MCID: OLG014
MIFTS: 25

Oligocone Trichromacy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

MalaCards integrated aliases for Oligocone Trichromacy:

Name: Oligocone Trichromacy 58
Trichromacy, Oligocone 39
Oligocone Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
oligocone trichromacy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

Orphanet 58 ORPHA75378
SNOMED-CT via HPO 68 246622003 274524001 409668002

Summaries for Oligocone Trichromacy

MalaCards based summary : Oligocone Trichromacy, also known as trichromacy, oligocone, is related to scotoma and congenital nystagmus. An important gene associated with Oligocone Trichromacy is CNGA3 (Cyclic Nucleotide Gated Channel Subunit Alpha 3), and among its related pathways/superpathways are CREB Pathway and cAMP signaling pathway. Affiliated tissues include eye, and related phenotypes are abnormal electroretinogram and photophobia

Related Diseases for Oligocone Trichromacy

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 scotoma 30.3 CNGB3 CNGA3
2 congenital nystagmus 30.2 CNGB3 CNGA3
3 pathologic nystagmus 29.3 PDE6C GNAT2 CNGB3 CNGA3
4 achromatopsia 29.3 PDE6C GNAT2 CNGB3 CNGA3
5 joint laxity, short stature, and myopia 10.5
6 myopia 10.5
7 color vision deficiency 10.5
8 retinitis pigmentosa 44 9.8 CNGB3 CNGA3
9 choroid disease 9.7 CNGB3 CNGA3
10 choroideremia 9.6 CNGB3 CNGA3
11 cone dystrophy 9.4 PDE6C CNGB3 CNGA3
12 retinal disease 9.4 CNGB3 CNGA3
13 cone-rod dystrophy 8 9.3 GNAT2 CNGB3 CNGA3
14 prolonged electroretinal response suppression 9.2 GNAT2 CNGB3 CNGA3
15 enhanced s-cone syndrome 9.2 GNAT2 CNGB3 CNGA3
16 retinoschisis 1, x-linked, juvenile 9.2 GNAT2 CNGB3 CNGA3
17 leber congenital amaurosis 1 9.2 GNAT2 CNGB3 CNGA3
18 stargardt disease 9.2 GNAT2 CNGB3 CNGA3
19 eye degenerative disease 9.2 GNAT2 CNGB3 CNGA3
20 macular degeneration, age-related, 1 9.0 GNAT2 CNGB3 CNGA3
21 cone-rod dystrophy 2 8.9 GNAT2 CNGB3 CNGA3
22 achromatopsia 7 8.9 PDE6C GNAT2 CNGB3 CNGA3
23 red-green color blindness 8.9 PDE6C GNAT2 CNGB3 CNGA3
24 color blindness 8.9 PDE6C GNAT2 CNGB3 CNGA3
25 achromatopsia 2 8.9 PDE6C GNAT2 CNGB3 CNGA3
26 colorblindness, partial, protan series 8.9 PDE6C GNAT2 CNGB3 CNGA3
27 achromatopsia 3 8.9 PDE6C GNAT2 CNGB3 CNGA3
28 achromatopsia 4 8.9 PDE6C GNAT2 CNGB3 CNGA3
29 jalili syndrome 8.9 PDE6C GNAT2 CNGB3 CNGA3
30 blue cone monochromacy 8.9 PDE6C GNAT2 CNGB3 CNGA3
31 cone-rod dystrophy 6 8.9 PDE6C GNAT2 CNGB3 CNGA3
32 congenital stationary night blindness 8.9 PDE6C GNAT2 CNGB3 CNGA3
33 leber plus disease 8.8 PDE6C GNAT2 CNGB3 CNGA3
34 fundus dystrophy 8.8 PDE6C GNAT2 CNGB3 CNGA3
35 retinitis pigmentosa 8.8 PDE6C GNAT2 CNGB3 CNGA3

Graphical network of the top 20 diseases related to Oligocone Trichromacy:



Diseases related to Oligocone Trichromacy

Symptoms & Phenotypes for Oligocone Trichromacy

Human phenotypes related to Oligocone Trichromacy:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
2 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 CNGA3 CNGB3 GNAT2 PDE6C
2 vision/eye MP:0005391 8.92 CNGA3 CNGB3 GNAT2 PDE6C

Drugs & Therapeutics for Oligocone Trichromacy

Search Clinical Trials , NIH Clinical Center for Oligocone Trichromacy

Genetic Tests for Oligocone Trichromacy

Anatomical Context for Oligocone Trichromacy

MalaCards organs/tissues related to Oligocone Trichromacy:

40
Eye

Publications for Oligocone Trichromacy

Articles related to Oligocone Trichromacy:

(show all 12)
# Title Authors PMID Year
1
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. 61
28829391 2017
2
The cone dysfunction syndromes. 61
25770143 2016
3
Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia). 61
26343007 2015
4
Long-term follow-up of two patients with oligocone trichromacy. 61
26138751 2015
5
Integrity of the cone photoreceptor mosaic in oligocone trichromacy. 61
21436275 2011
6
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. 61
21268679 2011
7
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). 61
19818506 2010
8
Oligocone trichromacy: clinical and molecular genetic investigations. 61
19797231 2010
9
Defective vision due to oligocone trichromacy in a young adult. 61
17090894 2006
10
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. 61
15557429 2004
11
Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. 61
15031164 2004
12
The cone dysfunction syndromes. 61
14736794 2004

Variations for Oligocone Trichromacy

Expression for Oligocone Trichromacy

Search GEO for disease gene expression data for Oligocone Trichromacy.

Pathways for Oligocone Trichromacy

Pathways related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.42 GNAT2 CNGB3 CNGA3
2 11.59 CNGB3 CNGA3
3
Show member pathways
11.12 PDE6C GNAT2 CNGB3 CNGA3
4 11.1 GNAT2 CNGB3 CNGA3

GO Terms for Oligocone Trichromacy

Cellular components related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 GNAT2 CNGB3
2 transmembrane transporter complex GO:1902495 8.62 CNGB3 CNGA3

Biological processes related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.56 PDE6C GNAT2 CNGB3 CNGA3
2 cation transport GO:0006812 9.32 CNGB3 CNGA3
3 response to stimulus GO:0050896 9.26 PDE6C GNAT2 CNGB3 CNGA3
4 retinal cone cell development GO:0046549 9.16 PDE6C GNAT2
5 visual perception GO:0007601 8.92 PDE6C GNAT2 CNGB3 CNGA3

Molecular functions related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.56 PDE6C GNAT2 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
4 cGMP binding GO:0030553 8.8 PDE6C CNGB3 CNGA3

Sources for Oligocone Trichromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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