CBT
MCID: TRT020
MIFTS: 45

Tritanopia (CBT)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Tritanopia

MalaCards integrated aliases for Tritanopia:

Name: Tritanopia 58 12 60 76 30 6 41
Colorblindness, Tritan 58 13
Blue Color Blindness 12 15
Blue Colorblindness 58 76
Cbt 58 76
Colorblindness, Tritan; Cbt 58
Colorblindness, Tritanopic 58
Tritan Colour Blindness 60
Tritan Color Blindness 76
Blue Colour Blindness 60
Congenital Tritanopia 60
Color Blindness, Blue 74
Color Vision Defects 45
Color Vision Defect 74
Color Blindness 74
Tritan Defect 12

Characteristics:

Orphanet epidemiological data:

60
tritanopia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant (7q31.3-q32)


HPO:

33
tritanopia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:11661
OMIM 58 190900
ICD9CM 36 368.53
MeSH 45 D003117
SNOMED-CT 69 51886007 85049009
ICD10 34 H53.55
ICD10 via Orphanet 35 H53.5
UMLS via Orphanet 75 C0155017
Orphanet 60 ORPHA88629
MedGen 43 C0155017
SNOMED-CT via HPO 70 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 3-methylglutaconic aciduria, type iii and acute retrobulbar neuritis, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. An important gene associated with Tritanopia is OPN1SW (Opsin 1, Short Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Opsins. Affiliated tissues include eye, retina and ovary, and related phenotypes are dyschromatopsia and tritanomaly

OMIM : 58 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 : 76 Tritan color blindness: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity.

Wikipedia : 77 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 101)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 29.9 MT-ND4 OPA1 SNCA
2 acute retrobulbar neuritis 29.8 MT-ND4 RHO
3 optic nerve disease 29.5 MT-ND4 OPA1 PDE5A
4 color blindness 12.0
5 misophonia 11.2
6 color vision deficiency 11.2
7 aland island eye disease 11.2
8 colorblindness, partial, deutan series 11.2
9 colorblindness, partial, protan series 11.2
10 paragangliomas 1 11.1
11 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 11.0
12 cone-rod dystrophy, x-linked, 3 11.0
13 mohr-tranebjaerg syndrome 11.0
14 optic atrophy 5 11.0
15 cone dystrophy 4 11.0
16 cone-rod dystrophy 16 11.0
17 bestrophinopathy 11.0
18 anxiety 10.8
19 depression 10.6
20 panic disorder 10.6
21 obsessive-compulsive disorder 10.5
22 eating disorder 10.4
23 agoraphobia 10.4
24 chronic fatigue syndrome 10.3
25 bulimia nervosa 10.3
26 generalized anxiety disorder 10.3
27 social phobia 10.3
28 autism spectrum disorder 10.2
29 disease of mental health 10.2
30 major depressive disorder 10.2
31 mental depression 10.2
32 irritable bowel syndrome 10.2
33 pain - chronic 10.2
34 scotoma 10.1 MT-ND4 OPA1
35 fibromyalgia 10.1
36 spastic paraplegia 7, autosomal recessive 10.1 MT-ND4 OPA1
37 hereditary retinal dystrophy 10.1 GUCY2D RHO
38 blue cone monochromacy 10.1
39 microvascular complications of diabetes 5 10.1
40 diabetes mellitus 10.1
41 schizophrenia 10.1
42 autism 10.1
43 mutism 10.1
44 elective mutism 10.1
45 usher syndrome, type iid 10.0 OPA1 RHO
46 neuritis 10.0
47 anorexia nervosa 10.0
48 hypochondriasis 10.0
49 conduct disorder 10.0
50 dementia 10.0

Graphical network of the top 20 diseases related to Tritanopia:



Diseases related to Tritanopia

Symptoms & Phenotypes for Tritanopia

Human phenotypes related to Tritanopia:

33
# Description HPO Frequency HPO Source Accession
1 dyschromatopsia 33 HP:0007641
2 tritanomaly 33 HP:0000552
3 abnormal light-adapted electroretinogram 33 HP:0008275

Symptoms via clinical synopsis from OMIM:

58
Eyes:
tritanopia
defective blue and yellow vision
normal red and green vision

Lab:
abnormal blue cone erg

Clinical features from OMIM:

190900

UMLS symptoms related to Tritanopia:


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

MGI Mouse Phenotypes related to Tritanopia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.61 AIF1 BMP7 GUCY2D OFD1 OPA1 OPN1SW
2 vision/eye MP:0005391 9.1 AIF1 BMP7 GUCY2D OPA1 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 30 OPN1SW

Anatomical Context for Tritanopia

MalaCards organs/tissues related to Tritanopia:

42
Eye, Retina, Ovary

Publications for Tritanopia

Articles related to Tritanopia:

(show all 48)
# 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 a third amino acid substitution in the blue-sensitive visual pigment. ( 1386496 )
1992
11
Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. ( 1531728 )
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
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. ( 2937147 )
1986
15
Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy. ( 3876823 )
1985
16
Classical tritanopia. ( 6603508 )
1983
17
Perception of colour in unilateral tritanopia. ( 6603509 )
1983
18
An action spectrum for the production of transient tritanopia. ( 6623936 )
1983
19
Foveal tritanopia. ( 6976039 )
1981
20
Transient tritanopia after flicker adaptation. ( 7292995 )
1981
21
Transient tritanopia: its abolition at high intensities. ( 7292996 )
1981
22
Transient tritanopia: failure of time-intensity reciprocity in adaptation to longwave light. ( 7467138 )
1980
23
Retinal site of transient tritanopia. ( 111147 )
1979
24
Transient tritanopia at the level of the ERG b-wave. ( 121175 )
1979
25
Transient tritanopia experiment in blue cone monochromacy. ( 309557 )
1978
26
Study of foveal tritanopia. ( 308216 )
1978
27
A case of tritanopia. ( 310036 )
1978
28
A comparison between congenital and acquired tritanopia due to diabetic retinopathy. ( 310048 )
1978
29
Retinal blue cone function in a family with inherited tritanopia. ( 310059 )
1978
30
Tritanopia. ( 1085566 )
1976
31
A case of acquired tritanopia. ( 1085885 )
1976
32
Unilateral colour vision defect resembling tritanopia. ( 1085887 )
1976
33
Proceedings: Transient tritanopia: evidence for interaction between colour mechanisms. ( 1249763 )
1976
34
Absence of transient tritanopia after adaptation to very intense yellow light. ( 1250400 )
1976
35
Letter: Autosomal dominant tritanopia. ( 4546850 )
1974
36
Color naming and hue discrimination in congenital tritanopia and tritanomaly. ( 4540298 )
1973
37
Congenital tritanopia without neuroretinal disease. ( 4542649 )
1973
38
Further studies supporting the identity of congenital tritanopia and hereditary dominant optic atrophy. ( 5314165 )
1971
39
Visual discriminations of a subject with acquired unilateral tritanopia. ( 5305253 )
1967
40
Increment thresholds in tritanopia. ( 5305838 )
1967
41
THE INHERITANCE OF CONGENITAL TRITANOPIA WITH THE REPORT OF AN EXTENSIVE PEDIGREE. ( 14128207 )
1964
42
Visual Discriminations of a Subject with Acquired Unilateral Tritanopia. ( 17815777 )
1963
43
Tritanopia and two-colour image synthesis. ( 13751557 )
1960
44
Case of congenital tritanopia with implications for a trichromatic model of color reception. ( 13833283 )
1960
45
The familial distribution of congenital tritanopia, with some remarks on some similar conditions. ( 13249225 )
1955
46
The characteristics of tritanopia. ( 14946611 )
1952
47
Foveal tritanopia. ( 18896654 )
1947
48
Tritanopia and colour vision. ( 21015101 )
1946

Variations for Tritanopia

UniProtKB/Swiss-Prot genetic disease variations for Tritanopia:

76
# 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

Pathways related to Tritanopia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 GUCY2D OPN1SW RHO
2 9.58 OPN1SW RHO

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 8.96 GUCY2D SNCA
2 photoreceptor disc membrane GO:0097381 8.8 GUCY2D OPN1SW RHO

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.8 AIF1 OPA1 SNCA SON
2 response to stimulus GO:0050896 9.78 GUCY2D OPA1 OPN1SW RHO
3 aging GO:0007568 9.61 MT-ND4 OPA1 SNCA
4 phototransduction GO:0007602 9.46 OPN1SW RHO
5 response to electrical stimulus GO:0051602 9.4 AIF1 OPA1
6 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 GUCY2D RHO
7 microglial cell activation GO:0001774 9.32 AIF1 SNCA
8 cellular response to light stimulus GO:0071482 9.26 OPN1SW RHO
9 protein-chromophore linkage GO:0018298 9.16 OPN1SW RHO
10 positive regulation of dendrite development GO:1900006 8.96 BMP7 OPA1
11 visual perception GO:0007601 8.92 GUCY2D OPA1 OPN1SW RHO

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

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor binding GO:0005160 9.32 BMP7 BMP8B
2 alpha-tubulin binding GO:0043014 9.26 OFD1 SNCA
3 G protein-coupled photoreceptor activity GO:0008020 9.16 OPN1SW RHO
4 photoreceptor activity GO:0009881 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 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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