CBP
MCID: CLR133
MIFTS: 34

Colorblindness, Partial, Protan Series (CBP)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Colorblindness, Partial, Protan Series

MalaCards integrated aliases for Colorblindness, Partial, Protan Series:

Name: Colorblindness, Partial, Protan Series 58 76 41
Red Color Blindness 12 15 17
Protan Defect 12 30 6
Protanopia 58 12 76
Colorblindness, Protan 58 13
Red Colorblindness 58 76
Cbp 58 76
Color Blindness, Red 74

Characteristics:

OMIM:

58
Inheritance:
x-linked


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:13910
OMIM 58 303900
ICD9CM 36 368.51
MeSH 45 D003117
SNOMED-CT 69 51445007
ICD10 34 H53.54
UMLS 74 C0155015

Summaries for Colorblindness, Partial, Protan 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) 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 red color blindness, is related to polymicrogyria, bilateral perisylvian, x-linked and colorblindness, partial, deutan series, 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 is Opsins. Affiliated tissues include lung, prostate and t cells, and related phenotype is protanomaly.

UniProtKB/Swiss-Prot : 76 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 86)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria, bilateral perisylvian, x-linked 11.9
2 colorblindness, partial, deutan series 11.3
3 leukemia 10.5
4 chromosome 16p13.3 deletion syndrome, proximal 10.4
5 myeloid leukemia 10.3
6 leukemia, acute myeloid 10.3
7 t-cell leukemia 10.1
8 prostate cancer 10.1
9 prostate cancer, hereditary, 8 10.1
10 prostate cancer, hereditary, 6 10.1
11 hepatitis 10.1
12 ovarian cancer 10.0
13 retinoblastoma 10.0
14 rubinstein-taybi syndrome 1 10.0
15 lung cancer 10.0
16 leukemia, acute lymphoblastic 10.0
17 lymphocytic leukemia 10.0
18 adenocarcinoma 10.0
19 yemenite deaf-blind hypopigmentation syndrome 10.0
20 charcot-marie-tooth disease 10.0
21 ocular albinism 10.0
22 tooth disease 10.0
23 myopia 10.0
24 color blindness 10.0
25 muscular atrophy 10.0
26 albinism 10.0
27 color vision deficiency 10.0
28 breast cancer 10.0
29 kaposi sarcoma 10.0
30 gallbladder disease 1 10.0
31 hepatitis c virus 10.0
32 myelodysplastic syndrome 10.0
33 helix syndrome 10.0
34 end stage renal failure 10.0
35 osteoarthritis 10.0
36 scoliosis 10.0
37 sarcoma 10.0
38 hepatitis c 10.0
39 cone dystrophy 9.9 OPN1LW RHO
40 alzheimer disease 9.8
41 blood group, colton system 9.8
42 colorectal cancer 9.8
43 hepatocellular carcinoma 9.8
44 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.8
45 huntington disease 9.8
46 rheumatoid arthritis 9.8
47 scoliosis, isolated 1 9.8
48 small cell cancer of the lung 9.8
49 fanconi anemia, complementation group a 9.8
50 indifference to pain, congenital, autosomal recessive 9.8

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:

33
# Description HPO Frequency HPO Source Accession
1 protanomaly 33 HP:0200018

Symptoms via clinical synopsis from OMIM:

58
Eyes:
colorblindness, partial, protan series
red series defect

Clinical features from OMIM:

303900

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 30 OPN1LW

Anatomical Context for Colorblindness, Partial, Protan Series

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

42
Lung, Prostate, T Cells, Myeloid, Kidney, 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
Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. ( 12051694 )
2002
3
Red color blindness. ( 100181 )
1978

Variations for Colorblindness, Partial, Protan Series

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

76
# 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 9.58 OPN1LW 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 photoreceptor outer segment GO:0001750 8.96 OPN1LW RHO
2 photoreceptor disc membrane GO:0097381 8.62 OPN1LW RHO

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.26 OPN1LW RHO
2 phototransduction GO:0007602 9.16 OPN1LW RHO
3 cellular response to light stimulus GO:0071482 8.96 OPN1LW RHO
4 protein-chromophore linkage GO:0018298 8.62 OPN1LW RHO

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

# Name GO ID Score Top Affiliating Genes
1 G protein-coupled photoreceptor activity GO:0008020 8.96 OPN1LW RHO
2 photoreceptor activity GO:0009881 8.62 OPN1LW RHO

Sources for Colorblindness, Partial, Protan 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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