ACHM
MCID: ACH020
MIFTS: 38

Achromatopsia 2 (ACHM) malady

Eye category

Summaries for Achromatopsia 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Achromatopsia 2, also known as achromatopsia, is related to blue cone monochromacy and blindness. An important gene associated with Achromatopsia 2 is CNGA3 (cyclic nucleotide gated channel alpha 3), and among its related pathways are Potassium transporters: inward current and CREB Pathway. The compounds cgmp and (r)-(-)-rolipram have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:47 216900,262300,610024,613093,613856

Aliases & Classifications for Achromatopsia 2

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye


Characteristics (Orphanet epidemiological data):

49
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

achromatopsia 2 43 20 22 61
achromatopsia 49 61
complete or incomplete color blindness 49
colorblindness, total 43
pingelapese blindness 49
total color blindness 49
rod monochromatism 2 43
rod monochromatism 49
rod monochromacy 2 43
rod monochromacy 49
achromatopsia-2 47
rmch2 43
achm2 43
achm 49


External Ids:

ICD10 via Orphanet26 H53.5
SNOMED-CT via Orphanet58 56852002
UMLS via Orphanet62 C0152200

Related Diseases for Achromatopsia 2

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Achromatopsia 2:



Diseases related to achromatopsia 2

Clinical Features for Achromatopsia 2

Sources:
47OMIM
See all sources

Clinical features from OMIM:

216900,262300,610024,613093,613856

Clinical synopsis from OMIM:

216900

Drugs & Therapeutics for Achromatopsia 2

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Achromatopsia 2

Drug clinical trials:

Search ClinicalTrials for Achromatopsia 2

Search NIH Clinical Center for Achromatopsia 2

Search CenterWatch for Achromatopsia 2

Genetic Tests for Achromatopsia 2

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Achromatopsia 2:

id Genetic test Affiliating Genes
1 Achromatopsia 220 22 CNGA3

Anatomical Context for Achromatopsia 2

Animal Models for Achromatopsia 2 or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Achromatopsia 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7GNAT2, PDE6C, CNGA3, CNGB3, RPGR
2MP:00053917.4CNGB3, CNGA3, PDE6C, GNAT2, RPGR

Publications for Achromatopsia 2

Sources:
51PubMed
See all sources

Articles related to Achromatopsia 2:

idTitleAuthorsYear
1
Clinical utility gene card for: Achromatopsia - update 2013. (23486539)
2013

Genetic Variations for Achromatopsia 2

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Achromatopsia 2:

63 (show all 47)
id Symbol AA change Variation SNP ID
1CNGA3p.Pro163LeuVAR_010903
2CNGA3p.Arg283GlnVAR_010904
3CNGA3p.Arg283TrpVAR_010905
4CNGA3p.Thr291ArgVAR_010906
5CNGA3p.Val529MetVAR_010907
6CNGA3p.Phe547LeuVAR_010908
7CNGA3p.Gly557ArgVAR_010909
8CNGA3p.Arg410TrpVAR_010910
9CNGA3p.Asp162ValVAR_047566
10CNGA3p.Tyr181CysVAR_047567
11CNGA3p.Asn182TyrVAR_047568
12CNGA3p.Leu186PheVAR_047569
13CNGA3p.Cys191TyrVAR_047570
14CNGA3p.Glu194LysVAR_047571
15CNGA3p.Arg223TrpVAR_047572
16CNGA3p.Thr224ArgVAR_047573
17CNGA3p.Glu228LysVAR_047574rs147415641
18CNGA3p.Phe249SerVAR_047575
19CNGA3p.Asp260AsnVAR_047576
20CNGA3p.Tyr263AspVAR_047577
21CNGA3p.Gly267AspVAR_047578
22CNGA3p.Arg277CysVAR_047579
23CNGA3p.Arg277HisVAR_047580
24CNGA3p.Ser341ProVAR_047582
25CNGA3p.Thr369SerVAR_047583
26CNGA3p.Pro372SerVAR_047584
27CNGA3p.Phe380SerVAR_047585
28CNGA3p.Ser401ProVAR_047586
29CNGA3p.Met406ThrVAR_047587
30CNGA3p.Arg427CysVAR_047588rs141386891
31CNGA3p.Arg436TrpVAR_047589
32CNGA3p.Arg439TrpVAR_047590
33CNGA3p.Ala469ThrVAR_047591rs117522010
34CNGA3p.Asn471SerVAR_047592
35CNGA3p.Asp485ValVAR_047593
36CNGA3p.Cys510SerVAR_047594
37CNGA3p.Gly513GluVAR_047595
38CNGA3p.Gly516GluVAR_047596
39CNGA3p.Ile522ThrVAR_047597
40CNGA3p.Gly525AspVAR_047598
41CNGA3p.Gly548ArgVAR_047599
42CNGA3p.Arg563HisVAR_047600
43CNGA3p.Thr565MetVAR_047601
44CNGA3p.Arg569HisVAR_047602
45CNGA3p.Tyr573CysVAR_047603
46CNGA3p.Glu590LysVAR_047604
47CNGA3p.Glu593LysVAR_047605

Expression for genes affiliated with Achromatopsia 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Achromatopsia 2

Search GEO for disease gene expression data for Achromatopsia 2.

Pathways for genes affiliated with Achromatopsia 2

Sources:
12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Achromatopsia 2

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 24HMDB
See all sources

Compounds related to Achromatopsia 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cgmp45 2910.5CNGA3, RPGR
2(r)-(-)-rolipram609.5PDE6C, PDE6H
3cilostamide60 45 2911.4PDE6C, PDE6H
4sildenafil citrate609.4PDE6C, PDE6H
5rolipram45 60 2911.3PDE6H, PDE6C
6ibmx45 29 6011.0PDE6C, PDE6H
7cyclic amp45 249.9CNGB3, CNGA3, PDE6H

GO Terms for genes affiliated with Achromatopsia 2

Sources:
16Gene Ontology
See all sources

Cellular components related to Achromatopsia 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segmentGO:0017508.3CNGB3, CNGA3, GNAT2, RPGR

Biological processes related to Achromatopsia 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1regulation of membrane potentialGO:0423919.6CNGB3, CNGA3
2potassium ion transmembrane transportGO:0718059.5CNGB3, CNGA3
3phototransduction, visible lightGO:0076039.1PDE6C, CNGA3, CNGB3
4response to stimulusGO:0508969.0PDE6H, RPGR
5retinal cone cell developmentGO:0465498.8CNGA3, PDE6C, GNAT2
6visual perceptionGO:0076017.2CNGB3, RPGR, GNAT2, PDE6H, PDE6C, CNGA3

Molecular functions related to Achromatopsia 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular cGMP activated cation channel activityGO:0052239.6CNGA3, CNGB3
2voltage-gated potassium channel activityGO:0052499.6CNGB3, CNGA3
3intracellular cAMP activated cation channel activityGO:0052229.5CNGA3, CNGB3
43,5-cyclic-GMP phosphodiesterase activityGO:0475559.0PDE6C, PDE6H
5cGMP bindingGO:0305538.5CNGB3, CNGA3, PDE6C, PDE6H

Products for genes affiliated with Achromatopsia 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achromatopsia 2

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet