ACHM2
MCID: ACH034
MIFTS: 39

Achromatopsia-2 (ACHM2) 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 52 12
Achromatopsia 2 11 48 24 70 27 13 68
Rod Monochromatism 2 11 48 24 70
Rod Monochromacy 2 11 48 70
Achm2 11 48 70
Rmch2 11 48 70
 
Complete Achromatopsia 70
Colorblindness, Total 48
Total Colorblindness 70
Color Blindness 68
Achromatopsia 68

Characteristics:

HPO:

64
achromatopsia-2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 216900
Disease Ontology11 DOID:0110007
MedGen37 C1857618
MeSH39 D003117

Summaries for Achromatopsia-2

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OMIM:52 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 other specified visual disturbances, subjective visual disturbance, unspecified and visual disturbance. An important gene associated with Achromatopsia-2 is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3), and among its related pathways are cAMP signaling pathway and Phototransduction. Affiliated tissues include eye and retina, and related mouse phenotypes are taste/olfaction and vision/eye.

Disease Ontology:11 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.

NIH Rare Diseases:48 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:70 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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Graphical network of diseases related to Achromatopsia-2:



Diseases related to achromatopsia-2

Symptoms & Phenotypes for Achromatopsia-2

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Symptoms by clinical synopsis from OMIM:

216900

Clinical features from OMIM:

216900

Human phenotypes related to Achromatopsia-2:

 64
id Description HPO Frequency HPO Source Accession
1 photophobia64 HP:0000613
2 blindness64 HP:0000618
3 nystagmus64 HP:0000639
4 achromatopsia64 HP:0011516
5 hemeralopia64 HP:0012047

UMLS symptoms related to Achromatopsia-2:


other specified visual disturbances, subjective visual disturbance, unspecified, visual disturbance, photophobia

MGI Mouse Phenotypes related to Achromatopsia-2 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.9CNGA3, TRPV1
2MP:00053918.4CNGA3, CNGB3, MFRP, PITPNM1

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 227 24 CNGA3

Anatomical Context for Achromatopsia-2

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MalaCards organs/tissues related to Achromatopsia-2:

36
Eye, Retina

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:

70 (show all 53)
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.Phe249SerVAR_047575
18CNGA3p.Asp260AsnVAR_047576rs374258471
19CNGA3p.Tyr263AspVAR_047577
20CNGA3p.Gly267AspVAR_047578rs781673067
21CNGA3p.Arg277CysVAR_047579rs104893620
22CNGA3p.Arg277HisVAR_047580rs778114016
23CNGA3p.Ser341ProVAR_047582
24CNGA3p.Thr369SerVAR_047583rs766637612
25CNGA3p.Pro372SerVAR_047584
26CNGA3p.Phe380SerVAR_047585
27CNGA3p.Ser401ProVAR_047586
28CNGA3p.Met406ThrVAR_047587
29CNGA3p.Arg427CysVAR_047588rs141386891
30CNGA3p.Arg436TrpVAR_047589rs104893621
31CNGA3p.Arg439TrpVAR_047590rs749842881
32CNGA3p.Ala469ThrVAR_047591rs117522010
33CNGA3p.Asn471SerVAR_047592rs373954146
34CNGA3p.Asp485ValVAR_047593
35CNGA3p.Cys510SerVAR_047594
36CNGA3p.Gly513GluVAR_047595
37CNGA3p.Gly516GluVAR_047596
38CNGA3p.Ile522ThrVAR_047597
39CNGA3p.Gly525AspVAR_047598
40CNGA3p.Gly548ArgVAR_047599rs781227859
41CNGA3p.Arg563HisVAR_047600rs552069173
42CNGA3p.Thr565MetVAR_047601rs201747279
43CNGA3p.Arg569HisVAR_047602rs201782746
44CNGA3p.Tyr573CysVAR_047603
45CNGA3p.Glu590LysVAR_047604rs763041373
46CNGA3p.Glu593LysVAR_047605rs774676415
47CNGA3p.Trp171CysVAR_071436rs762773298
48CNGA3p.Arg223GlnVAR_071438rs762668060
49CNGA3p.Arg274LysVAR_071442
50CNGA3p.Leu278ProVAR_071443rs763421555
51CNGA3p.Phe322SerVAR_071444
52CNGA3p.Arg436GlnVAR_071447rs767083685
53CNGA3p.Ala323AspVAR_075493

Clinvar genetic disease variations for Achromatopsia-2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNGA3NM_ 001298.2(CNGA3): c.101+1G> ASNVPathogenic/ Likely pathogenicrs147118493GRCh37Chr 2, 98986540: 98986540
2CNGA3NM_ 001298.2(CNGA3): c.488C> T (p.Pro163Leu)SNVPathogenicrs104893612GRCh37Chr 2, 99006159: 99006159
3CNGA3NM_ 001298.2(CNGA3): c.847C> T (p.Arg283Trp)SNVPathogenic/ Likely pathogenicrs104893613GRCh37Chr 2, 99012480: 99012480
4CNGA3NM_ 001298.2(CNGA3): c.848G> A (p.Arg283Gln)SNVPathogenicrs104893614GRCh37Chr 2, 99012481: 99012481
5CNGA3NM_ 001298.2(CNGA3): c.872C> G (p.Thr291Arg)SNVPathogenicrs104893616GRCh37Chr 2, 99012505: 99012505
6CNGA3NM_ 001298.2(CNGA3): c.1641C> A (p.Phe547Leu)SNVPathogenic/ Likely pathogenicrs104893617GRCh37Chr 2, 99013274: 99013274
7CNGA3NM_ 001298.2(CNGA3): c.1228C> T (p.Arg410Trp)SNVPathogenicrs137852608GRCh37Chr 2, 99012861: 99012861
8CNGA3NM_ 001298.2(CNGA3): c.1585G> A (p.Val529Met)SNVPathogenicrs104893619GRCh37Chr 2, 99013218: 99013218
9CNGA3NM_ 001298.2(CNGA3): c.829C> T (p.Arg277Cys)SNVPathogenicrs104893620GRCh37Chr 2, 99012462: 99012462
10CNGA3NM_ 001298.2(CNGA3): c.1306C> T (p.Arg436Trp)SNVPathogenicrs104893621GRCh37Chr 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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Cellular components related to Achromatopsia-2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transporter complexGO:19024959.5CNGA3, CNGB3

Biological processes related to Achromatopsia-2 according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:009865510.3CNGA3, CNGB3
2cation transportGO:000681210.3CNGA3, CNGB3
3potassium ion transmembrane transportGO:007180510.2CNGA3, CNGB3
4regulation of ion transmembrane transportGO:003476510.2CNGA3, CNGB3
5regulation of membrane potentialGO:004239110.2CNGA3, CNGB3
6ion transportGO:00068119.4CNGA3, CNGB3, TRPV1
7visual perceptionGO:00076018.9CNGA3, CNGB3, MFRP
8transportGO:00068108.7CNGA3, CNGB3, PITPNM1, TRPV1

Molecular functions related to Achromatopsia-2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cGMP bindingGO:003055310.1CNGA3, CNGB3
2intracellular cGMP activated cation channel activityGO:000522310.1CNGA3, CNGB3
3ion channel activityGO:00052169.8CNGA3, TRPV1
4ligand-gated ion channel activityGO:00152769.8CNGA3, TRPV1
5phosphatidylinositol bindingGO:00350919.6PITPNM1, TRPV1
6voltage-gated potassium channel activityGO:00052499.5CNGA3, CNGB3

Sources for Achromatopsia-2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet