:0050896 9.61 PDE6H PDE6C OPN1SW OPN1MW OPN1LW NRL
3 retinoid metabolic process GO:0001523 9.58 OPN1SW OPN1MW OPN1LW
4 cellular response to light stimulus GO:0071482 9.54 OPN1SW OPN1MW OPN1LW
5 protein-chromophore linkage GO:0018298 9.5 OPN1SW OPN1MW OPN1LW
6 positive regulation of cytokinesis GO:0032467 9.48 OPN1MW OPN1LW
7 retinal cone cell development GO:0046549 9.46 PDE6C GNAT2
8 phototransduction GO:0007602 9.46 OPN1SW OPN1MW OPN1LW GNAT2
9 detection of visible light GO:0009584 9.43 OPN1SW OPN1MW OPN1LW
10 visual perception GO:0007601 9.28 PDE6H PDE6C OPN1SW OPN1MW OPN1LW NRL

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 PDE6H PDE6C
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.37 PDE6H PDE6C
3 photoreceptor activity GO:0009881 9.33 OPN1SW OPN1MW OPN1LW
4 intracellular cAMP-activated cation channel activity GO:0005222 9.32 CNGB3 CNGA3
5 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGA3
6 cGMP binding GO:0030553 9.26 PDE6H PDE6C CNGB3 CNGA3
7 G protein-coupled photoreceptor activity GO:0008020 8.92 OPN1SW OPN1MW OPN1LW GNAT2

Sources for Color Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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