ACHM
MCID: ACH020
MIFTS: 49

Achromatopsia 2 (ACHM) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Achromatopsia 2

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47OMIM, 33MalaCards
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MalaCards: Achromatopsia 2, also known as achromatopsia, is related to blue cone monochromacy and color blindness. An important gene associated with Achromatopsia 2 is CNGA3 (cyclic nucleotide gated channel alpha 3), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Potassium transporters inward current. The compounds sildenafil citrate and cilostamide 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:47 216900,262300,610024,613093,613856

Aliases & Classifications for Achromatopsia 2

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Orphanet: 49 
Rare eye diseases


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 62
achromatopsia 49 62
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 Orphanet59 56852002
UMLS via Orphanet63 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1blue cone monochromacy30.4CNGA3, CNGB3
2color blindness30.3PDE6H, CNGB3, CNGA3
3achromatopsia29.8GNAT2, CNGB3, CNGA3, PDE6C, PDE6H
4cone-rod dystrophy 229.8GNAT2, RPGR
5congenital nystagmus29.8GNAT2, CNGB3, CNGA3
6cerebritis10.5
7achromatopsia 310.3
8blue cone monochromatism10.3
9achromatopsia 410.3
10night blindness10.3
11amblyopia10.2
12achromatopsia 510.2
13achromatopsia 610.2
14blindness10.2
15albinism10.2
16color agnosia10.1
17vitelliform macular dystrophy10.1
18cone dystrophy10.1
19retinitis10.1
20retinal cone dystrophy 210.0RPGR, CNGA3
21fundus dystrophy10.0RPGR, CNGA3
22anosognosia9.9
23alzheimer's disease9.9
24cortical blindness9.9
25prosopagnosia9.9
26vertebrobasilar insufficiency9.9
27agnosia9.9
28migraine9.9
29refractive error9.9
30optic atrophy type 19.9
31behr syndrome9.9
32cone-rod dystrophy amelogenesis imperfecta9.9
33nystagmus 1, congenital, x- linked9.9
34retinohepatoendocrinologic syndrome9.9
35spondylometaphyseal dysplasia with cone-rod dystrophy9.9
36cone dystrophy 39.9
37macular dystrophy9.9
38thalassemia, hispanic gamma-delta-beta9.9
39foveal hypoplasia9.9
40foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis9.9
41hypogonadotropic hypogonadism 8 with or without anosmia9.9
42brown-vialetto-van laere syndrome 19.9

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



Diseases related to achromatopsia 2

Symptoms for Achromatopsia 2

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Sources:
47OMIM
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Symptoms by clinical synopsis from OMIM:

216900

Clinical features from OMIM:

216900,262300,610024,613093,613856

Drugs & Therapeutics for Achromatopsia 2

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Achromatopsia 2

Search NIH Clinical Center for Achromatopsia 2

Genetic Tests for Achromatopsia 2

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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:
33MalaCards
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MalaCards organs/tissues related to Achromatopsia 2:

33
Eye

Animal Models for Achromatopsia 2 or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Achromatopsia 2:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6RPGR, CNGB3, CNGA3, PDE6C, GNAT2
2MP:00053917.3PDE6C, CNGA3, CNGB3, RPGR, GNAT2

Publications for Achromatopsia 2

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Sources:
52PubMed
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Articles related to Achromatopsia 2:

idTitleAuthorsYear
1
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. (15980212)
2005

Variations for Achromatopsia 2

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Sources:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 2:

64 (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:
2BioGPS, 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:
50PathCards, 53QIAGEN, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Achromatopsia 2

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Sources:
61Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Achromatopsia 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sildenafil citrate619.6PDE6C, PDE6H
2cilostamide61 45 2911.6PDE6C, PDE6H
3(r)-(-)-rolipram619.6PDE6C, PDE6H
4cgmp45 2910.5CNGA3, RPGR
5rolipram45 61 2911.5PDE6H, PDE6C
6ibmx45 61 2911.2PDE6H, PDE6C
7cyclic amp45 249.9CNGB3, CNGA3, PDE6H
8Cyclic GMP248.7PDE6H, PDE6C, CNGA3, CNGB3
9Guanosine monophosphate248.4GNAT2, CNGA3, PDE6C, 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 segment membraneGO:0426229.2CNGA3, GNAT2
2photoreceptor outer segmentGO:0017508.2CNGB3, RPGR, GNAT2

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

idNameGO IDScoreTop Affiliating Genes
1regulation of membrane potentialGO:0423919.4CNGA3, CNGB3
2response to stimulusGO:0508969.4PDE6H, RPGR
3potassium ion transmembrane transportGO:0718059.1CNGA3, CNGB3
4phototransduction, visible lightGO:0076038.9CNGB3, CNGA3, PDE6C
5retinal cone cell developmentGO:0465498.8PDE6C, CNGA3, GNAT2
6visual perceptionGO:0076017.2PDE6H, GNAT2, RPGR, CNGB3, CNGA3, PDE6C

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

idNameGO IDScoreTop Affiliating Genes
1intracellular cGMP activated cation channel activityGO:0052239.4CNGA3, CNGB3
2voltage-gated potassium channel activityGO:0052499.4CNGA3, CNGB3
3intracellular cAMP activated cation channel activityGO:0052229.3CNGB3, CNGA3
43,5-cyclic-GMP phosphodiesterase activityGO:0475559.2PDE6H, PDE6C
5cGMP bindingGO:0305538.5PDE6H, PDE6C, CNGA3, CNGB3

Products for genes affiliated with Achromatopsia 2

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Achromatopsia 2

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet