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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MalaCards based summary: Achromatopsia 2, also known as pingelapese blindness, is related to blue cone monochromacy and color blindness, and has symptoms including 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.

Descriptions 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, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Achromatopsia 2, Aliases & Descriptions:

Name: Achromatopsia 2 42 20 22 62
Pingelapese Blindness 48 62
Total Color Blindness 48 62
Rod Monochromatism 2 42 62
Rod Monochromacy 2 42 62
Rod Monochromatism 48 62
Rod Monochromacy 48 62
 
Achromatopsia 48 62
Achm2 42 62
Rmch2 42 62
Complete or Incomplete Color Blindness 48
Colorblindness, Total 42
Achromatopsia-2 46
Achm 48


Classifications:

Orphanet: 48 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

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


External Ids:

ICD10 via Orphanet26 H53.5
UMLS via Orphanet63 C0152200

Related Diseases for Achromatopsia 2

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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 monochromacy30.5CNGB3, CNGA3
2color blindness30.1CNGB3, CNGA3, PDE6H
3cone-rod dystrophy 229.6RPGR, GNAT2
4congenital nystagmus29.5GNAT2, CNGB3, CNGA3
5achromatopsia29.1PDE6H, PDE6C, CNGA3, CNGB3, GNAT2
6cerebritis10.6
7retinitis10.4
8achromatopsia 310.4
9blue cone monochromatism10.3
10achromatopsia 410.3
11night blindness10.3
12achromatopsia 610.3
13amblyopia10.3
14achromatopsia 510.3
15blindness10.3
16albinism10.2
17vitelliform macular dystrophy10.1
18cone dystrophy10.1
19color agnosia10.1
20retinal cone dystrophy 210.1CNGA3, RPGR
21fundus dystrophy10.1CNGA3, RPGR
22alzheimer's disease10.0
23cone-rod dystrophy10.0
24vertebrobasilar insufficiency10.0
25cortical blindness10.0
26prosopagnosia10.0
27anosognosia10.0
28agnosia10.0
29migraine10.0
30refractive error10.0
31opa3-related 3-methylglutaconic aciduria10.0
32behr syndrome10.0
33cone-rod dystrophy amelogenesis imperfecta10.0
34nystagmus 1, congenital, x- linked10.0
35retinohepatoendocrinologic syndrome10.0
36spondylometaphyseal dysplasia with cone-rod dystrophy10.0
37hypogonadotropic hypogonadism 9 with or without anosmia10.0
38macular dystrophy10.0
39thalassemia, hispanic gamma-delta-beta10.0
40foveal hypoplasia 110.0
41foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.0
42brown-vialetto-van laere syndrome 110.0

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



Diseases related to achromatopsia 2

Symptoms for Achromatopsia 2

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Symptoms by clinical synopsis from OMIM:

216900

Clinical features from OMIM:

216900,262300,610024,613093,613856

HPO human phenotypes related to Achromatopsia 2:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 photophobia HP:0000613
3 blindness HP:0000618
4 nystagmus HP:0000639
5 rod monochromacy HP:0011516

Drugs & Therapeutics for Achromatopsia 2

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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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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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MalaCards organs/tissues related to Achromatopsia 2:

32
Eye

Animal Models for Achromatopsia 2 or affiliated genes

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MGI Mouse Phenotypes related to Achromatopsia 2:

36
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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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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UniProtKB/Swiss-Prot genetic disease variations for Achromatopsia 2:

64 (show all 53)
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
48CNGA3p.Trp171CysVAR_071436
49CNGA3p.Arg223GlnVAR_071438
50CNGA3p.Arg274LysVAR_071442
51CNGA3p.Leu278ProVAR_071443
52CNGA3p.Phe322SerVAR_071444
53CNGA3p.Arg436GlnVAR_071447

Clinvar genetic disease variations for Achromatopsia 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1GNAT2NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter)single nucleotide variantPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_005272.3(GNAT2): c.461+24G> Asingle nucleotide variantPathogenicrs397515384GRCh37Chr 1, 110151229: 110151229
5CNGB3NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe)single nucleotide variantPathogenicrs121918344GRCh37Chr 8, 87644996: 87644996
6CNGB3NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs267606739GRCh37Chr 8, 87680283: 87680283
7CNGB3CNGB3, 1-BP INS, 492TinsertionPathogenic
8CNGB3CNGB3, 8-BP DEL, NT819deletionPathogenic
9PDE6HPDE6H, -29G-C, 5-PRIME UTRsingle nucleotide variantPathogenic
10PDE6CNM_006204.3(PDE6C): c.85C> T (p.Arg29Trp)single nucleotide variantPathogenicrs121918537GRCh37Chr 10, 95372567: 95372567

Expression for genes affiliated with Achromatopsia 2

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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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Compounds for genes affiliated with Achromatopsia 2

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Sources:
61Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Achromatopsia 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1sildenafil citrate619.6PDE6C, PDE6H
2cilostamide61 44 2811.6PDE6C, PDE6H
3(r)-(-)-rolipram619.6PDE6C, PDE6H
4cgmp44 2810.5CNGA3, RPGR
5rolipram44 61 2811.5PDE6H, PDE6C
6ibmx44 61 2811.2PDE6H, PDE6C
7cyclic amp44 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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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
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet