MCID: ACH034
MIFTS: 28

Achromatopsia-2 malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia-2

About this section

Aliases & Descriptions for Achromatopsia-2:

Name: Achromatopsia-2 50 12
Achromatopsia 2 46 23 68 25 66
Rod Monochromatism 2 46 23 68
Rod Monochromacy 2 46 68
Achm2 46 68
 
Rmch2 46 68
Complete Achromatopsia 68
Colorblindness, Total 46
Total Colorblindness 68

Characteristics:

HPO:

62
achromatopsia-2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 216900
MedGen35 C1857618
MeSH37 D003117

Summaries for Achromatopsia-2

About this section
OMIM:50 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 photophobia, photophobia and photophobia. An important gene associated with Achromatopsia-2 is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3). Affiliated tissues include retina and eye.

NIH Rare Diseases:46 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:68 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

About this section

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-311.6
2achromatopsia11.3
3achromatopsia-410.2
4achromatopsia 710.0

Symptoms for Achromatopsia-2

About this section

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 photophobia HP:0000613
2 blindness HP:0000618
3 nystagmus HP:0000639
4 achromatopsia HP:0011516
5 hemeralopia HP:0012047

UMLS symptoms related to Achromatopsia-2:


photophobia

Drugs & Therapeutics for Achromatopsia-2

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Achromatopsia-2

Genetic Tests for Achromatopsia-2

About this section

Genetic tests related to Achromatopsia-2:

id Genetic test Affiliating Genes
1 Achromatopsia 225 23 CNGA3

Anatomical Context for Achromatopsia-2

About this section

MalaCards organs/tissues related to Achromatopsia-2:

34
Retina, Eye

Animal Models for Achromatopsia-2 or affiliated genes

About this section

Publications for Achromatopsia-2

About this section

Variations for Achromatopsia-2

About this section

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

68 (show all 54)
id Symbol AA change Variation ID SNP ID
1CNGA3p.Pro163LeuVAR_010903rs104893612
2CNGA3p.Arg283GlnVAR_010904rs104893614
3CNGA3p.Arg283TrpVAR_010905rs104893613
4CNGA3p.Thr291ArgVAR_010906rs104893616
5CNGA3p.Val529MetVAR_010907rs104893619
6CNGA3p.Phe547LeuVAR_010908rs104893617
7CNGA3p.Gly557ArgVAR_010909rs104893615
8CNGA3p.Arg410TrpVAR_010910rs137852608
9CNGA3p.Asp162ValVAR_047566rs747447519
10CNGA3p.Tyr181CysVAR_047567
11CNGA3p.Asn182TyrVAR_047568
12CNGA3p.Leu186PheVAR_047569
13CNGA3p.Cys191TyrVAR_047570rs761554853
14CNGA3p.Glu194LysVAR_047571
15CNGA3p.Arg223TrpVAR_047572rs138958917
16CNGA3p.Thr224ArgVAR_047573
17CNGA3p.Glu228LysVAR_047574rs147415641
18CNGA3p.Phe249SerVAR_047575
19CNGA3p.Asp260AsnVAR_047576rs374258471
20CNGA3p.Tyr263AspVAR_047577
21CNGA3p.Gly267AspVAR_047578
22CNGA3p.Arg277CysVAR_047579rs104893620
23CNGA3p.Arg277HisVAR_047580
24CNGA3p.Ser341ProVAR_047582
25CNGA3p.Thr369SerVAR_047583rs766637612
26CNGA3p.Pro372SerVAR_047584
27CNGA3p.Phe380SerVAR_047585
28CNGA3p.Ser401ProVAR_047586
29CNGA3p.Met406ThrVAR_047587
30CNGA3p.Arg427CysVAR_047588rs141386891
31CNGA3p.Arg436TrpVAR_047589rs104893621
32CNGA3p.Arg439TrpVAR_047590rs749842881
33CNGA3p.Ala469ThrVAR_047591rs117522010
34CNGA3p.Asn471SerVAR_047592rs373954146
35CNGA3p.Asp485ValVAR_047593
36CNGA3p.Cys510SerVAR_047594
37CNGA3p.Gly513GluVAR_047595
38CNGA3p.Gly516GluVAR_047596
39CNGA3p.Ile522ThrVAR_047597
40CNGA3p.Gly525AspVAR_047598
41CNGA3p.Gly548ArgVAR_047599rs781227859
42CNGA3p.Arg563HisVAR_047600rs552069173
43CNGA3p.Thr565MetVAR_047601rs201747279
44CNGA3p.Arg569HisVAR_047602rs201782746
45CNGA3p.Tyr573CysVAR_047603
46CNGA3p.Glu590LysVAR_047604rs763041373
47CNGA3p.Glu593LysVAR_047605rs774676415
48CNGA3p.Trp171CysVAR_071436rs762773298
49CNGA3p.Arg223GlnVAR_071438rs762668060
50CNGA3p.Arg274LysVAR_071442
51CNGA3p.Leu278ProVAR_071443rs763421555
52CNGA3p.Phe322SerVAR_071444
53CNGA3p.Arg436GlnVAR_071447rs767083685
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

About this section
Search GEO for disease gene expression data for Achromatopsia-2.

Pathways for genes affiliated with Achromatopsia-2

About this section

GO Terms for genes affiliated with Achromatopsia-2

About this section

Sources for Achromatopsia-2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet