MCID: OLG014
MIFTS: 17

Oligocone Trichromacy malady

Eye category

Summaries for Oligocone Trichromacy

Sources:
33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Oligocone Trichromacy, also known as oligocone syndrome, is related to cone-rod dystrophy 2 and color blindness, and has symptoms including autosomal recessive inheritance, photophobia and abnormal erg/electroretinogram/electroretinography. An important gene associated with Oligocone Trichromacy is GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Potassium transporters: inward current. Related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Oligocone Trichromacy

Sources:
49Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
oligocone trichromacy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

oligocone trichromacy 49
oligocone syndrome 49


Related Diseases for Oligocone Trichromacy

Sources:
17GeneCards, 18GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1cone-rod dystrophy 210.0GNAT2
2color blindness10.0CNGB3, CNGA3
3blue cone monochromacy10.0CNGA3, CNGB3
4congenital nystagmus10.0CNGB3, CNGA3, GNAT2
5achromatopsia10.0CNGB3, CNGA3, PDE6C, GNAT2

Graphical network of diseases related to Oligocone Trichromacy:



Diseases related to oligocone trichromacy

Clinical Features for Oligocone Trichromacy

Sources:
49Orphanet
See all sources


Symptoms:

49
  • autosomal recessive inheritance
  • photophobia
  • abnormal erg/electroretinogram/electroretinography

Drugs & Therapeutics for Oligocone Trichromacy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Oligocone Trichromacy

Drug clinical trials:

Search ClinicalTrials for Oligocone Trichromacy

Search NIH Clinical Center for Oligocone Trichromacy

Search CenterWatch for Oligocone Trichromacy

Genetic Tests for Oligocone Trichromacy

Anatomical Context for Oligocone Trichromacy

Animal Models for Oligocone Trichromacy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Oligocone Trichromacy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0CNGB3, CNGA3, PDE6C, GNAT2
2MP:00053917.7CNGB3, CNGA3, PDE6C, GNAT2

Publications for Oligocone Trichromacy

Sources:
51PubMed
See all sources

Articles related to Oligocone Trichromacy:

idTitleAuthorsYear
1
Integrity of the cone photoreceptor mosaic in oligocone trichromacy. (21436275)
2011
2
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. (21268679)
2011
3
Oligocone trichromacy: clinical and molecular genetic investigations. (19797231)
2010
4
Defective vision due to oligocone trichromacy in a young adult. (17090894)
2006
5
Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. (15031164)
2004

Genetic Variations for Oligocone Trichromacy

Expression for genes affiliated with Oligocone Trichromacy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Oligocone Trichromacy

Search GEO for disease gene expression data for Oligocone Trichromacy.

Pathways for genes affiliated with Oligocone Trichromacy

Sources:
52QIAGEN, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Oligocone Trichromacy

GO Terms for genes affiliated with Oligocone Trichromacy

Sources:
16Gene Ontology
See all sources

Cellular components related to Oligocone Trichromacy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017508.8CNGB3, CNGA3, GNAT2

Biological processes related to Oligocone Trichromacy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transportGO:0068109.3CNGB3, CNGA3
2potassium ion transmembrane transportGO:0718059.2CNGB3, CNGA3
3regulation of membrane potentialGO:0423919.0CNGB3, CNGA3
4retinal cone cell developmentGO:0465498.6CNGA3, PDE6C, GNAT2
5phototransduction, visible lightGO:0076038.5PDE6C, CNGA3, CNGB3
6visual perceptionGO:0076018.1CNGB3, CNGA3, PDE6C, GNAT2

Molecular functions related to Oligocone Trichromacy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activityGO:0052499.3CNGB3, CNGA3
2intracellular cAMP activated cation channel activityGO:0052229.2CNGB3, CNGA3
3intracellular cGMP activated cation channel activityGO:0052239.0CNGB3, CNGA3
4cGMP bindingGO:0305538.5CNGB3, CNGA3, PDE6C

Products for genes affiliated with Oligocone Trichromacy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oligocone Trichromacy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet