CBD
MCID: CLR132
MIFTS: 30

Colorblindness, Partial, Deutan Series (CBD)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Colorblindness, Partial, Deutan Series

MalaCards integrated aliases for Colorblindness, Partial, Deutan Series:

Name: Colorblindness, Partial, Deutan Series 57 72 70
Deuteranopia 57 72 29 6
Colorblindness, Deutan 57 13
Deutan Colorblindness 57 72
Green Colorblindness 57 72
Cbd 57 72
Dcb 57 72
Colorblindness, Deutan Series, Partial 39
Deutan Colorblindness; Dcb 57
Color Blindness, Red-Green 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
colorblindness, partial, deutan series:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM® 57 303800
MeSH 44 D003117
SNOMED-CT via HPO 68 246674000 77479002
UMLS 70 C0155016 C3887938

Summaries for Colorblindness, Partial, Deutan Series

OMIM® : 57 Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light at approximately 420 nm (blue cones; 613522), 530 nm (green cones; 300821), and 560 nm (red cones; 300822). Comparison by neural circuits of light absorption by the 3 classes of cone photoreceptors allows perception of red, yellow, green, and blue colors individually or in various combinations. Dichromatic color vision is severely defective color vision based on the use of only 2 types of photoreceptors, blue plus green (protanopia; see 303900) or blue plus red (deuteranopia). Anomalous trichromacy is trichromatic color vision based on a blue, green, and an anomalous red-like photoreceptor (protanomaly), or a blue, red, and an anomalous green-like photoreceptor (deuteranomaly). The color vision defect is generally mild but may in certain cases be severe. Common variation in red-green color vision exists among both normal and color-deficient individuals (review by Deeb, 2005). (303800) (Updated 05-Apr-2021)

MalaCards based summary : Colorblindness, Partial, Deutan Series, also known as deuteranopia, is related to red-green color blindness and beryllium disease, and has symptoms including visual disturbance An important gene associated with Colorblindness, Partial, Deutan Series is OPN1MW (Opsin 1, Medium Wave Sensitive). Affiliated tissues include eye and kidney, and related phenotype is deuteranomaly.

UniProtKB/Swiss-Prot : 72 Colorblindness, partial, deutan series: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.

Related Diseases for Colorblindness, Partial, Deutan Series

Diseases related to Colorblindness, Partial, Deutan Series via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 red-green color blindness 11.5
2 beryllium disease 11.4
3 corticobasal degeneration 11.2
4 colorblindness, partial, protan series 11.1
5 bile duct cancer 11.0
6 supranuclear palsy, progressive, 1 11.0
7 choledocholithiasis 11.0
8 bornholm eye disease 10.9
9 chronic beryllium disease 10.9
10 pick disease of brain 10.9
11 berylliosis 10.9
12 common bile duct disease 10.9
13 epilepsy 10.4
14 spasticity 10.3
15 multiple sclerosis 10.3
16 rapidly involuting congenital hemangioma 10.3
17 chronic pain 10.3
18 apraxia 10.2
19 parkinsonism 10.2
20 cholangitis 10.2
21 arteries, anomalies of 10.1
22 lipoprotein quantitative trait locus 10.1
23 alzheimer disease 10.1
24 multiple system atrophy 1 10.1
25 yemenite deaf-blind hypopigmentation syndrome 10.1
26 color blindness 10.1
27 color vision deficiency 10.1
28 gallbladder disease 1 10.0
29 obstructive jaundice 10.0
30 spinal cord injury 10.0
31 peripheral artery disease 10.0
32 breast cancer 10.0
33 anxiety 10.0
34 cholelithiasis 10.0
35 cholecystitis 10.0
36 movement disease 10.0
37 dystonia 10.0
38 allergic encephalomyelitis 10.0
39 tritanopia 9.9
40 schizophrenia 9.9
41 autism 9.9
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
43 myeloma, multiple 9.9
44 ataxia and polyneuropathy, adult-onset 9.9
45 dravet syndrome 9.9
46 cholangiocarcinoma 9.9
47 autism spectrum disorder 9.9
48 aphasia 9.9
49 amnestic disorder 9.9
50 enthesopathy 9.9

Graphical network of the top 20 diseases related to Colorblindness, Partial, Deutan Series:



Diseases related to Colorblindness, Partial, Deutan Series

Symptoms & Phenotypes for Colorblindness, Partial, Deutan Series

Human phenotypes related to Colorblindness, Partial, Deutan Series:

31
# Description HPO Frequency HPO Source Accession
1 deuteranomaly 31 HP:0011520

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
colorblindness, partial, deutan series
green series defect

Clinical features from OMIM®:

303800 (Updated 05-Apr-2021)

UMLS symptoms related to Colorblindness, Partial, Deutan Series:


visual disturbance

Drugs & Therapeutics for Colorblindness, Partial, Deutan Series

Search Clinical Trials , NIH Clinical Center for Colorblindness, Partial, Deutan Series

Genetic Tests for Colorblindness, Partial, Deutan Series

Genetic tests related to Colorblindness, Partial, Deutan Series:

# Genetic test Affiliating Genes
1 Deuteranopia 29 OPN1MW

Anatomical Context for Colorblindness, Partial, Deutan Series

MalaCards organs/tissues related to Colorblindness, Partial, Deutan Series:

40
Eye, Kidney

Publications for Colorblindness, Partial, Deutan Series

Articles related to Colorblindness, Partial, Deutan Series:

(show top 50) (show all 119)
# Title Authors PMID Year
1
An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency. 6 57
12626747 2003
2
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 6 57
12051694 2002
3
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. 6 57
11772996 2002
4
Defective colour vision associated with a missense mutation in the human green visual pigment gene. 57 6
1302020 1992
5
Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. 61 57
2915991 1989
6
The molecular basis of variation in human color vision. 57
15811001 2005
7
Is color vision deficiency an advantage under scotopic conditions? 57
11726645 2001
8
The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments. 57
10571225 1999
9
Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype. 57
10319869 1999
10
Visual pigment gene structure and expression in human retinae. 57
9215665 1997
11
Numbers and ratios of visual pigment genes for normal red-green color vision. 57
7863325 1995
12
The chemistry of John Dalton's color blindness. 57
7863342 1995
13
Sequence divergence of the red and green visual pigments in great apes and humans. 57
8041777 1994
14
Selective expression of human X chromosome-linked green opsin genes. 57
1409688 1992
15
Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency. 57
1642230 1992
16
John Dalton (1766-1844). 57
3294412 1988
17
Inheritance of color vision in a New World monkey (Saimiri sciureus). 57
3470811 1987
18
Molecular biology of visual pigments. 57
3551758 1987
19
Johann Friedrich Horner (1831-1886). 57
3538884 1986
20
The molecular biology of color vision. 57
2937146 1986
21
Molecular genetics of inherited variation in human color vision. 57
3485310 1986
22
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. 57
2937147 1986
23
Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm. 57
6321326 1984
24
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences. 57
6952245 1982
25
Triplo-X constitution of mother explains apparent occurrence of two recombinants in sibship segregating at two closely X-linked loci (G6PD and deutan). 57
309723 1978
26
The retinex theory of color vision. 57
929159 1977
27
Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome. 57
301840 1977
28
Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness. 57
4544175 1974
29
An informative large pedigree with four compound hemizygotes of three combinations of deutan and protan genes. 57
4549004 1973
30
New families, one with two recombinants for estimation of recombination between the deutan and protan loci. 57
4538150 1972
31
The linkage between protan and deutan loci. 57
5314352 1970
32
Heredity of two normal types of colour vision. 57
5655963 1968
33
RECOMBINATION BETWEEN PROTAN AND DEUTAN GENES; DATA ON THEIR RELATIVE POSITONS IN RESPECT OF THE G6PD LOCUS. 57
14243382 1964
34
Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes. 57
13985567 1962
35
Linkage between glucose-6-phosphate dehydrogenase deficiency and colour-blindness. 57
14488077 1962
36
Case Report: Effect of Haploscopic Filter on Contrast Sensitivity Function and Color Vision Tests. 61
33252542 2020
37
Can Protanopia Be Correctly Diagnosed in Clinical Practice? An Evaluation of Diagnosis by Four Screening Tests. 61
33055513 2020
38
Simulating a colour-blind ophthalmologist for diagnosing and staging diabetic retinopathy. 61
33106610 2020
39
Social Perception of Facial Color Appearance for Human Trichromatic Versus Dichromatic Color Vision. 61
30982423 2020
40
Prevalence of congenital colour vision deficiency among Black school children in Durban, South Africa. 61
31182158 2019
41
Study of a retinal layer model to generate a spike waveform for a color deficient and strabismus individual. 61
30055095 2019
42
The prevalence of color vision deficiency in the northeast of Iran. 61
30899851 2019
43
[Hereditary color vision deficiency: Physiology, classification, diagnosis and application to aeronautics]. 61
30704748 2019
44
Prevalence of Color Blindness in Undergraduates of Kathmandu University. 61
31065132 2018
45
Are dogs red-green colour blind? 61
29291080 2017
46
Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin. 61
28487225 2017
47
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X. 61
28358949 2017
48
Do dichromats see colours in this way? Assessing simulation tools without colorimetric measurements. 61
27776613 2016
49
A tunable digital ishihara plate for pre-school aged children. 61
28269531 2016
50
Prevalence and gene frequency of color vision impairments among children of six populations from North Indian region. 61
30258865 2015

Variations for Colorblindness, Partial, Deutan Series

ClinVar genetic disease variations for Colorblindness, Partial, Deutan Series:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPN1MW NM_000513.2(OPN1MW):c.989G>A (p.Arg330Gln) SNV Pathogenic 10509 rs104894916 GRCh37: X:153461425-153461425
GRCh38: X:154195934-154195934
2 OPN1MW NM_000513.2(OPN1MW):c.-112A>C SNV Pathogenic 10510 rs724159983 GRCh37: X:153448055-153448055
GRCh38: X:154182566-154182566
3 OPN1MW NM_000513.2(OPN1MW):c.282C>A (p.Asn94Lys) SNV Pathogenic 10512 rs104894915 GRCh37: X:153453428-153453428
GRCh38: X:154187939-154187939
4 OPN1MW NM_000513.2(OPN1MW):c.607T>C (p.Cys203Arg) SNV Pathogenic 10508 rs104894914 GRCh37: X:153457207-153457207
GRCh38: X:154191716-154191716
5 OPN1MW2 NM_001048181.2(OPN1MW2):c.292G>A (p.Ala98Thr) SNV Uncertain significance 931523 GRCh37: X:153490556-153490556
GRCh38: X:154225087-154225087

UniProtKB/Swiss-Prot genetic disease variations for Colorblindness, Partial, Deutan Series:

72
# Symbol AA change Variation ID SNP ID
1 OPN1MW p.Cys203Arg VAR_004841 rs104894914
2 OPN1MW p.Asn94Lys VAR_064051 rs104894915
3 OPN1MW p.Arg330Gln VAR_064053 rs104894916

Expression for Colorblindness, Partial, Deutan Series

Search GEO for disease gene expression data for Colorblindness, Partial, Deutan Series.

Pathways for Colorblindness, Partial, Deutan Series

GO Terms for Colorblindness, Partial, Deutan Series

Sources for Colorblindness, Partial, Deutan Series

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