ACHM2
MCID: ACH034
MIFTS: 39

Achromatopsia-2 (ACHM2) malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia-2

Aliases & Descriptions for Achromatopsia-2:

Name: Achromatopsia-2 54 13
Achromatopsia 2 12 50 24 66 29 14 69
Rod Monochromatism 2 12 50 24 66
Rod Monochromacy 2 12 50 66
Achm2 12 50 66
Rmch2 12 50 66
Complete Achromatopsia 66
Colorblindness, Total 50
Total Colorblindness 66
Color Blindness 69
Achromatopsia 69

Characteristics:

HPO:

32
achromatopsia-2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 216900
Disease Ontology 12 DOID:0110007
MedGen 40 C1857618
MeSH 42 D003117

Summaries for Achromatopsia-2

OMIM : 54 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, nystagmus and blindness. An important gene associated with Achromatopsia-2 is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3), and among its related pathways/superpathways are cAMP signaling pathway and Phototransduction. Affiliated tissues include eye and retina, and related phenotypes are taste/olfaction and vision/eye

Disease Ontology : 12 An achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.

NIH Rare Diseases : 50 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 : 66 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

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



Diseases related to Achromatopsia-2

Symptoms & Phenotypes for Achromatopsia-2

Symptoms by clinical synopsis from OMIM:

216900

Clinical features from OMIM:

216900

Human phenotypes related to Achromatopsia-2:

32
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 nystagmus 32 HP:0000639
3 blindness 32 HP:0000618
4 achromatopsia 32 HP:0011516
5 hemeralopia 32 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.96 CNGA3 TRPV1
2 vision/eye MP:0005391 8.92 CNGA3 CNGB3 MFRP PITPNM1

Drugs & Therapeutics for Achromatopsia-2

Search Clinical Trials , NIH Clinical Center for Achromatopsia-2

Genetic Tests for Achromatopsia-2

Genetic tests related to Achromatopsia-2:

id Genetic test Affiliating Genes
1 Achromatopsia 2 29 24 CNGA3

Anatomical Context for Achromatopsia-2

MalaCards organs/tissues related to Achromatopsia-2:

39
Eye, Retina

Publications for Achromatopsia-2

Variations for Achromatopsia-2

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

66 (show top 50) (show all 53)
id Symbol AA change Variation ID SNP ID
1 CNGA3 p.Pro163Leu VAR_010903 rs104893612
2 CNGA3 p.Arg283Gln VAR_010904 rs104893614
3 CNGA3 p.Arg283Trp VAR_010905 rs104893613
4 CNGA3 p.Thr291Arg VAR_010906 rs104893616
5 CNGA3 p.Val529Met VAR_010907 rs104893619
6 CNGA3 p.Phe547Leu VAR_010908 rs104893617
7 CNGA3 p.Gly557Arg VAR_010909 rs104893615
8 CNGA3 p.Arg410Trp VAR_010910 rs137852608
9 CNGA3 p.Asp162Val VAR_047566 rs747447519
10 CNGA3 p.Tyr181Cys VAR_047567
11 CNGA3 p.Asn182Tyr VAR_047568
12 CNGA3 p.Leu186Phe VAR_047569
13 CNGA3 p.Cys191Tyr VAR_047570 rs761554853
14 CNGA3 p.Glu194Lys VAR_047571
15 CNGA3 p.Arg223Trp VAR_047572 rs138958917
16 CNGA3 p.Thr224Arg VAR_047573
17 CNGA3 p.Phe249Ser VAR_047575
18 CNGA3 p.Asp260Asn VAR_047576 rs374258471
19 CNGA3 p.Tyr263Asp VAR_047577
20 CNGA3 p.Gly267Asp VAR_047578 rs781673067
21 CNGA3 p.Arg277Cys VAR_047579 rs104893620
22 CNGA3 p.Arg277His VAR_047580 rs778114016
23 CNGA3 p.Ser341Pro VAR_047582
24 CNGA3 p.Thr369Ser VAR_047583 rs766637612
25 CNGA3 p.Pro372Ser VAR_047584
26 CNGA3 p.Phe380Ser VAR_047585
27 CNGA3 p.Ser401Pro VAR_047586
28 CNGA3 p.Met406Thr VAR_047587
29 CNGA3 p.Arg427Cys VAR_047588 rs141386891
30 CNGA3 p.Arg436Trp VAR_047589 rs104893621
31 CNGA3 p.Arg439Trp VAR_047590 rs749842881
32 CNGA3 p.Ala469Thr VAR_047591 rs117522010
33 CNGA3 p.Asn471Ser VAR_047592 rs373954146
34 CNGA3 p.Asp485Val VAR_047593
35 CNGA3 p.Cys510Ser VAR_047594
36 CNGA3 p.Gly513Glu VAR_047595
37 CNGA3 p.Gly516Glu VAR_047596
38 CNGA3 p.Ile522Thr VAR_047597
39 CNGA3 p.Gly525Asp VAR_047598
40 CNGA3 p.Gly548Arg VAR_047599 rs781227859
41 CNGA3 p.Arg563His VAR_047600 rs552069173
42 CNGA3 p.Thr565Met VAR_047601 rs201747279
43 CNGA3 p.Arg569His VAR_047602 rs201782746
44 CNGA3 p.Tyr573Cys VAR_047603
45 CNGA3 p.Glu590Lys VAR_047604 rs763041373
46 CNGA3 p.Glu593Lys VAR_047605 rs774676415
47 CNGA3 p.Trp171Cys VAR_071436 rs762773298
48 CNGA3 p.Arg223Gln VAR_071438 rs762668060
49 CNGA3 p.Arg274Lys VAR_071442
50 CNGA3 p.Leu278Pro VAR_071443 rs763421555

ClinVar genetic disease variations for Achromatopsia-2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CNGA3 NM_001298.2(CNGA3): c.488C> T (p.Pro163Leu) single nucleotide variant Pathogenic rs104893612 GRCh37 Chromosome 2, 99006159: 99006159
2 CNGA3 NM_001298.2(CNGA3): c.847C> T (p.Arg283Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104893613 GRCh37 Chromosome 2, 99012480: 99012480
3 CNGA3 NM_001298.2(CNGA3): c.848G> A (p.Arg283Gln) single nucleotide variant Pathogenic rs104893614 GRCh37 Chromosome 2, 99012481: 99012481
4 CNGA3 NM_001298.2(CNGA3): c.872C> G (p.Thr291Arg) single nucleotide variant Pathogenic rs104893616 GRCh37 Chromosome 2, 99012505: 99012505
5 CNGA3 NM_001298.2(CNGA3): c.1641C> A (p.Phe547Leu) single nucleotide variant Pathogenic/Likely pathogenic rs104893617 GRCh37 Chromosome 2, 99013274: 99013274
6 CNGA3 NM_001298.2(CNGA3): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic rs137852608 GRCh37 Chromosome 2, 99012861: 99012861
7 CNGA3 NM_001298.2(CNGA3): c.1585G> A (p.Val529Met) single nucleotide variant Pathogenic rs104893619 GRCh37 Chromosome 2, 99013218: 99013218
8 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
9 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh37 Chromosome 2, 99012939: 99012939
10 CNGA3 NM_001298.2(CNGA3): c.101+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs147118493 GRCh37 Chromosome 2, 98986540: 98986540

Expression for Achromatopsia-2

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

Pathways for Achromatopsia-2

GO Terms for Achromatopsia-2

Cellular components related to Achromatopsia-2 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transmembrane transporter complex GO:1902495 8.62 CNGA3 CNGB3

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.62 CNGA3 CNGB3 PITPNM1 TRPV1
2 ion transport GO:0006811 9.54 CNGA3 CNGB3 TRPV1
3 regulation of ion transmembrane transport GO:0034765 9.43 CNGA3 CNGB3
4 potassium ion transmembrane transport GO:0071805 9.4 CNGA3 CNGB3
5 regulation of membrane potential GO:0042391 9.26 CNGA3 CNGB3
6 cation transmembrane transport GO:0098655 9.16 CNGA3 CNGB3
7 cation transport GO:0006812 8.96 CNGA3 CNGB3
8 visual perception GO:0007601 8.8 CNGA3 CNGB3 MFRP

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

id Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.37 CNGA3 TRPV1
2 phosphatidylinositol binding GO:0035091 9.32 PITPNM1 TRPV1
3 voltage-gated potassium channel activity GO:0005249 9.26 CNGA3 CNGB3
4 ligand-gated ion channel activity GO:0015276 9.16 CNGA3 TRPV1
5 cGMP binding GO:0030553 8.96 CNGA3 CNGB3
6 intracellular cGMP activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Achromatopsia-2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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