MCID: OLG014
MIFTS: 26

Oligocone Trichromacy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Oligocone Trichromacy

MalaCards integrated aliases for Oligocone Trichromacy:

Name: Oligocone Trichromacy 60
Trichromacy, Oligocone 41
Oligocone Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare eye diseases


External Ids:

Orphanet 60 ORPHA75378
SNOMED-CT via HPO 70 246622003 274524001 409668002

Summaries for Oligocone Trichromacy

MalaCards based summary : Oligocone Trichromacy, also known as trichromacy, oligocone, is related to achromatopsia 2 and retinitis pigmentosa 44. 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 abnormal electroretinogram and photophobia

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
2 photophobia 60 33 frequent (33%) Frequent (79-30%) HP:0000613

MGI Mouse Phenotypes related to Oligocone Trichromacy:

47
# 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:

42
Eye

Publications for Oligocone Trichromacy

Articles related to Oligocone Trichromacy:

# 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:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor outer segment GO:0001750 8.96 CNGB3 GNAT2
2 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.56 CNGA3 CNGB3 GNAT2 PDE6C
2 cation transport GO:0006812 9.32 CNGA3 CNGB3
3 response to stimulus GO:0050896 9.26 CNGA3 CNGB3 GNAT2 PDE6C
4 retinal cone cell development GO:0046549 9.16 GNAT2 PDE6C
5 visual perception GO:0007601 8.92 CNGA3 CNGB3 GNAT2 PDE6C

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

# Name GO ID Score Top Affiliating Genes
1 intracellular cAMP-activated cation channel activity GO:0005222 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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