MCID: OLG014
MIFTS: 24

Oligocone Trichromacy malady

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

Aliases & Descriptions for Oligocone Trichromacy:

Name: Oligocone Trichromacy 56
Oligocone Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
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:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

Orphanet 56 ORPHA75378

Summaries for Oligocone Trichromacy

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 abnormal electroretinogram and photophobia. An important gene associated with Oligocone Trichromacy is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3), and among its related pathways/superpathways are CREB Pathway and cAMP signaling pathway. Affiliated tissues include eye, and related phenotypes are nervous system and vision/eye

Related Diseases for Oligocone Trichromacy

Graphical network of the top 20 diseases related to Oligocone Trichromacy:



Diseases related to Oligocone Trichromacy

Symptoms & Phenotypes for Oligocone Trichromacy

Human phenotypes related to Oligocone Trichromacy:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
2 photophobia 56 32 Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.26 CNGA3 CNGB3 GNAT2 PDE6C
2 vision/eye MP:0005391 8.92 CNGA3 CNGB3 GNAT2 PDE6C

Drugs & Therapeutics for Oligocone Trichromacy

Search Clinical Trials , NIH Clinical Center for Oligocone Trichromacy

Genetic Tests for Oligocone Trichromacy

Anatomical Context for Oligocone Trichromacy

MalaCards organs/tissues related to Oligocone Trichromacy:

39
Eye

Publications for Oligocone Trichromacy

Articles related to Oligocone Trichromacy:

id Title Authors Year
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

Expression for Oligocone Trichromacy

Search GEO for disease gene expression data for Oligocone Trichromacy.

Pathways for Oligocone Trichromacy

GO Terms for Oligocone Trichromacy

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 9.16 CNGB3 GNAT2
2 photoreceptor outer segment membrane GO:0042622 8.96 CNGA3 GNAT2
3 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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

id Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.56 CNGA3 CNGB3 GNAT2 PDE6C
2 regulation of ion transmembrane transport GO:0034765 9.46 CNGA3 CNGB3
3 potassium ion transmembrane transport GO:0071805 9.43 CNGA3 CNGB3
4 regulation of membrane potential GO:0042391 9.4 CNGA3 CNGB3
5 cation transmembrane transport GO:0098655 9.37 CNGA3 CNGB3
6 cation transport GO:0006812 9.32 CNGA3 CNGB3
7 response to stimulus GO:0050896 9.26 CNGA3 CNGB3 GNAT2 PDE6C
8 retinal cone cell development GO:0046549 9.16 GNAT2 PDE6C
9 visual perception GO:0007601 8.92 CNGA3 CNGB3 GNAT2 PDE6C

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

id Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 9.16 CNGA3 CNGB3
2 intracellular cGMP activated cation channel activity GO:0005223 8.96 CNGA3 CNGB3
3 cGMP binding GO:0030553 8.8 CNGA3 CNGB3 PDE6C

Sources for Oligocone Trichromacy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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