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 52 12
Colorblindness, Partial, Protan Series 70 68
Red Color Blindness 11 13
Protan Defect 11 27
 
Protanopia 11 70
Color Blindness, Red 68
Red Colorblindness 70
Cbp 70

Characteristics:

HPO:

64
colorblindness, protan:
Inheritance: x-linked recessive inheritance

Classifications:



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OMIM52 303900
Disease Ontology11 DOID:13910
ICD1030 H53.54
SNOMED-CT62 51445007
ICD9CM32 368.51
MeSH39 D003117
MedGen37 C0155015

Summaries for Colorblindness, Protan

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OMIM:52 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:70 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 protanomaly64 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 Defect27

Anatomical Context for Colorblindness, Protan

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MalaCards organs/tissues related to Colorblindness, Protan:

36
Eye

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:

70
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:00017509.7CNGB3, OPN1LW, RHO

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.4OPN1LW, RHO
2phototransductionGO:000760210.4OPN1LW, RHO
3protein-chromophore linkageGO:001829810.4OPN1LW, RHO
4retinoid metabolic processGO:000152310.3OPN1LW, 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet