MCID: CLR062
MIFTS: 29

Colorblindness, Protan malady

Categories: Genetic diseases (common), Eye diseases

Aliases & Classifications for Colorblindness, Protan

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Aliases & Descriptions for Colorblindness, Protan:

Name: Colorblindness, Protan 51 12
Colorblindness, Partial, Protan Series 69 67
Red Color Blindness 11 13
Protan Defect 11 26
 
Protanopia 11 69
Color Blindness, Red 67
Red Colorblindness 69
Cbp 69

Characteristics:

HPO:

63
colorblindness, protan:
Inheritance: x-linked recessive inheritance

Classifications:



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OMIM51 303900
Disease Ontology11 DOID:13910
ICD1029 H53.54
SNOMED-CT61 51445007
ICD9CM31 368.51
MeSH38 D003117
MedGen36 C0155015

Summaries for Colorblindness, Protan

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OMIM:51 Normal color vision in humans is trichromatic, being based on 3 classes of cone that are maximally sensitive to light... (303900) more...

MalaCards based summary: Colorblindness, Protan, also known as colorblindness, partial, protan series, is related to colorblindness, deutan and polymicrogyria, bilateral perisylvian, and has symptoms including protanomaly, visual disturbance and visual disturbance. An important gene associated with Colorblindness, Protan is OPN1LW (Opsin 1 (Cone Pigments), Long-Wave-Sensitive), and among its related pathways is Opsins. Affiliated tissues include eye.

UniProtKB/Swiss-Prot:69 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, Protan

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



Diseases related to colorblindness, protan

Symptoms for Colorblindness, Protan

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Symptoms by clinical synopsis from OMIM:

303900

Clinical features from OMIM:

303900

Human phenotypes related to Colorblindness, Protan:

 63
id Description HPO Frequency HPO Source Accession
1 protanomaly63 HP:0200018

UMLS symptoms related to Colorblindness, Protan:


visual disturbance

Drugs & Therapeutics for Colorblindness, Protan

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Colorblindness, Protan

Genetic Tests for Colorblindness, Protan

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Genetic tests related to Colorblindness, Protan:

id Genetic test Affiliating Genes
1 Protan Defect26

Anatomical Context for Colorblindness, Protan

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MalaCards organs/tissues related to Colorblindness, Protan:

35
Eye

Animal Models for Colorblindness, Protan or affiliated genes

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Publications for Colorblindness, Protan

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Variations for Colorblindness, Protan

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

69
id Symbol AA change Variation ID SNP ID
1OPN1LWp.Gly338GluVAR_064054

Clinvar genetic disease variations for Colorblindness, Protan:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OPN1LWNM_020061.5(OPN1LW): c.1013G> A (p.Gly338Glu)SNVPathogenicrs104894913GRCh37Chr X, 153424319: 153424319

Expression for genes affiliated with Colorblindness, Protan

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

Pathways for genes affiliated with Colorblindness, Protan

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

idSuper pathwaysScoreTop Affiliating Genes
19.7OPN1LW, RHO

GO Terms for genes affiliated with Colorblindness, Protan

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:00426229.7OPN1LW, RHO
2photoreceptor outer segmentGO:00017509.3CNGB3, OPN1LW, RHO

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.2OPN1LW, RHO
2phototransductionGO:000760210.1OPN1LW, RHO
3protein-chromophore linkageGO:001829810.0OPN1LW, RHO
4retinoid metabolic processGO:00015239.7OPN1LW, RHO
5visual perceptionGO:00076019.4CNGB3, OPN1LW, RHO

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:00080209.7OPN1LW, RHO

Sources for Colorblindness, Protan

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet