MCID: OLG014
MIFTS: 27

Oligocone Trichromacy malady

Eye diseases, Rare diseases categories
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Summaries for Oligocone Trichromacy

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MalaCards based summary: Oligocone Trichromacy, also known as oligocone syndrome, is related to color blindness and blue cone monochromacy, 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons and Potassium transporters inward current. The compounds cyclic amp and Cyclic GMP have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are nervous system and vision/eye.

Aliases & Classifications for Oligocone Trichromacy

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Oligocone Trichromacy, Aliases & Descriptions:

Name: Oligocone Trichromacy 48
 
Oligocone Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 48 
Rare 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


Related Diseases for Oligocone Trichromacy

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

idRelated DiseaseScoreTop Affiliating Genes
1color blindness10.0CNGB3, CNGA3
2blue cone monochromacy9.8CNGB3, CNGA3
3congenital nystagmus9.7CNGA3, GNAT2, CNGB3
4achromatopsia9.4GNAT2, CNGB3, CNGA3, PDE6C

Symptoms for Oligocone Trichromacy

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Symptoms:

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

HPO human phenotypes related to Oligocone Trichromacy:

id Description Frequency HPO Source Accession
1 abnormal electroretinogram hallmark (90%) HP:0000512
2 photophobia typical (50%) HP:0000613

Drugs & Therapeutics for Oligocone Trichromacy

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Drug clinical trials:

Search ClinicalTrials for Oligocone Trichromacy

Search NIH Clinical Center for Oligocone Trichromacy

Genetic Tests for Oligocone Trichromacy

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Anatomical Context for Oligocone Trichromacy

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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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MGI Mouse Phenotypes related to Oligocone Trichromacy:

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

Publications for Oligocone Trichromacy

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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

Variations for Oligocone Trichromacy

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Expression for genes affiliated with Oligocone Trichromacy

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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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Compounds for genes affiliated with Oligocone Trichromacy

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Sources:
44Novoseek, 24HMDB
See all sources

Compounds related to Oligocone Trichromacy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cyclic amp44 2410.3CNGA3, CNGB3
2Cyclic GMP248.4PDE6C, CNGA3, CNGB3
3Guanosine monophosphate248.2PDE6C, CNGA3, GNAT2

GO Terms for genes affiliated with Oligocone Trichromacy

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

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017509.4CNGB3, GNAT2
2photoreceptor outer segment membraneGO:0426229.0CNGA3, GNAT2

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

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

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

idNameGO IDScoreTop Affiliating Genes
1voltage-gated potassium channel activityGO:0052499.3CNGA3, CNGB3
2intracellular cGMP activated cation channel activityGO:0052239.2CNGA3, CNGB3
3intracellular cAMP activated cation channel activityGO:0052229.0CNGA3, CNGB3
4cGMP bindingGO:0305538.5PDE6C, CNGA3, CNGB3

Products for genes affiliated with Oligocone Trichromacy

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet