ACHM2
MCID: ACH020
MIFTS: 45

Achromatopsia 2 (ACHM2)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Achromatopsia 2

MalaCards integrated aliases for Achromatopsia 2:

Name: Achromatopsia 2 57 12 53 75 29 6 15 73
Rod Monochromatism 2 57 12 53 75
Rod Monochromacy 2 57 12 53 75
Achm2 57 12 53 75
Rmch2 57 12 53 75
Colorblindness, Total 57 53
Rod Monochromacy 2; Rmch2 57
Complete Achromatopsia 75
Achromatopsia, Type 2 40
Total Colorblindness 75
Color Blindness 73
Achromatopsia-2 13
Achromatopsia 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
achromatopsia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 216900
Disease Ontology 12 DOID:0110007
MedGen 42 C1857618
MeSH 44 D003117

Summaries for Achromatopsia 2

NIH Rare Diseases : 53 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.

MalaCards based summary : Achromatopsia 2, also known as rod monochromatism 2, is related to achromatopsia 3 and achromatopsia 4, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. 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 nystagmus and blindness

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

OMIM : 57 Total colorblindness, also referred to as rod monochromacy or complete achromatopsia, is a rare congenital autosomal recessive disorder characterized by photophobia, reduced visual acuity, nystagmus, and the complete inability to discriminate between colors. Electroretinographic recordings show that in achromatopsia the rod photoreceptor function is normal, whereas cone photoreceptor responses are absent (summary by Kohl et al., 1998). (216900)

UniProtKB/Swiss-Prot : 75 Achromatopsia 2: An autosomal recessive, 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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
day blindness
infantile nystagmus
colors indistinguishable
funduscopy normal
more

Clinical features from OMIM:

216900

Human phenotypes related to Achromatopsia 2:

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 blindness 32 HP:0000618
3 photophobia 32 HP:0000613
4 hemeralopia 32 HP:0012047
5 achromatopsia 32 HP:0011516

UMLS symptoms related to Achromatopsia 2:


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

MGI Mouse Phenotypes related to Achromatopsia 2:

46
# 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:

# Genetic test Affiliating Genes
1 Achromatopsia 2 29 CNGA3

Anatomical Context for Achromatopsia 2

MalaCards organs/tissues related to Achromatopsia 2:

41
Eye, Retina

Publications for Achromatopsia 2

Articles related to Achromatopsia 2:

# Title Authors Year
1
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. ( 15980212 )
2005

Variations for Achromatopsia 2

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

75 (show top 50) (show all 53)
# 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 rs943314733
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 rs122776158
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 rs916035276
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 (show all 36)
# 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.488C> T (p.Pro163Leu) single nucleotide variant Pathogenic rs104893612 GRCh38 Chromosome 2, 98389696: 98389696
3 CNGA3 NM_001298.2(CNGA3): c.847C> T (p.Arg283Trp) single nucleotide variant Likely pathogenic rs104893613 GRCh37 Chromosome 2, 99012480: 99012480
4 CNGA3 NM_001298.2(CNGA3): c.847C> T (p.Arg283Trp) single nucleotide variant Likely pathogenic rs104893613 GRCh38 Chromosome 2, 98396017: 98396017
5 CNGA3 NM_001298.2(CNGA3): c.848G> A (p.Arg283Gln) single nucleotide variant Pathogenic rs104893614 GRCh37 Chromosome 2, 99012481: 99012481
6 CNGA3 NM_001298.2(CNGA3): c.848G> A (p.Arg283Gln) single nucleotide variant Pathogenic rs104893614 GRCh38 Chromosome 2, 98396018: 98396018
7 CNGA3 NM_001298.2(CNGA3): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs104893615 GRCh37 Chromosome 2, 99013302: 99013302
8 CNGA3 NM_001298.2(CNGA3): c.1669G> A (p.Gly557Arg) single nucleotide variant Uncertain significance rs104893615 GRCh38 Chromosome 2, 98396839: 98396839
9 CNGA3 NM_001298.2(CNGA3): c.872C> G (p.Thr291Arg) single nucleotide variant Pathogenic rs104893616 GRCh37 Chromosome 2, 99012505: 99012505
10 CNGA3 NM_001298.2(CNGA3): c.872C> G (p.Thr291Arg) single nucleotide variant Pathogenic rs104893616 GRCh38 Chromosome 2, 98396042: 98396042
11 CNGA3 NM_001298.2(CNGA3): c.1641C> A (p.Phe547Leu) single nucleotide variant Likely pathogenic rs104893617 GRCh37 Chromosome 2, 99013274: 99013274
12 CNGA3 NM_001298.2(CNGA3): c.1641C> A (p.Phe547Leu) single nucleotide variant Likely pathogenic rs104893617 GRCh38 Chromosome 2, 98396811: 98396811
13 CNGA3 NM_001298.2(CNGA3): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic rs137852608 GRCh37 Chromosome 2, 99012861: 99012861
14 CNGA3 NM_001298.2(CNGA3): c.1228C> T (p.Arg410Trp) single nucleotide variant Pathogenic rs137852608 GRCh38 Chromosome 2, 98396398: 98396398
15 CNGA3 NM_001298.2(CNGA3): c.1585G> A (p.Val529Met) single nucleotide variant Pathogenic rs104893619 GRCh37 Chromosome 2, 99013218: 99013218
16 CNGA3 NM_001298.2(CNGA3): c.1585G> A (p.Val529Met) single nucleotide variant Pathogenic rs104893619 GRCh38 Chromosome 2, 98396755: 98396755
17 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
18 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
19 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh37 Chromosome 2, 99012939: 99012939
20 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh38 Chromosome 2, 98396476: 98396476
21 CNGA3 NM_001298.2(CNGA3): c.827A> G (p.Asn276Ser) single nucleotide variant not provided rs199474697 GRCh38 Chromosome 2, 98395997: 98395997
22 CNGA3 NM_001298.2(CNGA3): c.827A> G (p.Asn276Ser) single nucleotide variant not provided rs199474697 GRCh37 Chromosome 2, 99012460: 99012460
23 CNGA3 NM_001298.2(CNGA3): c.101+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs147118493 GRCh37 Chromosome 2, 98986540: 98986540
24 CNGA3 NM_001298.2(CNGA3): c.101+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs147118493 GRCh38 Chromosome 2, 98370077: 98370077
25 CNGA3 NM_001298.2(CNGA3): c.1557G> A (p.Met519Ile) single nucleotide variant Uncertain significance rs199655686 GRCh38 Chromosome 2, 98396727: 98396727
26 CNGA3 NM_001298.2(CNGA3): c.1557G> A (p.Met519Ile) single nucleotide variant Uncertain significance rs199655686 GRCh37 Chromosome 2, 99013190: 99013190
27 CNGA3 NM_001298.2(CNGA3): c.1279C> T (p.Arg427Cys) single nucleotide variant Pathogenic rs141386891 GRCh38 Chromosome 2, 98396449: 98396449
28 CNGA3 NM_001298.2(CNGA3): c.1279C> T (p.Arg427Cys) single nucleotide variant Pathogenic rs141386891 GRCh37 Chromosome 2, 99012912: 99012912
29 CNGA3 NM_001298.2(CNGA3): c.1320delG (p.Trp440Cysfs) deletion Pathogenic GRCh38 Chromosome 2, 98396490: 98396490
30 CNGA3 NM_001298.2(CNGA3): c.1320delG (p.Trp440Cysfs) deletion Pathogenic GRCh37 Chromosome 2, 99012953: 99012953
31 CNGA3 NM_001298.2(CNGA3): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs138958917 GRCh38 Chromosome 2, 98391964: 98391964
32 CNGA3 NM_001298.2(CNGA3): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs138958917 GRCh37 Chromosome 2, 99008427: 99008427
33 CNGA3 NM_001298.2(CNGA3): c.1978C> T (p.Gln660Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 98397148: 98397148
34 CNGA3 NM_001298.2(CNGA3): c.1978C> T (p.Gln660Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 99013611: 99013611
35 CNGA3 NM_001298.2(CNGA3): c.1310_1312delTTAinsAG (p.Val437Glufs) indel Pathogenic GRCh38 Chromosome 2, 98396480: 98396482
36 CNGA3 NM_001298.2(CNGA3): c.1310_1312delTTAinsAG (p.Val437Glufs) indel Pathogenic GRCh37 Chromosome 2, 99012943: 99012945

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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.33 CNGA3 CNGB3 TRPV1
2 cation transport GO:0006812 8.96 CNGA3 CNGB3
3 visual perception GO:0007601 8.8 CNGA3 CNGB3 MFRP

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

# 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 ligand-gated ion channel activity GO:0015276 9.26 CNGA3 TRPV1
4 cGMP binding GO:0030553 9.16 CNGA3 CNGB3
5 intracellular cAMP-activated cation channel activity GO:0005222 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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