MCID: CLR133
MIFTS: 34

Colorblindness, Partial, Protan Series

Categories: Genetic diseases, Eye diseases

Aliases & Classifications for Colorblindness, Partial, Protan Series

MalaCards integrated aliases for Colorblindness, Partial, Protan Series:

Name: Colorblindness, Partial, Protan Series 57 75 40
Protan Defect 12 29 6
Protanopia 57 12 75
Colorblindness, Protan 57 13
Red Color Blindness 12 15
Red Colorblindness 57 75
Cbp 57 75
Color Blindness, Red 73

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
colorblindness, partial, protan series:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 303900
Disease Ontology 12 DOID:13910
ICD10 33 H53.54
ICD9CM 35 368.51
MeSH 44 D003117
SNOMED-CT 68 51445007
UMLS 73 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)

MalaCards based summary : Colorblindness, Partial, Protan Series, also known as protan defect, is related to color vision deficiency and color blindness, 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 Metabolism of fat-soluble vitamins and Diseases associated with visual transduction. Affiliated tissues include eye and testes, and related phenotype is protanomaly.

UniProtKB/Swiss-Prot : 75 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 57)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 30.5 OPN1LW OPN1MW
2 color blindness 30.0 CNGB3 OPN1LW OPN1MW
3 myopia 29.5 OPN1LW OPN1MW RHO
4 polymicrogyria, bilateral perisylvian, x-linked 11.9
5 colorblindness, partial, deutan series 11.1
6 leukemia 10.3
7 chromosome 16p13.3 deletion syndrome, proximal 10.2
8 stargardt disease 1 10.2 CNGB3 RHO
9 myeloid leukemia 10.2
10 leukemia, acute myeloid 10.2
11 tritanopia 10.2 CNGB3 RHO
12 cone dystrophy 10.1 CNGB3 OPN1LW OPN1MW
13 prostatitis 10.0
14 t-cell leukemia 10.0
15 prostate cancer 10.0
16 lung cancer 10.0
17 adenocarcinoma 9.9
18 type i 9.9
19 ocular albinism 9.9
20 albinism 9.9
21 ovarian cancer 9.8
22 aging 9.8
23 myelodysplastic syndrome 9.8
24 hepatitis 9.8
25 sarcoma 9.8
26 esophagitis 9.8
27 stargardt disease 9.7 CNGB3 RHO
28 breast cancer 9.7
29 retinoblastoma 9.7
30 small cell cancer of the lung 9.7
31 wilms tumor 5 9.7
32 human immunodeficiency virus type 1 9.7
33 lung cancer susceptibility 3 9.7
34 leukemia, acute lymphoblastic 9.7
35 wilms tumor 6 9.7
36 chronic myelomonocytic leukemia 9.7
37 hepatitis b 9.7
38 pulmonary fibrosis 9.7
39 silicosis 9.7
40 lymphoma 9.7
41 lymphoblastic leukemia 9.7
42 squamous cell carcinoma 9.7
43 colon adenocarcinoma 9.7
44 ischemia 9.7
45 laryngitis 9.7
46 pancreatitis 9.7
47 thyroiditis 9.7
48 neuronitis 9.7
49 herpes simplex 9.7
50 human t-cell leukemia virus type 1 9.7

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
colorblindness, partial, protan series
red series defect


Clinical features from OMIM:

303900

Human phenotypes related to Colorblindness, Partial, Protan Series:

32
# Description HPO Frequency HPO Source Accession
1 protanomaly 32 HP:0200018

UMLS symptoms related to Colorblindness, Partial, Protan Series:


visual disturbance

Drugs & Therapeutics for Colorblindness, Partial, Protan Series

Search Clinical Trials , 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 OPN1LW

Anatomical Context for Colorblindness, Partial, Protan Series

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

41
Eye, Testes

Publications for Colorblindness, Partial, Protan Series

Articles related to Colorblindness, Partial, Protan Series:

# Title Authors Year
1
Protanopia (red color-blindness) in medaka: a simple system for producing color-blind fish and testing their spectral sensitivity. ( 28166717 )
2017
2
Red color blindness. ( 100181 )
1978

Variations for Colorblindness, Partial, Protan Series

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

75
# Symbol AA change Variation ID SNP ID
1 OPN1LW p.Gly338Glu VAR_064054

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPN1LW NM_020061.5(OPN1LW): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs104894913 GRCh37 Chromosome X, 153424319: 153424319
2 OPN1LW NM_020061.5(OPN1LW): c.1013G> A (p.Gly338Glu) single nucleotide variant Pathogenic rs104894913 GRCh38 Chromosome X, 154158844: 154158844

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
Show member pathways
11.66 OPN1LW OPN1MW RHO
2
Show member pathways
10.23 OPN1LW OPN1MW
3 9.75 OPN1LW OPN1MW RHO

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 integral component of plasma membrane GO:0005887 9.55 CNGB3 OPN1LW OPN1MW RHO XG
2 photoreceptor disc membrane GO:0097381 9.13 OPN1LW OPN1MW RHO
3 photoreceptor outer segment GO:0001750 8.92 CNGB3 OPN1LW OPN1MW RHO

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

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.71 CNGB3 OPN1LW OPN1MW RHO
2 visual perception GO:0007601 9.56 CNGB3 OPN1LW OPN1MW RHO
3 retinoid metabolic process GO:0001523 9.5 OPN1LW OPN1MW RHO
4 positive regulation of cytokinesis GO:0032467 9.43 OPN1LW OPN1MW
5 detection of visible light GO:0009584 9.37 OPN1LW OPN1MW
6 phototransduction GO:0007602 9.33 OPN1LW OPN1MW RHO
7 protein-chromophore linkage GO:0018298 9.13 OPN1LW OPN1MW RHO
8 cellular response to light stimulus GO:0071482 8.8 OPN1LW OPN1MW RHO

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 9.13 OPN1LW OPN1MW RHO
2 G-protein coupled photoreceptor activity GO:0008020 8.8 OPN1LW OPN1MW RHO

Sources for Colorblindness, Partial, Protan Series

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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