MCID: CLR063
MIFTS: 34

Colorblindness, Deutan malady

Categories: Genetic diseases (common), Eye diseases

Aliases & Classifications for Colorblindness, Deutan

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Aliases & Descriptions for Colorblindness, Deutan:

Name: Colorblindness, Deutan 52 12
Colorblindness, Partial, Deutan Series 70 27 68
Red-Green Color Blindness 11 24 13
Deuteranopia 11 70
Reduced Red-Green Discrimination 11
Color Blindness, Red-Green 68
 
Red Green Colorblindness 24
Deutan Colorblindness 70
Green Colorblindness 70
Deutan Defect 11
Dcb 70
Cbd 70

Characteristics:

HPO:

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

Classifications:



External Ids:

OMIM52 303800
Disease Ontology11 DOID:13909
ICD1030 H53.53
SNOMED-CT62 246674000, 77479002
ICD9CM32 368.52
MeSH39 D003117
MedGen37 C0155016

Summaries for Colorblindness, Deutan

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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... (303800) more...

MalaCards based summary: Colorblindness, Deutan, also known as colorblindness, partial, deutan series, is related to corticobasal degeneration and colorblindness, protan, and has symptoms including deuteranomaly, visual disturbance and visual disturbance. An important gene associated with Colorblindness, Deutan is OPN1MW (Opsin 1 (Cone Pigments), Medium-Wave-Sensitive), and among its related pathways are Opsins and Phototransduction. Affiliated tissues include eye, and related mouse phenotype hematopoietic system.

UniProtKB/Swiss-Prot:70 Colorblindness, partial, deutan series: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening 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, Deutan

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1corticobasal degeneration11.4
2colorblindness, protan11.0
3corticobasal degeneration, mapt-related10.8
4bornholm eye disease10.8
5dementia, frontotemporal10.7
6pick disease10.7
7supranuclear palsy, progressive10.7
8berylliosis10.7
9common bile duct disease10.7
10beryllium disease10.7
11mirizzi syndrome10.7
12chronic beryllium disease10.7
13stt3a-cdg10.4ABCA4, CNGB3
14color blindness10.3
15stargardt disease 110.3ABCA4, CNGB3
16pure red-cell aplasia10.3CNGB3, OPN1MW
17patau syndrome10.2CNGB3, RHO
18impetigo herpetiformis10.1ABCA4, RPE65
19x-linked infantile nystagmus10.1ABCA4, CNGB3, RHO
20spasticity10.1
21osteopoikilosis and dacryocystitis10.1ABCA4, RHO, RPE65
22hypertrichotic osteochondrodysplasia10.0ABCA4, RHO, RPE65
23ichthyosis, congenital, autosomal recessive 310.0ABCA4, RHO, RPE65
24hyperinsulinism10.0ABCA4, RHO, RPE65
25carnitine deficiency, systemic primary10.0ABCA4, RHO, RPE65
26porokeratosis 9, multiple types10.0ABCA4, RHO, RPE65
27immunodeficiency 41 with lymphoproliferation and autoimmunity10.0ABCA4, RHO, RPE65
28localized scleroderma9.9ABCA4, RHO, RPE65
29tendinitis9.8ABCA4, CNGB3, RHO, RPE65
30combined oxidative phosphorylation deficiency 39.8RHO, RPE65
31ovarian embryonal carcinoma9.8ABCA4, CNGB3, RHO, RPE65
32posterior polar cataract9.8ABCA4, CNGB3, RHO, RPE65
33limbal stem cell deficiency9.8ABCA4, RHO, RPE65
34multiple system atrophy9.7
35multiple myeloma9.7
36alopecia9.7
37dementia9.7
38obstructive jaundice9.7
39acute cholangitis9.7
40tuberculosis9.7
41cholangitis9.7
42van buchem disease9.7ABCA4, RHO, RPE65
43macular degeneration, age-related, 19.3ABCA4, CD59, NLRP3, RHO, RPE65
44acute biphenotypic leukemia9.3CNGB3, OPN1MW, TEX28, TEX28P2
45waisman syndrome8.9CNGB3, OPN1MW, RHO, TEX28, TEX28P2
46lumbosacral plexus lesion8.7CNGB3, RHO, TEX28, TEX28P2, XG
47acquired color blindness6.5ABCA4, CD59, CNGB3, F8, NLRP3, OPN1MW

