ACHM2
MCID: ACH020
MIFTS: 48

Achromatopsia 2 (ACHM2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Achromatopsia 2

MalaCards integrated aliases for Achromatopsia 2:

Name: Achromatopsia 2 57 12 20 72 29 6 15 70
Rod Monochromatism 2 57 12 20 72
Rod Monochromacy 2 57 12 20 72
Achm2 57 12 20 72
Rmch2 57 12 20 72
Complete Achromatopsia 72 6
Colorblindness, Total 57 20
Rod Monochromacy 2; Rmch2 57
Achromatopsia, Type 2 39
Total Colorblindness 72
Color Blindness 70
Achromatopsia-2 13
Achromatopsia 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
achromatopsia 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110007
OMIM® 57 216900
MeSH 44 D003117
MedGen 41 C1857618
UMLS 70 C0152200 C0242225 C1857618

Summaries for Achromatopsia 2

GARD : 20 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 7 and achromatopsia, 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 Subunit Alpha 3), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and CREB Pathway. The drugs Glycerol and carbamide peroxide have been mentioned in the context of this disorder. 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 7 30.8 PDE6H PDE6C GNAT2 CNGB3 CNGA3
2 achromatopsia 29.7 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
3 pathologic nystagmus 29.5 PDE6C GNAT2 CNGB3 CNGA3
4 eye disease 29.4 NR2E3 GNAT2 CNGB3 CNGA3
5 achromatopsia 3 29.2 PDE6H PDE6C GNAT2 CNGB3 CNGA3
6 achromatopsia 4 29.2 PDE6H PDE6C GNAT2 CNGB3 CNGA3
7 retinal disease 28.9 NR2E3 CNGB3 CNGB1 CNGA3 CNGA1
8 cone dystrophy 4 11.1
9 retinitis pigmentosa 44 10.2 CNGB3 CNGA3
10 choroid disease 10.1 CNGB3 CNGA3
11 scotoma 10.1 CNGB3 CNGA3
12 congenital nystagmus 10.1 CNGB3 CNGA3
13 color vision deficiency 10.1 NR2E3 CNGA3
14 night blindness, congenital stationary, type 2a 10.0 PDE6H GNAT2
15 choroideremia 10.0 CNGB3 CNGA3
16 ifap syndrome 2 10.0
17 cone-rod dystrophy 8 10.0 GNAT2 CNGB3 CNGA3
18 retinitis pigmentosa 39 10.0 GNAT2 CNGA1
19 yemenite deaf-blind hypopigmentation syndrome 9.9
20 autosomal recessive disease 9.9
21 leber congenital amaurosis 1 9.9 CNGB3 CNGA3 CNGA1
22 inherited retinal disorder 9.9
23 retinitis pigmentosa 45 9.9 CNGB1 CNGA1
24 cycloplegia 9.9 PDE6H PDE6C GNAT2
25 retinitis pigmentosa 29 9.9 CNGB1 CNGA1
26 retinitis pigmentosa 1 9.9 NR2E3 CNGA1
27 retinitis pigmentosa 26 9.8 CNGB3 CNGB1 CNGA3
28 vitelliform macular dystrophy 9.8 CNGB3 CNGA3
29 choroidal dystrophy, central areolar, 1 9.8 PDE6H PDE6C NR2E3
30 retinitis pigmentosa 49 9.8 CNGB1 CNGA1
31 oligocone trichromacy 9.8 PDE6C GNAT2 CNGB3 CNGA3
32 colorblindness, partial, protan series 9.7 PDE6C GNAT2 CNGB3 CNGA3
33 jalili syndrome 9.7 PDE6C GNAT2 CNGB3 CNGA3
34 prolonged electroretinal response suppression 9.7 NR2E3 GNAT2 CNGB3 CNGA3
35 retinoschisis 1, x-linked, juvenile 9.7 NR2E3 GNAT2 CNGB3 CNGA3
36 stargardt disease 9.7 NR2E3 GNAT2 CNGB3 CNGA3
37 macular degeneration, age-related, 1 9.6 NR2E3 GNAT2 CNGB3 CNGA3
38 red-green color blindness 9.6 PDE6H PDE6C GNAT2 CNGB3 CNGA3
39 tritanopia 9.6 PDE6H PDE6C GNAT2 CNGB3 CNGA3
40 retinal degeneration 9.4 NR2E3 GNAT2 CNGB1
41 enhanced s-cone syndrome 9.4 NR2E3 GNAT2 CNGB3 CNGA3 CNGA1
42 blue cone monochromacy 9.3 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGA3
43 cone-rod dystrophy 6 9.2 PDE6H PDE6C GNAT2 CNGB3 CNGB1 CNGA3
44 eye degenerative disease 9.1 NR2E3 GNAT2 CNGB3 CNGB1 CNGA3 CNGA1
45 usher syndrome 9.1 NR2E3 GNAT2 CNGB3 CNGB1 CNGA3 CNGA1
46 cone dystrophy 8.9 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
47 congenital stationary night blindness 8.9 PDE6C NR2E3 GNAT2 CNGB3 CNGB1 CNGA3
48 color blindness 8.7 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
49 leber plus disease 8.7 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
50 fundus dystrophy 8.2 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1

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



Diseases related to Achromatopsia 2

Symptoms & Phenotypes for Achromatopsia 2

Human phenotypes related to Achromatopsia 2:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 blindness 31 HP:0000618
3 photophobia 31 HP:0000613
4 hemeralopia 31 HP:0012047
5 achromatopsia 31 HP:0011516

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
photophobia
day blindness
infantile nystagmus
colors indistinguishable
funduscopy normal
more

Clinical features from OMIM®:

216900 (Updated 20-May-2021)

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 vision/eye MP:0005391 9.1 CNGA3 CNGB3 GNAT2 NR2E3 PDE6C PDE6H

Drugs & Therapeutics for Achromatopsia 2

Drugs for Achromatopsia 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
2
carbamide peroxide Approved Early Phase 1 124-43-6
3 4-phenylbutyric acid Early Phase 1
4 Protective Agents Early Phase 1

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants With CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
2 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 Completed NCT03001310 Phase 1, Phase 2
3 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Children and Adults With Achromatopsia Owing to Defects in CNGA3 Recruiting NCT03758404 Phase 1, Phase 2
4 Safety and Efficacy of a Bilateral Single Subretinal Injection of rAAV.hCNGA3 in Adult and Minor Patients With CNGA3-linked Achromatopsia Investigated in a Randomized, Wait List Controlled, Observer-masked Trial Recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
5 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 (rAAV2tYF-PR1.7-hCNGB3) in Patients With Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene Recruiting NCT02599922 Phase 1, Phase 2
6 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC 402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients With Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene Recruiting NCT02935517 Phase 1, Phase 2
7 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 or CNGA3 Recruiting NCT03278873 Phase 1, Phase 2
8 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
9 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Completed NCT04060238
10 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures - Population Genetic Study Completed NCT03481764
11 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
12 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
13 Axicabtagene Ciloleucel:Neurocognitive and Patient-Reported Outcomes Recruiting NCT04319237
14 Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials Recruiting NCT04124185
15 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA

Search 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:

40
Eye, Retina

Publications for Achromatopsia 2

Articles related to Achromatopsia 2:

(show all 43)
# Title Authors PMID Year
1
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 57 6
25616768 2015
2
Novel CNGA3 mutations in Chinese patients with achromatopsia. 6 57
25637600 2015
3
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. 6 57
20549516 2010
4
CNGA3 mutations in hereditary cone photoreceptor disorders. 57 6
11536077 2001
5
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 57 6
9662398 1998
6
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. 61 57
9721202 1998
7
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
8
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability. 6
30682209 2019
9
ClinVar: improving access to variant interpretations and supporting evidence. 6
29165669 2018
10
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations. 6
29099798 2017
11
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. 6
28159970 2017
12
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. 6
26992781 2016
13
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. 6
26407004 2015
14
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. 6
25168900 2014
15
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. 6
24676353 2014
16
Retinal structure and function in achromatopsia: implications for gene therapy. 6
24148654 2014
17
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. 6
21901789 2011
18
Photoreceptor structure and function in patients with congenital achromatopsia. 6
21778272 2011
19
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 6
18521937 2008
20
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 6
18445228 2008
21
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. 6
17693388 2007
22
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 57
17265047 2007
23
Optical coherence tomography of the macula in congenital achromatopsia. 57
17460287 2007
24
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 6
15712225 2005
25
Red contact lenses for alleviation of photophobia in patients with cone disorders. 57
15059731 2004
26
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 6
14757870 2004
27
Is color vision deficiency an advantage under scotopic conditions? 57
11726645 2001
28
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. 57
9158143 1997
29
Hereditary disorders among Iranian Jews. 57
7573153 1995
30
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. 57
1347967 1992
31
Congenital achromatopsia in a Finnish family. 57
308762 1978
32
Congenital rod monochromatism in a brother and sister. 57
310038 1978
33
What is it that confines in a world without color? 57
4605446 1974
34
Congenital total color blindness: a clincopathological report. 57
13711836 1960
35
High-Throughput Ca2+ Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function. 61
31290651 2019
36
Homeostatic Changes in GABA and Acetylcholine Muscarinic Receptors on GABAergic Neurons in the Mesencephalic Reticular Formation following Sleep Deprivation. 61
29302615 2017
37
Homeostatic regulation through GABA and acetylcholine muscarinic receptors of motor trigeminal neurons following sleep deprivation. 61
28299422 2017
38
AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects. 61
28596720 2017
39
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. 61
25855802 2015
40
[Gene replacement therapy in achromatopsia type 2]. 61
24658860 2014
41
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. 61
15980212 2005
42
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). 61
12187427 2002
43
Retinal degeneration mutants in the mouse. 61
11853768 2002

Variations for Achromatopsia 2

ClinVar genetic disease variations for Achromatopsia 2:

6 (show top 50) (show all 122)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGA3 NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) SNV Pathogenic 9473 rs104893612 GRCh37: 2:99006159-99006159
GRCh38: 2:98389696-98389696
2 CNGA3 NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) SNV Pathogenic 9477 rs104893616 GRCh37: 2:99012505-99012505
GRCh38: 2:98396042-98396042
3 CNGA3 NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) SNV Pathogenic 9479 rs137852608 GRCh37: 2:99012861-99012861
GRCh38: 2:98396398-98396398
4 CNGA3 NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs) Indel Pathogenic 560440 rs1558820471 GRCh37: 2:99012943-99012945
GRCh38: 2:98396480-98396482
5 CNGA3 NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) SNV Pathogenic 812122 rs1574385431 GRCh37: 2:99006231-99006231
GRCh38: 2:98389768-98389768
6 CNGA3 NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) SNV Pathogenic 800759 rs763041373 GRCh37: 2:99013401-99013401
GRCh38: 2:98396938-98396938
7 CNGA3 NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) Deletion Pathogenic 988795 GRCh37: 2:99012744-99012744
GRCh38: 2:98396281-98396281
8 CNGA3 NM_001298.3(CNGA3):c.830G>A (p.Arg277His) SNV Pathogenic 800983 rs778114016 GRCh37: 2:99012463-99012463
GRCh38: 2:98396000-98396000
9 CNGA3 NM_001298.3(CNGA3):c.101+2dup Duplication Pathogenic 1031964 GRCh37: 2:98986540-98986541
GRCh38: 2:98370077-98370078
10 CNGA3 NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) SNV Pathogenic 9475 rs104893614 GRCh37: 2:99012481-99012481
GRCh38: 2:98396018-98396018
11 CNGA3 NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) SNV Pathogenic 9476 rs104893615 GRCh37: 2:99013302-99013302
GRCh38: 2:98396839-98396839
12 CNGA3 NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) SNV Pathogenic 9478 rs104893617 GRCh37: 2:99013274-99013274
GRCh38: 2:98396811-98396811
13 CNGA3 NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) SNV Pathogenic 9480 rs104893619 GRCh37: 2:99013218-99013218
GRCh38: 2:98396755-98396755
14 CNGA3 NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) SNV Pathogenic 337652 rs777509481 GRCh37: 2:98986505-98986505
GRCh38: 2:98370042-98370042
15 CNGA3 NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) SNV Pathogenic 497256 rs141386891 GRCh37: 2:99012912-99012912
GRCh38: 2:98396449-98396449
16 CNGA3 NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) SNV Pathogenic 598143 rs149802213 GRCh37: 2:99012444-99012444
GRCh38: 2:98395981-98395981
17 CNGA3 NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) SNV Pathogenic 498768 rs138958917 GRCh37: 2:99008427-99008427
GRCh38: 2:98391964-98391964
18 CNGA3 NM_001298.3(CNGA3):c.967G>C (p.Ala323Pro) SNV Pathogenic 284032 rs146195955 GRCh37: 2:99012600-99012600
GRCh38: 2:98396137-98396137
19 CNGA3 NM_001298.3(CNGA3):c.902_903delinsAA (p.Phe301Ter) Indel Pathogenic 988793 GRCh37: 2:99012535-99012536
GRCh38: 2:98396072-98396073
20 CNGA3 NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) SNV Pathogenic 9481 rs104893620 GRCh37: 2:99012462-99012462
GRCh38: 2:98395999-98395999
21 CNGA3 NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) SNV Pathogenic 9482 rs104893621 GRCh37: 2:99012939-99012939
GRCh38: 2:98396476-98396476
22 CNGA3 NM_001298.3(CNGA3):c.1126G>A (p.Glu376Lys) SNV Likely pathogenic 866210 GRCh37: 2:99012759-99012759
GRCh38: 2:98396296-98396296
23 CNGA3 NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser) SNV Likely pathogenic 812281 rs1464167194 GRCh37: 2:99012747-99012747
GRCh38: 2:98396284-98396284
24 CNGA3 NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) SNV Likely pathogenic 9478 rs104893617 GRCh37: 2:99013274-99013274
GRCh38: 2:98396811-98396811
25 CNGA3 NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs) Duplication Likely pathogenic 599216 rs1558811557 GRCh37: 2:98994173-98994174
GRCh38: 2:98377710-98377711
26 CNGA3 NM_001298.3(CNGA3):c.1687C>T (p.Arg563Cys) SNV Likely pathogenic 596480 rs150153987 GRCh37: 2:99013320-99013320
GRCh38: 2:98396857-98396857
27 CNGA3 NM_001298.3(CNGA3):c.572G>A (p.Cys191Tyr) SNV Likely pathogenic 866560 GRCh37: 2:99008332-99008332
GRCh38: 2:98391869-98391869
28 CNGA3 NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu) SNV Likely pathogenic 989367 GRCh37: 2:99012913-99012913
GRCh38: 2:98396450-98396450
29 CNGA3 NM_001298.3(CNGA3):c.1579C>A (p.Leu527Met) SNV Likely pathogenic 988792 GRCh37: 2:99013212-99013212
GRCh38: 2:98396749-98396749
30 CNGA3 NM_001298.3(CNGA3):c.1286T>C (p.Val429Ala) SNV Likely pathogenic 988794 GRCh37: 2:99012919-99012919
GRCh38: 2:98396456-98396456
31 CNGA3 NM_001298.3(CNGA3):c.589T>C (p.Ser197Pro) SNV Likely pathogenic 829838 rs1330263985 GRCh37: 2:99008349-99008349
GRCh38: 2:98391886-98391886
32 CNGA3 NM_001298.3(CNGA3):c.1085C>T (p.Thr362Ile) SNV Likely pathogenic 829859 rs1574390811 GRCh37: 2:99012718-99012718
GRCh38: 2:98396255-98396255
33 CNGA3 NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) SNV Likely pathogenic 9474 rs104893613 GRCh37: 2:99012480-99012480
GRCh38: 2:98396017-98396017
34 CNGA3 NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn) SNV Likely pathogenic 689726 rs374258471 GRCh37: 2:99012411-99012411
GRCh38: 2:98395948-98395948
35 CNGA3 NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) SNV Likely pathogenic 9474 rs104893613 GRCh37: 2:99012480-99012480
GRCh38: 2:98396017-98396017
36 CNGA3 NM_001298.3(CNGA3):c.101+1G>A SNV Conflicting interpretations of pathogenicity 208567 rs147118493 GRCh37: 2:98986540-98986540
GRCh38: 2:98370077-98370077
37 CNGA3 NM_001298.3(CNGA3):c.473C>T (p.Ala158Val) SNV Uncertain significance 374721 rs138934573 GRCh37: 2:99006144-99006144
GRCh38: 2:98389681-98389681
38 CNGA3 NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr) SNV Uncertain significance 858875 GRCh37: 2:98994259-98994259
GRCh38: 2:98377796-98377796
39 CNGA3 NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) SNV Uncertain significance 864739 GRCh37: 2:99013615-99013615
GRCh38: 2:98397152-98397152
40 CNGA3 NM_001298.3(CNGA3):c.777C>A (p.Thr259=) SNV Uncertain significance 337660 rs138921037 GRCh37: 2:99012410-99012410
GRCh38: 2:98395947-98395947
41 CNGA3 NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg) SNV Uncertain significance 897209 GRCh37: 2:98999895-98999895
GRCh38: 2:98383432-98383432
42 CNGA3 NM_001298.3(CNGA3):c.822G>T (p.Arg274Ser) SNV Uncertain significance 800820 rs368513591 GRCh37: 2:99012455-99012455
GRCh38: 2:98395992-98395992
43 CNGA3 NM_001298.3(CNGA3):c.80G>A (p.Arg27His) SNV Uncertain significance 895317 GRCh37: 2:98986518-98986518
GRCh38: 2:98370055-98370055
44 CNGA3 NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) SNV Uncertain significance 337662 rs190014426 GRCh37: 2:99012976-99012976
GRCh38: 2:98396513-98396513
45 CNGA3 NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) SNV Uncertain significance 337659 rs147415641 GRCh37: 2:99012315-99012315
GRCh38: 2:98395852-98395852
46 CNGA3 NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) SNV Uncertain significance 337661 rs752170364 GRCh37: 2:99012616-99012616
GRCh38: 2:98396153-98396153
47 CNGA3 NM_001298.3(CNGA3):c.198C>T (p.Thr66=) SNV Uncertain significance 257962 rs139544302 GRCh37: 2:98994246-98994246
GRCh38: 2:98377783-98377783
48 CNGA3 NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) SNV Uncertain significance 425212 rs116448158 GRCh37: 2:99013251-99013251
GRCh38: 2:98396788-98396788
49 CNGA3 NM_001298.3(CNGA3):c.*469A>G SNV Uncertain significance 337676 rs536138883 GRCh37: 2:99014187-99014187
GRCh38: 2:98397724-98397724
50 CNGA3 NM_001298.3(CNGA3):c.*516T>C SNV Uncertain significance 337677 rs886056492 GRCh37: 2:99014234-99014234
GRCh38: 2:98397771-98397771

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

72 (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 rs146416719
26 CNGA3 p.Phe380Ser VAR_047585
27 CNGA3 p.Ser401Pro VAR_047586 rs916035276
28 CNGA3 p.Met406Thr VAR_047587 rs155345073
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 rs908111816
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

Expression for Achromatopsia 2

Search GEO for disease gene expression data for Achromatopsia 2.

Pathways for Achromatopsia 2

Pathways related to Achromatopsia 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 GNAT2 CNGB3 CNGB1 CNGA3 CNGA1
2
Show member pathways
12.8 GNAT2 CNGB3 CNGB1 CNGA3 CNGA1
3
Show member pathways
12.78 CNGB3 CNGB1 CNGA3 CNGA1
4
Show member pathways
12.56 CNGB3 CNGB1 CNGA3 CNGA1
5
Show member pathways
12.15 CNGB3 CNGB1 CNGA3 CNGA1
6 11.89 CNGB3 CNGB1 CNGA3 CNGA2 CNGA1
7
Show member pathways
11.36 PDE6H PDE6C GNAT2 CNGB3 CNGB1 CNGA3
8 11.33 GNAT2 CNGB3 CNGB1 CNGA3 CNGA1

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 photoreceptor outer segment membrane GO:0042622 9.33 PDE6H GNAT2 CNGA1
2 ciliary membrane GO:0060170 9.32 CNGB1 CNGA2
3 Golgi-associated vesicle membrane GO:0030660 9.26 CNGB1 CNGA2
4 photoreceptor outer segment GO:0001750 9.26 GNAT2 CNGB3 CNGB1 CNGA1
5 transmembrane transporter complex GO:1902495 8.8 CNGB3 CNGB1 CNGA3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.89 PDE6C NR2E3 GNAT2 CNGB3 CNGA3
2 ion transport GO:0006811 9.72 CNGB3 CNGB1 CNGA3 CNGA2 CNGA1
3 response to stimulus GO:0050896 9.61 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
4 cation transport GO:0006812 9.54 CNGB3 CNGB1 CNGA3
5 regulation of rhodopsin mediated signaling pathway GO:0022400 9.48 CNGB1 CNGA1
6 detection of light stimulus involved in visual perception GO:0050908 9.46 GNAT2 CNGB1
7 cation transmembrane transport GO:0098655 9.46 CNGB3 CNGB1 CNGA2 CNGA1
8 retinal cone cell development GO:0046549 9.43 PDE6C GNAT2
9 phototransduction GO:0007602 9.43 NR2E3 GNAT2 CNGB1
10 rhodopsin mediated signaling pathway GO:0016056 9.4 CNGB1 CNGA1
11 visual perception GO:0007601 9.23 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.8 PDE6C GNAT2 CNGB3 CNGB1 CNGA3 CNGA2
2 ion channel activity GO:0005216 9.61 CNGA3 CNGA2 CNGA1
3 intracellular cAMP-activated cation channel activity GO:0005222 9.55 CNGB3 CNGB1 CNGA3 CNGA2 CNGA1
4 ligand-gated ion channel activity GO:0015276 9.48 CNGB1 CNGA3
5 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.46 PDE6H PDE6C
6 cAMP binding GO:0030552 9.4 CNGB1 CNGA2
7 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.37 PDE6H PDE6C
8 intracellular cGMP-activated cation channel activity GO:0005223 9.35 CNGB3 CNGB1 CNGA3 CNGA2 CNGA1
9 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.32 CNGB1 CNGA1
10 cGMP binding GO:0030553 9.17 PDE6H PDE6C CNGB3 CNGB1 CNGA3 CNGA2

Sources for Achromatopsia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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