MCID: OLG014
MIFTS: 24

Oligocone Trichromacy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

MalaCards integrated aliases for Oligocone Trichromacy:

Name: Oligocone Trichromacy 59
Trichromacy, Oligocone 40
Oligocone Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA75378

Summaries for Oligocone Trichromacy

MalaCards based summary : Oligocone Trichromacy, also known as trichromacy, oligocone, is related to pathologic nystagmus and achromatopsia. 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

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:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
2 photophobia 59 32 frequent (33%) Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy:

46
# 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:

41
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. 38
28829391 2017
2
The cone dysfunction syndromes. 38
25770143 2016
3
Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia). 38
26343007 2015
4
Long-term follow-up of two patients with oligocone trichromacy. 38
26138751 2015
5
Integrity of the cone photoreceptor mosaic in oligocone trichromacy. 38
21436275 2011
6
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. 38
21268679 2011
7
Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia). 38
19818506 2010
8
Oligocone trichromacy: clinical and molecular genetic investigations. 38
19797231 2010
9
Defective vision due to oligocone trichromacy in a young adult. 38
17090894 2006
10
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. 38
15557429 2004
11
Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. 38
15031164 2004
12
The cone dysfunction syndromes. 38
14736794 2004

Variations for Oligocone Trichromacy

Expression for Oligocone Trichromacy

Search GEO for disease gene expression data for Oligocone Trichromacy.

Pathways for Oligocone Trichromacy

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 intracellular cAMP-activated cation channel activity GO:0005222 9.16 CNGB3 CNGA3
2 intracellular cGMP-activated cation channel activity GO:0005223 8.96 CNGB3 CNGA3
3 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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