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 54
 
Oligocone Syndrome 54

Characteristics:

Orphanet epidemiological data:

54
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: 54 
Rare eye diseases


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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 celiac disease 8 and inflammatory bowel disease 20, and has symptoms including Array, Array and abnormal electroretinogram. 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 nervous system and vision/eye.

Related Diseases for Oligocone Trichromacy

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Graphical network of diseases related to Oligocone Trichromacy:



Diseases related to oligocone trichromacy

Symptoms & Phenotypes for Oligocone Trichromacy

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Human phenotypes related to Oligocone Trichromacy:

 54 64
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
2 photophobia64 54 Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.7CNGA3, CNGB3, GNAT2, PDE6C
2MP:00053918.0CNGA3, CNGB3, GNAT2, PDE6C

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:

36
Eye

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
Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders. (21268679)
2011
3
Integrity of the cone photoreceptor mosaic in oligocone trichromacy. (21436275)
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 segmentGO:00017509.7CNGB3, GNAT2
2transmembrane transporter complexGO:19024959.4CNGA3, CNGB3
3photoreceptor outer segment membraneGO:00426229.3CNGA3, GNAT2

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:009865510.2CNGA3, CNGB3
2cation transportGO:000681210.2CNGA3, CNGB3
3potassium ion transmembrane transportGO:007180510.2CNGA3, CNGB3
4regulation of ion transmembrane transportGO:003476510.2CNGA3, CNGB3
5regulation of membrane potentialGO:004239110.2CNGA3, CNGB3
6retinal cone cell developmentGO:00465499.8GNAT2, PDE6C
7response to stimulusGO:00508968.7CNGA3, CNGB3, GNAT2, PDE6C
8signal transductionGO:00071658.6CNGA3, CNGB3, GNAT2, PDE6C
9visual perceptionGO:00076018.0CNGA3, CNGB3, GNAT2, PDE6C

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

idNameGO IDScoreTop Affiliating Genes
1intracellular cGMP activated cation channel activityGO:00052239.9CNGA3, CNGB3
2voltage-gated potassium channel activityGO:00052499.4CNGA3, CNGB3
3cGMP bindingGO:00305539.1CNGA3, CNGB3, PDE6C

Sources for Oligocone Trichromacy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet