MCID: ACH034
MIFTS: 23

Achromatopsia-2 malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Achromatopsia-2

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Aliases & Descriptions for Achromatopsia-2:

Name: Achromatopsia-2 46 9
Achromatopsia 2 46 42 20 22 61
Colorblindness, Total 42
Rod Monochromatism 2 42
 
Rod Monochromacy 2 42
Achm2 42
Rmch2 42


Classifications:



External Ids:

OMIM46 216900

Summaries for Achromatopsia-2

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OMIM:46 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, and has symptoms including autosomal recessive inheritance, photophobia and blindness. An important gene associated with Achromatopsia-2 is CNGA3 (cyclic nucleotide gated channel alpha 3).

Related Diseases for Achromatopsia-2

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Diseases in the Achromatopsia family:

Achromatopsia-4 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
1achromatopsia10.2

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 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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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:

63 (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

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet