MCID: ACH003
MIFTS: 56

Achromatopsia

Categories: Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Achromatopsia

MalaCards integrated aliases for Achromatopsia:

Name: Achromatopsia 38 12 76 24 25 59 37 29 55 6 15 40 73
Total Color Blindness 25 59
Rod Monochromatism 25 59
Achm 12 59
Complete or Incomplete Color Blindness 59
Pingelapese Blindness 59
Rod Monochromacy 59
Achromatopsia 2 73
Achromatopsia 3 73
Achromatopsia 1 73
Monochromatism 12
Achromatism 25

Characteristics:

Orphanet epidemiological data:

59
achromatopsia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13911
ICD10 33 H53.51
ICD9CM 35 368.54
MeSH 44 D003117
NCIt 50 C84528
SNOMED-CT 68 56852002
Orphanet 59 ORPHA49382
UMLS via Orphanet 74 C0152200
ICD10 via Orphanet 34 H53.5
KEGG 37 H00971

Summaries for Achromatopsia

Genetics Home Reference : 25 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 2 and achromatopsia 4, and has symptoms including photophobia An important gene associated with Achromatopsia is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3), 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 hypoplasia of the fovea and granular macular appearance

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 : 76 Achromatopsia (ACHM), 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 57)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 2 34.7 CNGA3 CNGB3 MFRP
2 achromatopsia 4 34.7 CNGA3 CNGB3 GNAT2
3 achromatopsia 3 34.5 CNGA3 CNGB3 GNAT2
4 achromatopsia 7 34.4 ATF6 LOC102724329
5 retinal cone dystrophy 3a 33.0 LOC105369670 PDE6H
6 blue cone monochromacy 32.8 CNGA3 CNGB3 OPN1LW OPN1MW OPSIN-LCR
7 cone-rod dystrophy 6 30.3 CNGA3 CNGB3 GNAT2 PDE6C RPGR
8 jalili syndrome 30.1 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
9 cone-rod dystrophy 2 30.0 CNGB3 CNNM4 GNAT2 RPGR
10 retinal disease 29.8 CNGA3 CNGB1 CNGB3 NRL RPGR
11 color blindness 29.5 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW
12 cone dystrophy 29.4 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H
13 myopia 29.4 MFRP OPN1LW OPN1MW RPGR
14 retinitis pigmentosa 28.1 ATF6 CNGA3 CNGB1 MFRP NR2E3 NRL
15 cone dystrophy 4 11.7
16 foveal hypoplasia 1 10.8
17 tritanopia 10.8
18 nystagmus 1, congenital, x-linked 10.8
19 foveal hypoplasia 2 10.8
20 retinitis pigmentosa 44 10.7 CNGA3 CNGB3 RPGR
21 oligocone trichromacy 10.6 CNGA3 CNGB3 GNAT2 PDE6C
22 retinitis pigmentosa 26 10.6 CNGA3 CNGB3 RPGR
23 pathologic nystagmus 10.6 CNGA3 GNAT2 SLC38A8
24 cone dystrophy 3 10.5 LOC105369670 PDE6H
25 goldmann-favre syndrome 10.5 NR2E3 NRL
26 stargardt disease 10.5 CNGB3 GNAT2 RPGR
27 colorblindness, partial, protan series 10.4 CNGB3 OPN1LW OPN1MW
28 red-green color blindness 10.4 CNGB3 OPN1LW OPN1MW
29 cerebritis 10.4
30 choroid disease 10.4 CNGB3 RPGR
31 retinitis 10.4
32 stargardt disease 1 10.2 CNGB3 GNAT2
33 enhanced s-cone syndrome 10.2 CNGA3 MFRP NR2E3 NRL
34 amblyopia 10.1
35 color vision deficiency 10.1 CNGA3 NR2E3 OPN1LW OPN1MW OPSIN-LCR
36 retinal degeneration 10.0 MFRP NR2E3 NRL RPGR
37 neuronitis 10.0
38 leber congenital amaurosis 4 9.9
39 3-methylglutaconic aciduria, type iii 9.8
40 choroiditis 9.8
41 dementia 9.8
42 dyslexia 9.8
43 central serous chorioretinopathy 9.8
44 corticobasal degeneration 9.8
45 alzheimer disease 9.8
46 aging 9.8
47 macular degeneration, age-related, 1 9.8
48 alopecia 9.8
49 anosognosia 9.8
50 cortical blindness 9.8

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to Achromatopsia

Symptoms & Phenotypes for Achromatopsia

Human phenotypes related to Achromatopsia:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the fovea 59 32 occasional (7.5%) Occasional (29-5%) HP:0007750
2 granular macular appearance 59 32 occasional (7.5%) Occasional (29-5%) HP:0007793
3 attenuation of retinal blood vessels 59 32 occasional (7.5%) Occasional (29-5%) HP:0007843
4 blue cone monochromacy 59 32 very rare (1%) Very rare (<4-1%) HP:0007939
5 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
6 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
7 exotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000577
8 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
9 dyschromatopsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007641
10 pendular nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0012043
11 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
12 central scotoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000603
13 monochromacy 59 Very frequent (99-80%)
14 loss of retinal pigment epithelium 59 Occasional (29-5%)
15 retinal pigment epithelial atrophy 32 occasional (7.5%) HP:0007722

UMLS symptoms related to Achromatopsia:


photophobia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.65 OPN1LW
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 9.65 ATF6 CNGA3 OPN1LW
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.65 CNGA3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.65 CNGA3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.65 ATF6
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.65 ATF6
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 9.65 OPN1LW
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.65 CNGA3
9 Increased circadian period length GR00213-A 8.92 ATF6 CNNM4 OPN1LW OPN1MW

MGI Mouse Phenotypes related to Achromatopsia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.4 CNGA3 CNGB3 CNNM4 GNAT2 MFRP NR2E3

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 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
8 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
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 29 PDE6C PDE6H

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

41
Eye, Testes, Cortex

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 209)
# Title Authors Year
1
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
2
Foveal hypoplasia in a patient with achromatopsia. ( 29773314 )
2018
3
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
4
Cerebral achromatopsia secondary to ischemic stroke. ( 29547203 )
2018
5
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia. ( 29618791 )
2018
6
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. ( 29303385 )
2018
7
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature. ( 29257187 )
2017
8
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. ( 28159970 )
2017
9
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia. ( 28715587 )
2017
10
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. ( 28145975 )
2017
11
Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. ( 28241315 )
2017
12
Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep. ( 28478700 )
2017
13
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. ( 28197754 )
2017
14
AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects. ( 28596720 )
2017
15
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. ( 27718025 )
2017
16
Gene therapy for achromatopsia. ( 28095637 )
2017
17
Achromatopsia mutations target sequential steps of ATF6 activation. ( 28028229 )
2017
18
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. ( 28795510 )
2017
19
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
20
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. ( 26427422 )
2016
21
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
22
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26956923 )
2016
23
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. ( 27472364 )
2016
24
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003752 )
2016
25
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. ( 27479814 )
2016
26
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. ( 27820752 )
2016
27
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26950208 )
2016
28
Understanding Cone Photoreceptor Cell Death in Achromatopsia. ( 26427416 )
2016
29
Novel mutations in the gene for I+-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. ( 27040408 )
2016
30
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. ( 27124317 )
2016
31
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003753 )
2016
32
Novel CNGA3 mutations in Chinese patients with achromatopsia. ( 25637600 )
2015
33
Achromatopsia in three sibling Labrador Retrievers in the UK. ( 25752464 )
2015
34
Achromatopsia: on the doorstep of a possible therapy. ( 26304472 )
2015
35
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. ( 25855802 )
2015
36
Mutation of ATF6 causes autosomal recessive achromatopsia. ( 26063662 )
2015
37
Achromatopsia: a review. ( 26196097 )
2015
38
Retinal Development in Infants and Young Children with Achromatopsia. ( 25972256 )
2015
39
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. ( 26493561 )
2015
40
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. ( 26087757 )
2015
41
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ( 25605338 )
2015
42
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. ( 25461672 )
2015
43
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. ( 26567794 )
2015
44
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. ( 25616768 )
2015
45
Achromatopsia caused by novel missense mutations in the CNGA3 gene. ( 26558200 )
2015
46
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. ( 26407004 )
2015
47
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ( 26029869 )
2015
48
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. ( 25204753 )
2014
49
Retinal structure and function in achromatopsia: implications for gene therapy. ( 24148654 )
2014
50
A prospective longitudinal study of retinal structure and function in achromatopsia. ( 25103266 )
2014

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6
(show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh37 Chromosome 2, 99012462: 99012462
2 CNGA3 NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893620 GRCh38 Chromosome 2, 98395999: 98395999
3 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh37 Chromosome 2, 99012939: 99012939
4 CNGA3 NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp) single nucleotide variant Pathogenic rs104893621 GRCh38 Chromosome 2, 98396476: 98396476
5 CNGB3 NM_019098.4(CNGB3): c.2264A> G (p.Glu755Gly) single nucleotide variant Benign/Likely benign rs3735972 GRCh37 Chromosome 8, 87588198: 87588198
6 CNGB3 NM_019098.4(CNGB3): c.2264A> G (p.Glu755Gly) single nucleotide variant Benign/Likely benign rs3735972 GRCh38 Chromosome 8, 86575970: 86575970
7 CNGB3 NM_019098.4(CNGB3): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs3735970 GRCh37 Chromosome 8, 87588248: 87588248
8 CNGB3 NM_019098.4(CNGB3): c.2214A> G (p.Glu738=) single nucleotide variant Benign/Likely benign rs3735970 GRCh38 Chromosome 8, 86576020: 86576020
9 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh38 Chromosome 8, 86625982: 86625982
10 CNGB3 NM_019098.4(CNGB3): c.1578+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs372006750 GRCh37 Chromosome 8, 87638210: 87638210
11 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh38 Chromosome 8, 86743516: 86743516
12 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh37 Chromosome 8, 87755744: 87755744
13 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh37 Chromosome 1, 110153101: 110153101
14 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh38 Chromosome 1, 109610479: 109610479
15 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh37 Chromosome 1, 110151344: 110151344
16 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh38 Chromosome 1, 109608722: 109608722
17 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh37 Chromosome 10, 95381707: 95381707
18 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh38 Chromosome 10, 93621950: 93621950
19 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh37 Chromosome 1, 110146108: 110146108
20 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh38 Chromosome 1, 109603486: 109603486
21 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh37 Chromosome 1, 110148974: 110148974
22 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh38 Chromosome 1, 109606352: 109606352
23 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Likely benign rs3738766 GRCh38 Chromosome 1, 109608773: 109608773
24 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Likely benign rs3738766 GRCh37 Chromosome 1, 110151395: 110151395
25 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Likely benign rs2304355 GRCh38 Chromosome 1, 109612902: 109612902
26 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Likely benign rs2304355 GRCh37 Chromosome 1, 110155524: 110155524
27 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Likely benign rs6727412 GRCh37 Chromosome 2, 98986510: 98986510
28 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Likely benign rs6727412 GRCh38 Chromosome 2, 98370047: 98370047
29 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Likely benign rs7000747 GRCh38 Chromosome 8, 86604083: 86604083
30 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Likely benign rs7000747 GRCh37 Chromosome 8, 87616311: 87616311
31 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Likely benign rs34839859 GRCh37 Chromosome 8, 87641271: 87641271
32 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Likely benign rs34839859 GRCh38 Chromosome 8, 86629043: 86629043
33 CNGB3 NM_019098.4(CNGB3): c.919A> G (p.Ile307Val) single nucleotide variant Benign/Likely benign rs13265557 GRCh38 Chromosome 8, 86647872: 86647872
34 CNGB3 NM_019098.4(CNGB3): c.919A> G (p.Ile307Val) single nucleotide variant Benign/Likely benign rs13265557 GRCh37 Chromosome 8, 87660100: 87660100
35 CNGB3 NM_019098.4(CNGB3): c.702T> G (p.Cys234Trp) single nucleotide variant Benign rs6471482 GRCh37 Chromosome 8, 87679303: 87679303
36 CNGB3 NM_019098.4(CNGB3): c.702T> G (p.Cys234Trp) single nucleotide variant Benign rs6471482 GRCh38 Chromosome 8, 86667075: 86667075
37 CNGB3 NM_019098.4(CNGB3): c.608G> A (p.Arg203Gln) single nucleotide variant Likely benign rs16916632 GRCh37 Chromosome 8, 87680282: 87680282
38 CNGB3 NM_019098.4(CNGB3): c.608G> A (p.Arg203Gln) single nucleotide variant Likely benign rs16916632 GRCh38 Chromosome 8, 86668054: 86668054
39 CNGB3 NM_019098.4(CNGB3): c.339-10dupT duplication Uncertain significance rs200792506 GRCh38 Chromosome 8, 86671108: 86671108
40 CNGB3 NM_019098.4(CNGB3): c.339-10dupT duplication Uncertain significance rs200792506 GRCh37 Chromosome 8, 87683336: 87683336
41 CNGB3 NM_019098.4(CNGB3): c.211+13T> G single nucleotide variant Likely benign rs66881636 GRCh38 Chromosome 8, 86739642: 86739642
42 CNGB3 NM_019098.4(CNGB3): c.211+13T> G single nucleotide variant Likely benign rs66881636 GRCh37 Chromosome 8, 87751870: 87751870
43 PDE6C NM_006204.3(PDE6C): c.203C> T (p.Thr68Ile) single nucleotide variant Uncertain significance rs62642544 GRCh38 Chromosome 10, 93612928: 93612928
44 PDE6C NM_006204.3(PDE6C): c.203C> T (p.Thr68Ile) single nucleotide variant Uncertain significance rs62642544 GRCh37 Chromosome 10, 95372685: 95372685
45 PDE6C NM_006204.3(PDE6C): c.808T> A (p.Ser270Thr) single nucleotide variant Benign rs701865 GRCh38 Chromosome 10, 93622016: 93622016
46 PDE6C NM_006204.3(PDE6C): c.808T> A (p.Ser270Thr) single nucleotide variant Benign rs701865 GRCh37 Chromosome 10, 95381773: 95381773
47 PDE6C NM_006204.3(PDE6C): c.1098G> A (p.Ala366=) single nucleotide variant Benign rs714550 GRCh38 Chromosome 10, 93629284: 93629284
48 PDE6C NM_006204.3(PDE6C): c.1098G> A (p.Ala366=) single nucleotide variant Benign rs714550 GRCh37 Chromosome 10, 95389041: 95389041
49 PDE6C NM_006204.3(PDE6C): c.1270-9C> T single nucleotide variant Likely benign rs11187564 GRCh38 Chromosome 10, 93635488: 93635488
50 PDE6C NM_006204.3(PDE6C): c.1270-9C> T single nucleotide variant Likely benign rs11187564 GRCh37 Chromosome 10, 95395245: 95395245

Expression for Achromatopsia

Search GEO for disease gene expression data for Achromatopsia.

Pathways for Achromatopsia

Pathways related to Achromatopsia according to KEGG:

37
# 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 9.33 OPN1LW OPN1MW OPN1SW
2 photoreceptor outer segment membrane GO:0042622 9.26 CNGA3 GNAT2
3 photoreceptor outer segment GO:0001750 9.17 CNGB1 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW
4 transmembrane transporter complex GO:1902495 9.13 CNGA3 CNGB1 CNGB3

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 CNGA3 CNGB1 CNGB3 CNNM4 SLC38A8
2 visual perception GO:0007601 9.83 ATF6 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2
3 potassium ion transmembrane transport GO:0071805 9.74 CNGA3 CNGB1 CNGB3
4 regulation of membrane potential GO:0042391 9.72 CNGA3 CNGB1 CNGB3
5 cation transport GO:0006812 9.69 CNGA3 CNGB1 CNGB3
6 cation transmembrane transport GO:0098655 9.67 CNGA3 CNGB1 CNGB3
7 retinoid metabolic process GO:0001523 9.63 OPN1LW OPN1MW OPN1SW
8 phototransduction GO:0007602 9.63 CNGB1 GNAT2 NR2E3 OPN1LW OPN1MW OPN1SW
9 protein-chromophore linkage GO:0018298 9.58 OPN1LW OPN1MW OPN1SW
10 eye photoreceptor cell development GO:0042462 9.54 MFRP NR2E3
11 cellular response to light stimulus GO:0071482 9.54 OPN1LW OPN1MW OPN1SW
12 detection of light stimulus involved in visual perception GO:0050908 9.52 CNGB1 GNAT2
13 retinal cone cell development GO:0046549 9.5 DIO3 GNAT2 PDE6C
14 response to stimulus GO:0050896 9.44 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2 NR2E3
15 positive regulation of rhodopsin gene expression GO:0045872 9.43 NR2E3 NRL
16 detection of visible light GO:0009584 9.43 OPN1LW OPN1MW OPN1SW
17 signal transduction GO:0007165 10.13 ATF6 CNGA3 CNGB3 GNAT2 NR2E3 OPN1LW

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

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 9.78 GNAT2 OPN1LW OPN1MW OPN1SW
2 voltage-gated potassium channel activity GO:0005249 9.58 CNGA3 CNGB1 CNGB3
3 photoreceptor activity GO:0009881 9.5 OPN1LW OPN1MW OPN1SW
4 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.46 PDE6C PDE6H
5 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.43 PDE6C PDE6H
6 intracellular cAMP activated cation channel activity GO:0005222 9.43 CNGA3 CNGB1 CNGB3
7 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.37 CNGB1 CNGB3
8 intracellular cGMP activated cation channel activity GO:0005223 9.33 CNGA3 CNGB1 CNGB3
9 G-protein coupled photoreceptor activity GO:0008020 9.26 GNAT2 OPN1LW OPN1MW OPN1SW
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 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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