MCID: TRT020
MIFTS: 44

Tritanopia

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Tritanopia

MalaCards integrated aliases for Tritanopia:

Name: Tritanopia 57 12 59 75 29 6 40
Colorblindness, Tritan 57 13
Blue Color Blindness 12 15
Blue Colorblindness 57 75
Cbt 57 75
Colorblindness, Tritan; Cbt 57
Colorblindness, Tritanopic 57
Tritan Colour Blindness 59
Tritan Color Blindness 75
Blue Colour Blindness 59
Congenital Tritanopia 59
Color Blindness, Blue 73
Color Vision Defects 44
Color Vision Defect 73
Color Blindness 73
Tritan Defect 12

Characteristics:

Orphanet epidemiological data:

59
tritanopia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant (7q31.3-q32)


HPO:

32
tritanopia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 190900
Disease Ontology 12 DOID:11661
ICD10 33 H53.55
ICD9CM 35 368.53
MeSH 44 D003117
SNOMED-CT 68 51886007 85049009
Orphanet 59 ORPHA88629
ICD10 via Orphanet 34 H53.5
UMLS via Orphanet 74 C0155017
MedGen 42 C0155017
SNOMED-CT via HPO 69 263681008

Summaries for Tritanopia

Disease Ontology : 12 A color blindness that is characterised by a selective deficiency of blue vision, has material basis in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function.

MalaCards based summary : Tritanopia, also known as colorblindness, tritan, is related to blue cone monochromacy and misophonia, and has symptoms including photophobia, visual disturbance and other specified visual disturbances. An important gene associated with Tritanopia is OPN1SW (Opsin 1, Short Wave Sensitive), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. Affiliated tissues include eye and retina, and related phenotypes are tritanomaly and abnormal light-adapted electroretinogram

OMIM : 57 Tritanopia is an autosomal dominant disorder of human vision characterized by a selective deficiency of blue spectral sensitivity (Weitz et al., 1992). (190900)

UniProtKB/Swiss-Prot : 75 Tritan color blindness: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.

Wikipedia : 76 Color blindness, also known as color vision deficiency, is the decreased ability to see color or... more...

Related Diseases for Tritanopia

Diseases related to Tritanopia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 blue cone monochromacy 29.9 CNGB3 RHO
2 misophonia 11.0
3 color vision deficiency 11.0
4 paragangliomas 1 10.9
5 cone-rod dystrophy 6 10.6 CNGB3 GUCY2D
6 anxiety 10.4
7 panic disorder 10.4
8 color blindness 10.3 CNGB3 OPN1SW
9 depression 10.3
10 colorblindness, partial, protan series 10.3 CNGB3 RHO
11 choroidal dystrophy, central areolar, 1 10.3 GUCY2D TIMP3
12 hereditary retinal dystrophy 10.3 GUCY2D RHO
13 stargardt disease 1 10.3 CNGB3 RHO
14 agoraphobia 10.2
15 red-green color blindness 10.2 CNGB3 RHO
16 hereditary choroidal atrophy 10.2 GUCY2D TIMP3
17 yemenite deaf-blind hypopigmentation syndrome 10.2 GUCY2D RHO
18 partial central choroid dystrophy 10.2 GUCY2D TIMP3
19 social phobia 10.1
20 bulimia nervosa 10.1
21 chronic fatigue syndrome 10.0
22 3-methylglutaconic aciduria, type iii 10.0
23 retinal disease 10.0 CNGB3 GUCY2D RHO
24 obsessive-compulsive disorder 9.9
25 mutism 9.9
26 eating disorder 9.9
27 elective mutism 9.9
28 chronic pain 9.9
29 retinitis pigmentosa 26 9.9 CNGB3 GUCY2D
30 aging 9.9
31 diabetes mellitus 9.9
32 retinitis 9.9
33 conduct disorder 9.8
34 dementia 9.8
35 generalized anxiety disorder 9.8
36 substance dependence 9.8
37 multiple sclerosis 9.7
38 attention deficit-hyperactivity disorder 9.7
39 schizophrenia 9.7
40 stiff-person syndrome 9.7
41 autism 9.7
42 anorexia nervosa 9.7
43 trichotillomania 9.7
44 gastric cancer 9.7
45 alacrima, achalasia, and mental retardation syndrome 9.7
46 brain injury 9.7
47 hepatitis 9.7
48 asperger syndrome 9.7
49 autism spectrum disorder 9.7
50 body dysmorphic disorder 9.7

Graphical network of the top 20 diseases related to Tritanopia:



Diseases related to Tritanopia

Symptoms & Phenotypes for Tritanopia

Symptoms via clinical synopsis from OMIM:

57
Eyes:
tritanopia
defective blue and yellow vision
normal red and green vision

Lab:
abnormal blue cone erg


Clinical features from OMIM:

190900

Human phenotypes related to Tritanopia:

32
# Description HPO Frequency HPO Source Accession
1 tritanomaly 32 HP:0000552
2 abnormal light-adapted electroretinogram 32 HP:0008275

UMLS symptoms related to Tritanopia:


photophobia, visual disturbance, other specified visual disturbances, subjective visual disturbance, unspecified

MGI Mouse Phenotypes related to Tritanopia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AIF1 BMP7 CNGB3 GUCY2D OFD1 OPN1SW
2 vision/eye MP:0005391 9.17 AIF1 BMP7 CNGB3 GUCY2D OPN1SW RHO

Drugs & Therapeutics for Tritanopia

Search Clinical Trials , NIH Clinical Center for Tritanopia

Cochrane evidence based reviews: color vision defects

Genetic Tests for Tritanopia

Genetic tests related to Tritanopia:

# Genetic test Affiliating Genes
1 Tritanopia 29 OPN1SW

Anatomical Context for Tritanopia

MalaCards organs/tissues related to Tritanopia:

41
Eye, Retina

Publications for Tritanopia

Articles related to Tritanopia:

(show all 22)
# Title Authors Year
1
Small field tritanopia in the peripheral retina. ( 27409678 )
2016
2
Effects of ageing on postreceptoral short-wavelength gain control: transient tritanopia increases with age. ( 20457174 )
2010
3
An effect of luminance contrast on high-spatial-frequency tritanopia. ( 16583763 )
2006
4
Transient tritanopia in migraine: evidence for a large-field retinal abnormality in blue-yellow opponent pathways. ( 17065534 )
2006
5
Effect of foveal tritanopia on reaction times to chromatic stimuli. ( 15518194 )
2004
6
Extent of foveal tritanopia in diabetes mellitus. ( 12770973 )
2003
7
High-spatial-frequency tritanopia: S-filling-in or S-filtering-out? ( 11296503 )
2001
8
Rods induce transient tritanopia in blue cone monochromats. ( 10343809 )
1999
9
Theory of wavelength discrimination in tritanopia. ( 8478749 )
1993
10
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. ( 1531728 )
1992
11
Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. ( 1386496 )
1992
12
The role of small-field tritanopia in two measures of colour vision. ( 2371065 )
1990
13
Transient tritanopia of a second kind. ( 3660624 )
1987
14
Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy. ( 3876823 )
1985
15
Classical tritanopia. ( 6603508 )
1983
16
An action spectrum for the production of transient tritanopia. ( 6623936 )
1983
17
Perception of colour in unilateral tritanopia. ( 6603509 )
1983
18
Transient tritanopia: its abolition at high intensities. ( 7292996 )
1981
19
Transient tritanopia after flicker adaptation. ( 7292995 )
1981
20
Foveal tritanopia. ( 6976039 )
1981
21
Transient tritanopia experiment in blue cone monochromacy. ( 309557 )
1978
22
Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy. ( 5314165 )
1971

Variations for Tritanopia

UniProtKB/Swiss-Prot genetic disease variations for Tritanopia:

75
# Symbol AA change Variation ID SNP ID
1 OPN1SW p.Gly79Arg VAR_004838 rs104894031
2 OPN1SW p.Ser214Pro VAR_004839 rs104894032
3 OPN1SW p.Pro264Ser VAR_004840 rs104894033

ClinVar genetic disease variations for Tritanopia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 OPN1SW NM_001708.2(OPN1SW): c.235G> A (p.Gly79Arg) single nucleotide variant Pathogenic rs104894031 GRCh37 Chromosome 7, 128415610: 128415610
2 OPN1SW NM_001708.2(OPN1SW): c.235G> A (p.Gly79Arg) single nucleotide variant Pathogenic rs104894031 GRCh38 Chromosome 7, 128775556: 128775556
3 OPN1SW NM_001708.2(OPN1SW): c.640T> C (p.Ser214Pro) single nucleotide variant Pathogenic rs104894032 GRCh37 Chromosome 7, 128414599: 128414599
4 OPN1SW NM_001708.2(OPN1SW): c.640T> C (p.Ser214Pro) single nucleotide variant Pathogenic rs104894032 GRCh38 Chromosome 7, 128774545: 128774545
5 OPN1SW NM_001708.2(OPN1SW): c.790C> T (p.Pro264Ser) single nucleotide variant Pathogenic rs104894033 GRCh37 Chromosome 7, 128413840: 128413840
6 OPN1SW NM_001708.2(OPN1SW): c.790C> T (p.Pro264Ser) single nucleotide variant Pathogenic rs104894033 GRCh38 Chromosome 7, 128773786: 128773786

Expression for Tritanopia

Search GEO for disease gene expression data for Tritanopia.

Pathways for Tritanopia

GO Terms for Tritanopia

Cellular components related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear outer membrane GO:0005640 9.16 GUCY2D SNCA
2 photoreceptor outer segment GO:0001750 9.13 CNGB3 OPN1SW RHO
3 photoreceptor disc membrane GO:0097381 8.8 GUCY2D OPN1SW RHO

Biological processes related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phototransduction GO:0007602 9.4 OPN1SW RHO
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCY2D RHO
3 response to stimulus GO:0050896 9.35 CNGB3 GUCY2D OPN1SW RHO TIMP3
4 protein-chromophore linkage GO:0018298 9.32 OPN1SW RHO
5 cellular response to light stimulus GO:0071482 9.26 OPN1SW RHO
6 microglial cell activation GO:0001774 9.16 AIF1 SNCA
7 visual perception GO:0007601 9.02 CNGB3 GUCY2D OPN1SW RHO TIMP3

Molecular functions related to Tritanopia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 9.32 OFD1 SNCA
2 cGMP binding GO:0030553 9.26 CNGB3 PDE5A
3 photoreceptor activity GO:0009881 9.16 OPN1SW RHO
4 G-protein coupled photoreceptor activity GO:0008020 8.96 OPN1SW RHO
5 BMP receptor binding GO:0070700 8.62 BMP7 BMP8B

Sources for Tritanopia

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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