MCID: ACH003
MIFTS: 57

Achromatopsia

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Achromatopsia

MalaCards integrated aliases for Achromatopsia:

Name: Achromatopsia 39 12 77 25 26 60 38 30 56 6 15 41 74
Total Color Blindness 26 60
Rod Monochromatism 26 60
Achm 12 60
Complete or Incomplete Color Blindness 60
Pingelapese Blindness 60
Rod Monochromacy 60
Achromatopsia 2 74
Achromatopsia 3 74
Achromatopsia 1 74
Monochromatism 12
Achromatism 26

Characteristics:

Orphanet epidemiological data:

60
achromatopsia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13911
KEGG 38 H00971
ICD9CM 36 368.54
MeSH 45 D003117
NCIt 51 C84528
SNOMED-CT 69 56852002
ICD10 34 H53.51
ICD10 via Orphanet 35 H53.5
UMLS via Orphanet 75 C0152200
Orphanet 60 ORPHA49382

Summaries for Achromatopsia

Genetics Home Reference : 26 Achromatopsia is a condition characterized by a partial or total absence of color vision. People with complete achromatopsia cannot perceive any colors; they see only black, white, and shades of gray. Incomplete achromatopsia is a milder form of the condition that allows some color discrimination.

MalaCards based summary : Achromatopsia, also known as total color blindness, is related to achromatopsia 4 and achromatopsia 2, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, testes and cortex, and related phenotypes are photophobia and abnormal electroretinogram

Disease Ontology : 12 A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has material basis in autosomal recessive inheritance.

Wikipedia : 77 Achromatopsia, also known as total color blindness, is a medical syndrome that exhibits symptoms... more...

GeneReviews: NBK1418

Related Diseases for Achromatopsia

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

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

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 4 34.5 CNGA3 CNGB3 GNAT2
2 achromatopsia 2 34.5 CNGA3 CNGB3
3 achromatopsia 7 34.4 ATF6 LOC102724329
4 achromatopsia 3 34.1 CNGA3 CNGB3 GNAT2 NYX RPE65
5 blue cone monochromacy 33.6 CNGA3 CNGB3 OPN1LW OPSIN-LCR
6 retinal cone dystrophy 3a 33.2 LOC105369670 PDE6H
7 color blindness 31.3 CNGA3 CNGB3 GNAT2 OPN1LW OPN1SW PDE6C
8 pathologic nystagmus 30.5 CNGA3 CNGB3 GNAT2 SLC38A8
9 color vision deficiency 30.5 CNGA3 NR2E3 OPN1LW OPSIN-LCR
10 cone dystrophy 30.5 CNGB3 OPN1LW PDE6C PDE6H RPGR
11 stargardt disease 1 30.4 CNGB3 GNAT2
12 jalili syndrome 30.2 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
13 retinal disease 29.7 CNGB1 CNGB3 NRL NYX RPE65 RPGR
14 retinitis pigmentosa 29.3 ATF6 CNGA3 CNGB1 NR2E3 NRL NYX
15 cone dystrophy 4 12.1
16 foveal hypoplasia 1 11.0
17 tritanopia 11.0
18 nystagmus 1, congenital, x-linked 11.0
19 foveal hypoplasia 2 11.0
20 vitiligo-associated multiple autoimmune disease susceptibility 1 10.4
21 cone-rod dystrophy 8 10.4 CNGA3 CNGB3 GNAT2
22 cone-rod dystrophy 9 10.4 CNGA3 CNGB3 GNAT2
23 cone dystrophy 3 10.3 LOC105369670 PDE6H
24 retinitis pigmentosa 44 10.3 CNGA3 CNGB3 RPGR
25 oligocone trichromacy 10.3 CNGA3 CNGB3 GNAT2 PDE6C
26 retinitis pigmentosa 26 10.3 CNGA3 CNGB3 RPGR
27 neuropathy 10.3
28 peripheral nervous system disease 10.3
29 choroid disease 10.3 CNGB3 RPE65 RPGR
30 goldmann-favre syndrome 10.2 NR2E3 NRL
31 red-green color blindness 10.2 CNGB3 OPN1LW RPE65
32 suppression amblyopia 10.2
33 amblyopia 10.2
34 enhanced s-cone syndrome 10.2 CNGA3 NR2E3 NRL
35 colorblindness, partial, protan series 10.2 CNGB3 OPN1LW
36 neutrophil migration 10.2
37 retinoschisis 1, x-linked, juvenile 10.2 CNGB3 NYX RPE65
38 cone-rod dystrophy, x-linked, 2 10.1 OPN1LW RPGR
39 cone-rod dystrophy 6 10.1 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR
40 cone-rod dystrophy 2 10.1 GNAT2 NR2E3 RPE65 RPGR
41 stargardt disease 10.1 CNGB3 GNAT2 PDE6H RPE65 RPGR
42 frontotemporal dementia 10.1
43 dementia 10.1
44 cystic kidney disease 10.1
45 leber congenital amaurosis 4 10.1
46 retinitis 10.1
47 congenital stationary night blindness 10.0 CNGB3 GNAZ NYX RPE65
48 mycosis fungoides 10.0
49 xeroderma pigmentosum, variant type 10.0
50 intraocular pressure quantitative trait locus 10.0

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to Achromatopsia

Symptoms & Phenotypes for Achromatopsia

Human phenotypes related to Achromatopsia:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000613
2 abnormal electroretinogram 60 33 hallmark (90%) Very frequent (99-80%) HP:0000512
3 exotropia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000577
4 dyschromatopsia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007641
5 pendular nystagmus 60 33 hallmark (90%) Very frequent (99-80%) HP:0012043
6 hypermetropia 60 33 frequent (33%) Frequent (79-30%) HP:0000540
7 central scotoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000603
8 hypoplasia of the fovea 60 33 occasional (7.5%) Occasional (29-5%) HP:0007750
9 attenuation of retinal blood vessels 60 33 occasional (7.5%) Occasional (29-5%) HP:0007843
10 granular macular appearance 60 33 occasional (7.5%) Occasional (29-5%) HP:0007793
11 retinal pigment epithelial atrophy 33 occasional (7.5%) HP:0007722
12 blue cone monochromacy 60 33 very rare (1%) Very rare (<4-1%) HP:0007939
13 visual impairment 60 Very frequent (99-80%)
14 loss of retinal pigment epithelium 60 Occasional (29-5%)
15 monochromacy 60 Very frequent (99-80%)

UMLS symptoms related to Achromatopsia:


photophobia

GenomeRNAi Phenotypes related to Achromatopsia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased circadian period length GR00213-A 8.92 ATF6 CNNM4 NYX OPN1LW

MGI Mouse Phenotypes related to Achromatopsia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 CNGA3 CNGB3 GNAT2 GNAZ NR2E3 NRL
2 vision/eye MP:0005391 9.44 CNGA3 CNGB3 CNNM4 GNAT2 NR2E3 NRL

Drugs & Therapeutics for Achromatopsia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CNTF Implants for CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
2 Gene Therapy for Achromatopsia (CNGB3) Recruiting NCT03001310 Phase 1, Phase 2
3 Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 Recruiting NCT03278873 Phase 1, Phase 2
4 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Recruiting NCT02935517 Phase 1, Phase 2
5 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
6 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
7 Gene Therapy for Achromatopsia (CNGA3) Not yet recruiting NCT03758404 Phase 1, Phase 2
8 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
9 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940

Search NIH Clinical Center for Achromatopsia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Achromatopsia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Achromatopsia:
Renexus (NT-501), CNTF-secreting cells for treatment of retinal diseases
Embryonic/Adult Cultured Cells Related to Achromatopsia:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Genetic Tests for Achromatopsia

Genetic tests related to Achromatopsia:

# Genetic test Affiliating Genes
1 Achromatopsia 30 PDE6C PDE6H

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

42
Eye, Testes, Cortex, Kidney, Neutrophil

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 226)
# Title Authors Year
1
Blinded by the light: a nonhuman primate model of achromatopsia. ( 30667378 )
2019
2
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability. ( 30682209 )
2019
3
Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families. ( 30804581 )
2019
4
Akinetopsia with achromatopsia due to focal epilepsy. ( 30856459 )
2019
5
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. ( 31058429 )
2019
6
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up. ( 30513534 )
2018
7
Rod Monochromatism (Achromatopsia). ( 30578497 )
2018
8
A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3. ( 30592498 )
2018
9
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. ( 27820752 )
2018
10
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
11
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature. ( 29257187 )
2018
12
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. ( 29303385 )
2018
13
Cerebral achromatopsia secondary to ischemic stroke. ( 29547203 )
2018
14
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. ( 29618791 )
2018
15
Foveal hypoplasia in a patient with achromatopsia. ( 29773314 )
2018
16
Six Years and Counting: Restoration of Photopic Retinal Function and Visual Behavior Following Gene Augmentation Therapy in a Sheep Model of CNGA3 Achromatopsia. ( 29926749 )
2018
17
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. ( 30080950 )
2018
18
Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial. ( 30187779 )
2018
19
Novel causative variants in patients with achromatopsia. ( 30289319 )
2018
20
Deep learning based detection of cone photoreceptors with multimodal adaptive optics scanning light ophthalmoscope images of achromatopsia. ( 30338152 )
2018
21
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. ( 27718025 )
2017
22
Achromatopsia mutations target sequential steps of ATF6 activation. ( 28028229 )
2017
23
Gene therapy for achromatopsia. ( 28095637 )
2017
24
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. ( 28145975 )
2017
25
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. ( 28159970 )
2017
26
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. ( 28197754 )
2017
27
Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. ( 28241315 )
2017
28
Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep. ( 28478700 )
2017
29
AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects. ( 28596720 )
2017
30
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia. ( 28715587 )
2017
31
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. ( 28795510 )
2017
32
Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia. ( 29131863 )
2017
33
Achromatopsia in three sibling Labrador Retrievers in the UK. ( 25752464 )
2016
34
Understanding Cone Photoreceptor Cell Death in Achromatopsia. ( 26427416 )
2016
35
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. ( 26427422 )
2016
36
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
37
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
38
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003752 )
2016
39
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003753 )
2016
40
Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. ( 27040408 )
2016
41
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. ( 27124317 )
2016
42
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. ( 27472364 )
2016
43
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. ( 27479814 )
2016
44
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26950208 )
2016
45
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26956923 )
2016
46
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. ( 25461672 )
2015
47
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ( 25605338 )
2015
48
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. ( 25616768 )
2015
49
Novel CNGA3 mutations in Chinese patients with achromatopsia. ( 25637600 )
2015
50
CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function. ( 25737149 )
2015

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6 (show top 50) (show all 411)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh37 Chromosome 8, 87656009: 87656009
2 CNGB3 NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs) deletion Conflicting interpretations of pathogenicity rs397515360 GRCh38 Chromosome 8, 86643781: 86643781
3 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
4 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
5 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh37 Chromosome 2, 99012939: 99012939
6 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh38 Chromosome 2, 98396476: 98396476
7 CNGA3 NM_001298.2(CNGA3): c.110C> T (p.Ser37Leu) single nucleotide variant Uncertain significance rs141086649 GRCh37 Chromosome 2, 98994158: 98994158
8 CNGA3 NM_001298.2(CNGA3): c.110C> T (p.Ser37Leu) single nucleotide variant Uncertain significance rs141086649 GRCh38 Chromosome 2, 98377695: 98377695
9 CNGA3 NM_001298.2(CNGA3): c.110C> T (p.Ser37Leu) single nucleotide variant Uncertain significance rs141086649 NCBI36 Chromosome 2, 98360590: 98360590
10 PDE6C NM_006204.3(PDE6C): c.252G> A (p.Leu84=) single nucleotide variant Benign/Likely benign rs1131978 GRCh37 Chromosome 10, 95372734: 95372734
11 PDE6C NM_006204.3(PDE6C): c.252G> A (p.Leu84=) single nucleotide variant Benign/Likely benign rs1131978 GRCh38 Chromosome 10, 93612977: 93612977
12 PDE6C NM_006204.3(PDE6C): c.282C> T (p.Asp94=) single nucleotide variant Benign/Likely benign rs12781149 GRCh37 Chromosome 10, 95372764: 95372764
13 PDE6C NM_006204.3(PDE6C): c.282C> T (p.Asp94=) single nucleotide variant Benign/Likely benign rs12781149 GRCh38 Chromosome 10, 93613007: 93613007
14 CNGB3 NM_019098.4(CNGB3): c.892A> C (p.Thr298Pro) single nucleotide variant Benign rs4961206 GRCh37 Chromosome 8, 87666251: 87666251
15 CNGB3 NM_019098.4(CNGB3): c.892A> C (p.Thr298Pro) single nucleotide variant Benign rs4961206 GRCh38 Chromosome 8, 86654023: 86654023
16 CNGB3 NM_019098.4(CNGB3): c.80A> G (p.Asn27Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35807406 GRCh37 Chromosome 8, 87755776: 87755776
17 CNGB3 NM_019098.4(CNGB3): c.80A> G (p.Asn27Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs35807406 GRCh38 Chromosome 8, 86743548: 86743548
18 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh37 Chromosome 8, 87645092: 87645092
19 CNGB3 NM_019098.4(CNGB3): c.1208G> A (p.Arg403Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147876778 GRCh38 Chromosome 8, 86632864: 86632864
20 CNGB3 NM_019098.4(CNGB3): c.2264A> G (p.Glu755Gly) single nucleotide variant Benign/Likely benign rs3735972 GRCh37 Chromosome 8, 87588198: 87588198
21 CNGB3 NM_019098.4(CNGB3): c.2264A> G (p.Glu755Gly) single nucleotide variant Benign/Likely benign rs3735972 GRCh38 Chromosome 8, 86575970: 86575970
22 CNGB3 NM_019098.4(CNGB3): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs3735970 GRCh37 Chromosome 8, 87588248: 87588248
23 CNGB3 NM_019098.4(CNGB3): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs3735970 GRCh38 Chromosome 8, 86576020: 86576020
24 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh38 Chromosome 8, 86625982: 86625982
25 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh37 Chromosome 8, 87638210: 87638210
26 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373862340 GRCh37 Chromosome 8, 87656899: 87656899
27 CNGB3 NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter) single nucleotide variant Pathogenic/Likely pathogenic rs373862340 GRCh38 Chromosome 8, 86644671: 86644671
28 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh38 Chromosome 8, 86743516: 86743516
29 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh37 Chromosome 8, 87755744: 87755744
30 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh37 Chromosome 1, 110153101: 110153101
31 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh38 Chromosome 1, 109610479: 109610479
32 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh37 Chromosome 1, 110151344: 110151344
33 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh38 Chromosome 1, 109608722: 109608722
34 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh37 Chromosome 10, 95381707: 95381707
35 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh38 Chromosome 10, 93621950: 93621950
36 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh37 Chromosome 1, 110146108: 110146108
37 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh38 Chromosome 1, 109603486: 109603486
38 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh37 Chromosome 1, 110148974: 110148974
39 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh38 Chromosome 1, 109606352: 109606352
40 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Benign/Likely benign rs3738766 GRCh38 Chromosome 1, 109608773: 109608773
41 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Benign/Likely benign rs3738766 GRCh37 Chromosome 1, 110151395: 110151395
42 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Benign/Likely benign rs2304355 GRCh38 Chromosome 1, 109612902: 109612902
43 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Benign/Likely benign rs2304355 GRCh37 Chromosome 1, 110155524: 110155524
44 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Benign/Likely benign rs6727412 GRCh37 Chromosome 2, 98986510: 98986510
45 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Benign/Likely benign rs6727412 GRCh38 Chromosome 2, 98370047: 98370047
46 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Benign/Likely benign rs7000747 GRCh37 Chromosome 8, 87616311: 87616311
47 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Benign/Likely benign rs7000747 GRCh38 Chromosome 8, 86604083: 86604083
48 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Benign/Likely benign rs34839859 GRCh37 Chromosome 8, 87641271: 87641271
49 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Benign/Likely benign rs34839859 GRCh38 Chromosome 8, 86629043: 86629043
50 CNGB3 NM_019098.4(CNGB3): c.919A> G (p.Ile307Val) single nucleotide variant Benign/Likely benign rs13265557 GRCh38 Chromosome 8, 86647872: 86647872

Expression for Achromatopsia

Search GEO for disease gene expression data for Achromatopsia.

Pathways for Achromatopsia

Pathways related to Achromatopsia according to KEGG:

38
# Name Kegg Source Accession
1 Phototransduction hsa04744

GO Terms for Achromatopsia

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.16 OPN1LW OPN1SW
2 transmembrane transporter complex GO:1902495 9.13 CNGA3 CNGB1 CNGB3
3 photoreceptor outer segment GO:0001750 9.1 CNGB1 CNGB3 GNAT2 OPN1LW OPN1SW RPGR

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 CNGA3 CNGB1 CNGB3 CNNM4 SLC38A8
2 visual perception GO:0007601 9.83 ATF6 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2
3 cation transport GO:0006812 9.65 CNGA3 CNGB1 CNGB3
4 retinoid metabolic process GO:0001523 9.61 OPN1LW OPN1SW RPE65
5 phototransduction GO:0007602 9.55 CNGB1 GNAT2 NR2E3 OPN1LW OPN1SW
6 cellular response to light stimulus GO:0071482 9.52 OPN1LW OPN1SW
7 protein-chromophore linkage GO:0018298 9.51 OPN1LW OPN1SW
8 detection of visible light GO:0009584 9.49 OPN1LW OPN1SW
9 response to stimulus GO:0050896 9.47 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2 NR2E3
10 retinal cone cell development GO:0046549 9.46 GNAT2 PDE6C
11 detection of light stimulus involved in visual perception GO:0050908 9.43 CNGB1 GNAT2 RPE65
12 positive regulation of rhodopsin gene expression GO:0045872 9.37 NR2E3 NRL
13 regulation of rhodopsin gene expression GO:0007468 9.32 NRL RPE65
14 signal transduction GO:0007165 10.06 ATF6 CNGA3 CNGB3 GNAT2 GNAZ NR2E3

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

# Name GO ID Score Top Affiliating Genes
1 G-protein beta/gamma-subunit complex binding GO:0031683 9.48 GNAT2 GNAZ
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.46 PDE6C PDE6H
3 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.43 PDE6C PDE6H
4 G protein-coupled photoreceptor activity GO:0008020 9.43 GNAT2 OPN1LW OPN1SW
5 guanyl nucleotide binding GO:0019001 9.4 GNAT2 GNAZ
6 photoreceptor activity GO:0009881 9.37 OPN1LW OPN1SW
7 intracellular cAMP-activated cation channel activity GO:0005222 9.33 CNGA3 CNGB1 CNGB3
8 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.32 CNGB1 CNGB3
9 intracellular cGMP-activated cation channel activity GO:0005223 9.13 CNGA3 CNGB1 CNGB3
10 cGMP binding GO:0030553 9.02 CNGA3 CNGB1 CNGB3 PDE6C PDE6H

Sources for Achromatopsia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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