CBD
MCID: CLR132
MIFTS: 27

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 58 76 74
Deuteranopia 58 76 30 6
Colorblindness, Deutan 58 13
Deutan Colorblindness 58 76
Green Colorblindness 58 76
Cbd 58 76
Dcb 58 76
Colorblindness, Deutan Series, Partial 41
Deutan Colorblindness; Dcb 58
Color Blindness, Red-Green 74

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

33
colorblindness, partial, deutan series:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 58 303800
MeSH 45 D003117
SNOMED-CT via HPO 70 246674000 77479002

Summaries for Colorblindness, Partial, Deutan Series

OMIM : 58 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)

MalaCards based summary : Colorblindness, Partial, Deutan Series, also known as deuteranopia, is related to beryllium disease and red-green color blindness, 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, brain and spinal cord, and related phenotype is deuteranomaly.

UniProtKB/Swiss-Prot : 76 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

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:

33
# Description HPO Frequency HPO Source Accession
1 deuteranomaly 33 HP:0011520

Symptoms via clinical synopsis from OMIM:

58
Eyes:
colorblindness, partial, deutan series
green series defect

Clinical features from OMIM:

303800

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 30 OPN1MW

Anatomical Context for Colorblindness, Partial, Deutan Series

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

42
Eye, Brain, Spinal Cord

Publications for Colorblindness, Partial, Deutan Series

Articles related to Colorblindness, Partial, Deutan Series:

# Title Authors Year
1
Protanomaly without darkened red is deuteranopia with rods. ( 18423511 )
2008
2
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. ( 12626747 )
2003
3
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. ( 12051694 )
2002
4
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. ( 11772996 )
2002
5
Defective colour vision associated with a missense mutation in the human green visual pigment gene. ( 1302020 )
1992
6
A collaborative study of genetic linkage of bipolar manic-depressive illness and red/green colorblindness. A project of the biological psychiatry collaborative program of the world health organization. ( 6969532 )
1980
7
A unilateral defect resembling deuteranopia. ( 4548125 )
1974
8
Components of the human electroretinogram; the photopic electroretinogram in normal eyes, in deuteranopia and in deuteranomaly. ( 13605820 )
1958
9
Deuteranopia and the sensitivity of the red receptor. ( 15395054 )
1949
10
A case of unilateral deuteranopia. ( 18866818 )
1948

Variations for Colorblindness, Partial, Deutan Series

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPN1MW NM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs104894914 GRCh37 Chromosome X, 153457207: 153457207
2 OPN1MW NM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg) single nucleotide variant Pathogenic rs104894914 GRCh38 Chromosome X, 154191716: 154191716
3 OPN1MW NM_000513.2(OPN1MW): c.989G> A (p.Arg330Gln) single nucleotide variant Pathogenic rs104894916 GRCh37 Chromosome X, 153461425: 153461425
4 OPN1MW NM_000513.2(OPN1MW): c.989G> A (p.Arg330Gln) single nucleotide variant Pathogenic rs104894916 GRCh38 Chromosome X, 154195934: 154195934
5 OPN1MW NM_000513.2(OPN1MW): c.-112A> C single nucleotide variant Pathogenic rs724159983 GRCh38 Chromosome X, 154182566: 154182566
6 OPN1MW NM_000513.2(OPN1MW): c.-112A> C single nucleotide variant Pathogenic rs724159983 GRCh37 Chromosome X, 153448055: 153448055
7 OPN1MW NM_000513.2(OPN1MW): c.282C> A (p.Asn94Lys) single nucleotide variant Pathogenic rs104894915 GRCh37 Chromosome X, 153453428: 153453428
8 OPN1MW NM_000513.2(OPN1MW): c.282C> A (p.Asn94Lys) single nucleotide variant Pathogenic rs104894915 GRCh38 Chromosome X, 154187939: 154187939

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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