MCID: ACH034
MIFTS: 28

Achromatopsia-2 malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia-2

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Aliases & Descriptions for Achromatopsia-2:

Name: Achromatopsia-2 49 11
Achromatopsia 2 45 22 67 24 65
Rod Monochromatism 2 45 22 67
Rod Monochromacy 2 45 67
Achm2 45 67
 
Rmch2 45 67
Complete Achromatopsia 67
Colorblindness, Total 45
Total Colorblindness 67
Achromatopsia 65

Characteristics:

HPO:

61
achromatopsia-2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 216900
MedGen34 C1857618
MeSH36 D003117
UMLS65 C1857618

Summaries for Achromatopsia-2

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OMIM:49 Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal... (216900) more...

MalaCards based summary: Achromatopsia-2, also known as achromatopsia 2, is related to achromatopsia-3 and achromatopsia, and has symptoms including hemeralopia, achromatopsia and nystagmus. An important gene associated with Achromatopsia-2 is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3). Affiliated tissues include eye and retina.

NIH Rare Diseases:45 Achromatopsia 2 is a condition that affects the color vision. most people have complete achromatopsia which is characterized by a total absence of color vision (only able to see black, white and shades of gray). rarely, affected people may have incomplete achromatopsia which is associated with some color discrimination. other common signs and symptoms include reduced visual acuity, involuntary back-and-forth eye movements, increased sensitivity to light (photophobia), and hyperopia (farsightedness). achromatopsia 2 is caused by changes (mutations) in the cnga3 gene and is inherited in an autosomal recessive manner. although color discrimination cannot be improved, treatments are available to address some of the other associated symptoms. last updated: 2/19/2016

UniProtKB/Swiss-Prot:67 Achromatopsia 2: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

Related Diseases for Achromatopsia-2

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Diseases in the Achromatopsia family:

Achromatopsia-4 Achromatopsia 7
achromatopsia-2 Achromatopsia-3
Achromatopsia 5

Diseases related to Achromatopsia-2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1achromatopsia-312.0
2achromatopsia11.4
3achromatopsia-410.6
4achromatopsia 710.4

Symptoms for Achromatopsia-2

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Symptoms by clinical synopsis from OMIM:

216900

Clinical features from OMIM:

216900

HPO human phenotypes related to Achromatopsia-2:

id Description Frequency HPO Source Accession
1 hemeralopia HP:0012047
2 achromatopsia HP:0011516
3 nystagmus HP:0000639
4 blindness HP:0000618
5 photophobia HP:0000613

Drugs & Therapeutics for Achromatopsia-2

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Interventional clinical trials:

Search ClinicalTrials, 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 222 CNGA3

Anatomical Context for Achromatopsia-2

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MalaCards organs/tissues related to Achromatopsia-2:

33
Eye, Retina

Animal Models for Achromatopsia-2 or affiliated genes

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Publications for Achromatopsia-2

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Variations for Achromatopsia-2

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

67 (show all 54)
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
54CNGA3p.Ala323AspVAR_075493

Clinvar genetic disease variations for Achromatopsia-2:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1CNGA3NM_001298.2(CNGA3): c.101+1G> Asingle nucleotide variantLikely pathogenicrs147118493GRCh37Chr 2, 98986540: 98986540
2CNGA3NM_001298.2(CNGA3): c.488C> T (p.Pro163Leu)single nucleotide variantPathogenicrs104893612GRCh37Chr 2, 99006159: 99006159
3CNGA3NM_001298.2(CNGA3): c.847C> T (p.Arg283Trp)single nucleotide variantPathogenicrs104893613GRCh37Chr 2, 99012480: 99012480
4CNGA3NM_001298.2(CNGA3): c.848G> A (p.Arg283Gln)single nucleotide variantPathogenicrs104893614GRCh37Chr 2, 99012481: 99012481
5CNGA3NM_001298.2(CNGA3): c.1669G> A (p.Gly557Arg)single nucleotide variantPathogenicrs104893615GRCh37Chr 2, 99013302: 99013302
6CNGA3NM_001298.2(CNGA3): c.872C> G (p.Thr291Arg)single nucleotide variantPathogenicrs104893616GRCh37Chr 2, 99012505: 99012505
7CNGA3NM_001298.2(CNGA3): c.1641C> A (p.Phe547Leu)single nucleotide variantPathogenicrs104893617GRCh37Chr 2, 99013274: 99013274
8CNGA3NM_001298.2(CNGA3): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs137852608GRCh37Chr 2, 99012861: 99012861
9CNGA3NM_001298.2(CNGA3): c.1585G> A (p.Val529Met)single nucleotide variantPathogenicrs104893619GRCh37Chr 2, 99013218: 99013218
10CNGA3NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys)single nucleotide variantPathogenicrs104893620GRCh37Chr 2, 99012462: 99012462
11CNGA3NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp)single nucleotide variantPathogenicrs104893621GRCh37Chr 2, 99012939: 99012939

Expression for genes affiliated with Achromatopsia-2

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Search GEO for disease gene expression data for Achromatopsia-2.

Pathways for genes affiliated with Achromatopsia-2

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GO Terms for genes affiliated with Achromatopsia-2

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Sources for Achromatopsia-2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet