MCID: OLG014
MIFTS: 24

Oligocone Trichromacy malady

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

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Aliases & Descriptions for Oligocone Trichromacy:

Name: Oligocone Trichromacy 52
 
Oligocone Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
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:

Orphanet: 52 
Rare eye diseases


External Ids:

Orphanet52 ORPHA75378

Summaries for Oligocone Trichromacy

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

Related Diseases for Oligocone Trichromacy

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Graphical network of diseases related to Oligocone Trichromacy:



Diseases related to oligocone trichromacy

Symptoms for Oligocone Trichromacy

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Symptoms:

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  • abnormal electroretinogram
  • 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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Interventional clinical trials:

Search ClinicalTrials, 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:

34
Eye

Animal Models for Oligocone Trichromacy or affiliated genes

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MGI Mouse Phenotypes related to Oligocone Trichromacy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.0CNGA3, CNGB3, GNAT2, PDE6C
2MP:00036317.7CNGA3, CNGB3, GNAT2, PDE6C

Publications for Oligocone Trichromacy

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Articles related to Oligocone Trichromacy:

idTitleAuthorsYear
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

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Expression for genes affiliated with Oligocone Trichromacy

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Search GEO for disease gene expression data for Oligocone Trichromacy.

Pathways for genes affiliated with Oligocone Trichromacy

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GO Terms for genes affiliated with Oligocone Trichromacy

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Cellular components related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:00426229.3CNGA3, GNAT2
2photoreceptor outer segmentGO:00017509.2CNGB3, GNAT2
3transmembrane transporter complexGO:19024959.1CNGA3, CNGB3

Biological processes related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transmembrane transportGO:00718059.8CNGA3, CNGB3
2cation transportGO:00068129.8CNGA3, CNGB3
3transportGO:00068109.6CNGA3, CNGB3
4retinal cone cell developmentGO:00465499.6GNAT2, PDE6C
5regulation of membrane potentialGO:00423919.3CNGA3, CNGB3
6visual perceptionGO:00076018.0CNGA3, CNGB3, GNAT2, PDE6C

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

idNameGO IDScoreTop Affiliating Genes
1intracellular cAMP activated cation channel activityGO:00052229.4CNGA3, CNGB3
2intracellular cGMP activated cation channel activityGO:00052239.3CNGA3, CNGB3
3voltage-gated potassium channel activityGO:00052499.1CNGA3, CNGB3
4cGMP bindingGO:00305538.6CNGA3, CNGB3, PDE6C

Sources for Oligocone Trichromacy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet