MCID: OLG014
MIFTS: 20

Oligocone Trichromacy malady

Eye diseases category

Summaries for Oligocone Trichromacy

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32MalaCards
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MalaCards: Oligocone Trichromacy, also known as oligocone syndrome, is related to cone-rod dystrophy 2 and color blindness, and has symptoms including abnormal erg/electroretinogram/electroretinography, autosomal recessive inheritance and photophobia. 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 Potassium transporters: inward current and Sweet Taste Signaling. Affiliated tissues include eye, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Oligocone Trichromacy

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48Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
oligocone trichromacy:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Normal


Aliases & Descriptions:

oligocone trichromacy 48
oligocone syndrome 48


Related Diseases for Oligocone Trichromacy

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17GeneCards, 18GeneDecks
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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
5achromatopsia10.0GNAT2, PDE6C, CNGA3, CNGB3

Graphical network of diseases related to Oligocone Trichromacy:



Diseases related to oligocone trichromacy

Clinical Features for Oligocone Trichromacy

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48Orphanet
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Symptoms:

48
  • abnormal erg/electroretinogram/electroretinography
  • autosomal recessive inheritance
  • photophobia

Drugs & Therapeutics for Oligocone Trichromacy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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

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Anatomical Context for Oligocone Trichromacy

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32MalaCards
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MalaCards organs/tissues related to Oligocone Trichromacy:

32
Eye

Animal Models for Oligocone Trichromacy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Oligocone Trichromacy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.0CNGB3, CNGA3, PDE6C, GNAT2
2MP:00053917.7CNGB3, CNGA3, PDE6C, GNAT2

Publications for Oligocone Trichromacy

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Genetic Variations for Oligocone Trichromacy

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Expression for genes affiliated with Oligocone Trichromacy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Oligocone Trichromacy

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GO Terms for genes affiliated with Oligocone Trichromacy

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16Gene Ontology
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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:0068109.3CNGA3, CNGB3
2potassium ion transmembrane transportGO:0718059.2CNGB3, CNGA3
3regulation of membrane potentialGO:0423919.0CNGA3, CNGB3
4retinal cone cell developmentGO:0465498.6CNGA3, PDE6C, GNAT2
5phototransduction, visible lightGO:0076038.5CNGB3, CNGA3, PDE6C
6visual perceptionGO:0076018.1GNAT2, PDE6C, CNGA3, CNGB3

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Oligocone Trichromacy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet