MCID: OLG014
MIFTS: 27

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 51
 
Oligocone Syndrome 51

Characteristics:

Orphanet epidemiological data:

51
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: 51 
Rare eye diseases


External Ids:

Orphanet51 75378

Summaries for Oligocone Trichromacy

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MalaCards based summary: Oligocone Trichromacy, also known as oligocone syndrome, is related to systolic heart failure and colorblindness, deutan, and has symptoms including abnormal electroretinogram, photophobia and abnormal erg/electroretinogram/electroretinography. 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, heart and smooth muscle, 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 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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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:

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Eye, Heart, Smooth muscle, Testis, Pituitary

Animal Models for Oligocone Trichromacy or affiliated genes

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MGI Mouse Phenotypes related to Oligocone Trichromacy:

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idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.4CNGA3, CNGB3, GNAT2, PDE6C
2MP:00036318.3CNGA3, 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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Biological processes related to Oligocone Trichromacy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:00986559.6CNGA3, CNGB3
2regulation of membrane potentialGO:00423919.6CNGA3, CNGB3
3signal transductionGO:00071658.0CNGA3, CNGB3, GNAT2, PDE6C

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

idNameGO IDScoreTop Affiliating Genes
1cGMP bindingGO:00305539.4CNGA3, CNGB3

Sources for Oligocone Trichromacy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet