CBP
MCID: CLR133
MIFTS: 36

Colorblindness, Partial, Protan Series (CBP)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Colorblindness, Partial, Protan Series

MalaCards integrated aliases for Colorblindness, Partial, Protan Series:

Name: Colorblindness, Partial, Protan Series 57 72 39
Red Color Blindness 12 15 17
Protan Defect 12 29 6
Protanopia 57 12 72
Colorblindness, Protan 57 13
Red Colorblindness 57 72
Cbp 57 72
Color Blindness, Red 70

Characteristics:

OMIM®:

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:13910
OMIM® 57 303900
ICD9CM 34 368.51
MeSH 44 D003117
SNOMED-CT 67 51445007
UMLS 70 C0155015

Summaries for Colorblindness, Partial, Protan 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) or blue plus red (deuteranopia; see 303800). 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). (303900) (Updated 05-Apr-2021)

MalaCards based summary : Colorblindness, Partial, Protan Series, also known as red color blindness, is related to color vision deficiency and tritanopia, and has symptoms including visual disturbance An important gene associated with Colorblindness, Partial, Protan Series is OPN1LW (Opsin 1, Long Wave Sensitive), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Phototransduction. Affiliated tissues include retina, and related phenotype is protanomaly.

UniProtKB/Swiss-Prot : 72 Colorblindness, partial, protan series: A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end 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, Protan Series

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

(show top 50) (show all 318)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 30.4 OPN1LW CNGA3
2 tritanopia 29.2 PDE6C OPN1LW GNAT2 CNGB3 CNGA3
3 myopia 29.0 TEX28 RHO OPN1LW CNGB3
4 eye disease 28.7 RHO GNAT2 CNGB3 CNGA3
5 color blindness 28.7 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3
6 achromatopsia 28.5 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3
7 fundus dystrophy 28.4 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3
8 colorblindness, partial, deutan series 11.1
9 chromosome 16p13.3 deletion syndrome, proximal 10.5
10 otopalatodigital syndrome, type i 10.4
11 leukemia, acute myeloid 10.4
12 t-cell lymphoblastic leukemia/lymphoma 10.4
13 leukemia, t-cell, chronic 10.4
14 myeloid leukemia 10.4
15 leukemia 10.3
16 human t-cell leukemia virus type 1 10.3
17 helix syndrome 10.3
18 retinoblastoma 10.2
19 prostate cancer 10.2
20 adult t-cell leukemia 10.2
21 acute leukemia 10.2
22 rubinstein-taybi syndrome 1 10.1
23 hypoxia 10.1
24 fibrosis of extraocular muscles, congenital, 1 10.1
25 leukemia, acute lymphoblastic 10.1
26 cycloplegia 10.1 PDE6C GNAT2
27 yemenite deaf-blind hypopigmentation syndrome 10.1
28 huntington disease 10.1
29 hepatocellular carcinoma 10.0
30 leukemia, acute monocytic 10.0
31 ovarian cancer 10.0
32 rapidly involuting congenital hemangioma 10.0
33 melanoma 10.0
34 pulmonary fibrosis 10.0
35 monocytic leukemia 10.0
36 viral infectious disease 10.0
37 acute monoblastic leukemia 10.0
38 back pain 10.0
39 retinitis pigmentosa 44 10.0 CNGB3 CNGA3
40 polykaryocytosis inducer 10.0
41 immune deficiency disease 10.0
42 myeloma, multiple 10.0
43 pancreatic cancer 10.0
44 ataxia and polyneuropathy, adult-onset 10.0
45 myelodysplastic syndrome 10.0
46 microphthalmia 10.0
47 squamous cell carcinoma 10.0
48 adenocarcinoma 10.0
49 herpes simplex 10.0
50 glioma 10.0

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



Diseases related to Colorblindness, Partial, Protan Series

Symptoms & Phenotypes for Colorblindness, Partial, Protan Series

Human phenotypes related to Colorblindness, Partial, Protan Series:

31
# Description HPO Frequency HPO Source Accession
1 protanomaly 31 HP:0200018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
colorblindness, partial, protan series
red series defect

Clinical features from OMIM®:

303900 (Updated 05-Apr-2021)

UMLS symptoms related to Colorblindness, Partial, Protan Series:


visual disturbance

Drugs & Therapeutics for Colorblindness, Partial, Protan Series

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Completed NCT04060238

Search NIH Clinical Center for Colorblindness, Partial, Protan Series

Genetic Tests for Colorblindness, Partial, Protan Series

Genetic tests related to Colorblindness, Partial, Protan Series:

# Genetic test Affiliating Genes
1 Protan Defect 29

Anatomical Context for Colorblindness, Partial, Protan Series

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

40
Retina

Publications for Colorblindness, Partial, Protan Series

Articles related to Colorblindness, Partial, Protan Series:

(show all 24)
# Title Authors PMID Year
1
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. 6 57
12051694 2002
2
The molecular basis of variation in human color vision. 57
15811001 2005
3
The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. 57
11772996 2002
4
Is color vision deficiency an advantage under scotopic conditions? 57
11726645 2001
5
Melatonin regulation in humans with color vision deficiencies. 57
8768862 1996
6
Gene conversion between red and defective green opsin gene in blue cone monochromacy. 57
8666378 1995
7
Numbers and ratios of visual pigment genes for normal red-green color vision. 57
7863325 1995
8
Genetic heterogeneity among blue-cone monochromats. 57
8213841 1993
9
Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. 57
1415215 1992
10
Polymorphism in red photopigment underlies variation in colour matching. 57
1557123 1992
11
Molecular basis of abnormal red-green color vision: a family with three types of color vision defects. 57
2847528 1988
12
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. 57
2937147 1986
13
Molecular genetics of inherited variation in human color vision. 57
3485310 1986
14
Linkage disequilibrium for two X-linked genes in Sardinia and its bearing on the statistical mapping of the human X chromosome. 57
301840 1977
15
Genetics of protan and deutan color-vision anomalies: an instructive family. 57
5365760 1969
16
Estimation of the recombination fraction between the protan and deutan loci. 57
5365761 1969
17
Heredity of two normal types of colour vision. 57
5655963 1968
18
RECOMBINATION BETWEEN PROTAN AND DEUTAN GENES; DATA ON THEIR RELATIVE POSITONS IN RESPECT OF THE G6PD LOCUS. 57
14243382 1964
19
Evaluation of the Tokyo Medical College Color Vision Test. 57
13913884 1961
20
Spectral sensitivity in color-defective subjects and heterozygous carriers. 57
13670291 1959
21
Two families with parents of different types of red-green blindness. 57
13469157 1957
22
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. 61
28166717 2017
23
Red color blindness. 61
100181 1978
24
Sex chromatin of cone cells of human retina. 61
5859732 1965

Variations for Colorblindness, Partial, Protan Series

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OPN1LW NM_020061.6(OPN1LW):c.1013G>A (p.Gly338Glu) SNV Pathogenic 10506 rs104894913 GRCh37: X:153424319-153424319
GRCh38: X:154158844-154158844

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

72
# Symbol AA change Variation ID SNP ID
1 OPN1LW p.Gly338Glu VAR_064054 rs104894913

Expression for Colorblindness, Partial, Protan Series

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

Pathways for Colorblindness, Partial, Protan Series

Pathways related to Colorblindness, Partial, Protan Series according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.23 RHO GNAT2 CNGB3 CNGA3
2
Show member pathways
11.22 RHO PDE6C GNAT2 CNGB3 CNGA3
3 10.11 RHO OPN1LW

GO Terms for Colorblindness, Partial, Protan Series

Cellular components related to Colorblindness, Partial, Protan Series according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 9.32 RHO GNAT2
2 photoreceptor disc membrane GO:0097381 9.26 RHO OPN1LW
3 photoreceptor outer segment membrane GO:0042622 9.16 RHO GNAT2
4 transmembrane transporter complex GO:1902495 8.96 CNGB3 CNGA3
5 photoreceptor outer segment GO:0001750 8.92 RHO OPN1LW GNAT2 CNGB3

Biological processes related to Colorblindness, Partial, Protan Series according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.93 CNGA3 CNGB3 GNAT2 OPN1LW PDE6C RHO
2 retinoid metabolic process GO:0001523 9.48 OPN1LW RHO
3 cellular response to light stimulus GO:0071482 9.43 RHO OPN1LW
4 response to stimulus GO:0050896 9.43 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3
5 protein-chromophore linkage GO:0018298 9.4 RHO OPN1LW
6 sensory perception of light stimulus GO:0050953 9.37 RHO PDE6C
7 phototransduction GO:0007602 9.33 RHO OPN1LW GNAT2
8 retinal cone cell development GO:0046549 9.32 PDE6C GNAT2
9 phototransduction, visible light GO:0007603 9.26 RHO PDE6C
10 visual perception GO:0007601 9.1 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3

Molecular functions related to Colorblindness, Partial, Protan Series according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor activity GO:0009881 9.32 RHO OPN1LW
2 intracellular cAMP-activated cation channel activity GO:0005222 9.26 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 9.16 CNGB3 CNGA3
4 cGMP binding GO:0030553 9.13 PDE6C CNGB3 CNGA3
5 G protein-coupled photoreceptor activity GO:0008020 8.8 RHO OPN1LW GNAT2

Sources for Colorblindness, Partial, Protan 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
Content
Loading form....