ACHM
MCID: ACH020
MIFTS: 49

Achromatopsia 2 (ACHM) malady

Eye diseases category

Summaries for Achromatopsia 2

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46OMIM, 32MalaCards
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MalaCards: Achromatopsia 2, also known as achromatopsia, is related to night blindness and blue cone monochromacy. 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. Affiliated tissues include eye, and related mouse phenotypes are nervous system and vision/eye.

Description from OMIM:46 216900,262300,610024,613093,613856

Aliases & Classifications for Achromatopsia 2

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

achromatopsia 2 42 20 22 60
achromatopsia 48 60
complete or incomplete color blindness 48
colorblindness, total 42
pingelapese blindness 48
total color blindness 48
rod monochromatism 2 42
rod monochromatism 48
rod monochromacy 2 42
rod monochromacy 48
achromatopsia-2 46
rmch2 42
achm2 42
achm 48


External Ids:

ICD10 via Orphanet26 H53.5
SNOMED-CT via Orphanet57 56852002
UMLS via Orphanet61 C0152200

Related Diseases for Achromatopsia 2

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Achromatopsia 2 family:

Achromatopsia Achromatopsia 3
Achromatopsia 4 Achromatopsia 5
Achromatopsia 6

Diseases related to Achromatopsia 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1night blindness30.4RPGR
2blue cone monochromacy30.3CNGB3, CNGA3
3color blindness30.2CNGB3, CNGA3, PDE6H
4achromatopsia30.0CNGA3, CNGB3, GNAT2, PDE6H, PDE6C
5cone-rod dystrophy 229.8GNAT2, RPGR
6congenital nystagmus29.8GNAT2, CNGA3, CNGB3
7cerebritis10.5
8achromatopsia 310.3
9achromatopsia 410.3
10cone dystrophy10.2
11amblyopia10.2
12achromatopsia 510.2
13achromatopsia 610.2
14albinism10.1
15color agnosia10.1
16retinitis10.1
17blue cone monochromatism10.1
18blindness10.0RPGR
19retinal degeneration10.0RPGR
20usher syndrome10.0RPGR
21myopia 610.0RPGR
22leber congenital amaurosis10.0RPGR
23retinal cone dystrophy 210.0CNGA3, RPGR
24fundus dystrophy10.0CNGA3, RPGR
25retinal disease10.0RPGR, CNGA3
26vertebrobasilar insufficiency9.9
27prosopagnosia9.9
28anosognosia9.9
29alzheimer's disease9.9
30cortical blindness9.9
31agnosia9.9
32migraine9.9
33refractive error9.9
34visual agnosia9.9
35optic atrophy type 19.9
36behr syndrome9.9
37cone-rod dystrophy amelogenesis imperfecta9.9
38nystagmus 1, congenital, x- linked9.9
39retinohepatoendocrinologic syndrome9.9
40spondylometaphyseal dysplasia with cone-rod dystrophy9.9
41cone dystrophy 39.9
42thalassemia, hispanic gamma-delta-beta9.9
43foveal hyperplasia9.9
44hypogonadotropic hypogonadism 8 with or without anosmia9.9
45brown-vialetto-van laere syndrome 19.9

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



Diseases related to achromatopsia 2

Clinical Features for Achromatopsia 2

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Sources:
46OMIM
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Clinical features from OMIM:

216900,262300,610024,613093,613856

Clinical synopsis from OMIM:

216900

Drugs & Therapeutics for Achromatopsia 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Achromatopsia 2:

id Genetic test Affiliating Genes
1 Achromatopsia 220 22 CNGA3

Anatomical Context for Achromatopsia 2

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Sources:
32MalaCards
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MalaCards organs/tissues related to Achromatopsia 2:

32
Eye

Animal Models for Achromatopsia 2 or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Achromatopsia 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.7GNAT2, PDE6C, CNGA3, CNGB3, RPGR
2MP:00053917.4CNGB3, CNGA3, PDE6C, GNAT2, RPGR

Publications for Achromatopsia 2

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Genetic Variations for Achromatopsia 2

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Achromatopsia 2:

62 (show all 47)
id Symbol AA change Variation ID 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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Achromatopsia 2

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Achromatopsia 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cgmp44 2810.5CNGA3, RPGR
2(r)-(-)-rolipram599.5PDE6C, PDE6H
3cilostamide59 44 2811.4PDE6C, PDE6H
4sildenafil citrate599.4PDE6C, PDE6H
5rolipram44 59 2811.3PDE6H, PDE6C
6ibmx44 28 5911.0PDE6C, PDE6H
7cyclic amp44 249.9CNGB3, CNGA3, PDE6H

GO Terms for genes affiliated with Achromatopsia 2

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Sources:
16Gene Ontology
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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 cAMP activated cation channel activityGO:0052229.6CNGB3, CNGA3
2voltage-gated potassium channel activityGO:0052499.6CNGA3, CNGB3
3intracellular cGMP activated cation channel activityGO:0052239.5CNGA3, CNGB3
43,5-cyclic-GMP phosphodiesterase activityGO:0475559.0PDE6C, PDE6H
5cGMP bindingGO:0305538.5CNGB3, PDE6H, PDE6C, CNGA3

Products for genes affiliated with Achromatopsia 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achromatopsia 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet