MCID: OLG014
MIFTS: 27

Oligocone Trichromacy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

MalaCards integrated aliases for Oligocone Trichromacy:

Name: Oligocone Trichromacy 55
Oligocone Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA75378
SNOMED-CT via HPO 65 274524001 246622003 409668002

Summaries for Oligocone Trichromacy

MalaCards based summary : Oligocone Trichromacy, also known as oligocone syndrome, is related to achromatopsia 2 and retinitis pigmentosa 44, and has symptoms including abnormal electroretinogram and photophobia. An important gene associated with Oligocone Trichromacy is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3), and among its related pathways/superpathways are CREB Pathway and cAMP signaling pathway. Affiliated tissues include eye, and related phenotypes are nervous system and vision/eye

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
2 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy:

43
# 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:

38
Eye

Publications for Oligocone Trichromacy

Articles related to Oligocone Trichromacy:

# Title Authors Year
1
Long-term follow-up of two patients with oligocone trichromacy. ( 26138751 )
2015
2
Integrity of the cone photoreceptor mosaic in oligocone trichromacy. ( 21436275 )
2011
3
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. ( 21268679 )
2011
4
Oligocone trichromacy: clinical and molecular genetic investigations. ( 19797231 )
2010
5
Defective vision due to oligocone trichromacy in a young adult. ( 17090894 )
2006
6
Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. ( 15031164 )
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 9.16 CNGB3 GNAT2
2 photoreceptor outer segment membrane GO:0042622 8.96 CNGA3 GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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 CNGA3 CNGB3 GNAT2 PDE6C
2 regulation of ion transmembrane transport GO:0034765 9.46 CNGA3 CNGB3
3 potassium ion transmembrane transport GO:0071805 9.43 CNGA3 CNGB3
4 regulation of membrane potential GO:0042391 9.4 CNGA3 CNGB3
5 cation transmembrane transport GO:0098655 9.37 CNGA3 CNGB3
6 cation transport GO:0006812 9.32 CNGA3 CNGB3
7 response to stimulus GO:0050896 9.26 CNGA3 CNGB3 GNAT2 PDE6C
8 retinal cone cell development GO:0046549 9.16 GNAT2 PDE6C
9 visual perception GO:0007601 8.92 CNGA3 CNGB3 GNAT2 PDE6C

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.16 CNGA3 CNGB3
2 intracellular cGMP activated cation channel activity GO:0005223 8.96 CNGA3 CNGB3
3 cGMP binding GO:0030553 8.8 CNGA3 CNGB3 PDE6C

Sources for Oligocone Trichromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....