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



Diseases related to colorblindness, deutan

Symptoms & Phenotypes for Colorblindness, Deutan

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Symptoms by clinical synopsis from OMIM:

303800

Clinical features from OMIM:

303800

Human phenotypes related to Colorblindness, Deutan:

 64
id Description HPO Frequency HPO Source Accession
1 deuteranomaly64 HP:0011520

UMLS symptoms related to Colorblindness, Deutan:


visual disturbance

MGI Mouse Phenotypes related to Colorblindness, Deutan according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053977.7ABCA4, CD59, F8, NLRP3, RHO, RPE65

Drugs & Therapeutics for Colorblindness, Deutan

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Colorblindness, Deutan

Genetic Tests for Colorblindness, Deutan

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Genetic tests related to Colorblindness, Deutan:

id Genetic test Affiliating Genes
1 Colorblindness, Partial, Deutan Series27
2 Red-Green Color Blindness24

Anatomical Context for Colorblindness, Deutan

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MalaCards organs/tissues related to Colorblindness, Deutan:

36
Eye

Publications for Colorblindness, Deutan

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Variations for Colorblindness, Deutan

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

70
id Symbol AA change Variation ID SNP ID
1OPN1MWp.Cys203ArgVAR_004841rs104894914
2OPN1MWp.Asn94LysVAR_064051rs104894915
3OPN1MWp.Arg330GlnVAR_064053rs104894916

Clinvar genetic disease variations for Colorblindness, Deutan:

5
id Gene Variation Type Significance SNP ID Assembly Location
1OPN1MWNM_000513.2(OPN1MW): c.607T> C (p.Cys203Arg)SNVPathogenicrs104894914GRCh37Chr X, 153457207: 153457207
2OPN1MWNM_000513.2(OPN1MW): c.989G> A (p.Arg330Gln)SNVPathogenicrs104894916GRCh37Chr X, 153461425: 153461425
3OPN1MWNM_000513.2(OPN1MW): c.-112A> CSNVPathogenicrs724159983GRCh38Chr X, 154182566: 154182566
4OPN1MWNM_000513.2(OPN1MW): c.282C> A (p.Asn94Lys)SNVPathogenicrs104894915GRCh37Chr X, 153453428: 153453428

Expression for genes affiliated with Colorblindness, Deutan

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

Pathways for genes affiliated with Colorblindness, Deutan

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GO Terms for genes affiliated with Colorblindness, Deutan

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor disc membraneGO:009738110.2ABCA4, RHO
2photoreceptor outer segment membraneGO:00426229.8OPN1MW, RHO
3photoreceptor outer segmentGO:00017509.5ABCA4, CNGB3, OPN1MW, RHO
4integral component of plasma membraneGO:00058878.9ABCA4, CNGB3, OPN1MW, RHO, ST14, XG

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cellular response to light stimulusGO:007148210.4OPN1MW, RHO
2phototransductionGO:000760210.4OPN1MW, RHO
3protein-chromophore linkageGO:001829810.4OPN1MW, RHO
4response to light stimulusGO:000941610.4RHO, RPE65
5photoreceptor cell maintenanceGO:004549410.3ABCA4, RHO
6phototransduction, visible lightGO:000760310.3ABCA4, RHO
7retinoid metabolic processGO:00015239.7ABCA4, OPN1MW, RHO, RPE65
8visual perceptionGO:00076018.8ABCA4, CNGB3, OPN1MW, RHO, RPE65

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

idNameGO IDScoreTop Affiliating Genes
1G-protein coupled photoreceptor activityGO:00080209.8OPN1MW, RHO

Sources for Colorblindness, Deutan

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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