ACHM
MCID: ACH003
MIFTS: 59

Achromatopsia (ACHM)

Categories: Eye diseases, Genetic diseases, Rare 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 PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. Affiliated tissues include eye, retina and testes, 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 : 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 86)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 2 34.3 CNGA3 CNGB3 MFRP
2 achromatopsia 4 34.1 CNGA3 CNGB3 GNAT2
3 achromatopsia 3 34.1 CNGA3 CNGB3 GNAT2
4 achromatopsia 7 34.0 ATF6 LOC102724329
5 blue cone monochromacy 33.0 CNGA3 CNGB3 OPN1LW OPN1MW OPSIN-LCR
6 retinal cone dystrophy 3a 32.4 LOC105369670 PDE6H
7 color blindness 31.0 CNGA3 CNGB3 GNAT2 MFRP OPN1LW OPN1MW
8 cone dystrophy 30.3 CNGB3 OPN1LW OPN1MW PDE6C PDE6H RPGR
9 color vision deficiency 30.2 CNGA3 NR2E3 OPN1LW OPN1MW OPSIN-LCR
10 jalili syndrome 30.1 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
11 retinal disease 30.1 CNGB1 CNGB3 NRL RPGR
12 myopia 29.9 MFRP OPN1LW OPN1MW RPGR
13 retinitis pigmentosa 29.6 ATF6 CNGA3 CNGB1 MFRP NR2E3 NRL
14 cone dystrophy 4 11.9
15 foveal hypoplasia 1 11.0
16 tritanopia 11.0
17 nystagmus 1, congenital, x-linked 11.0
18 foveal hypoplasia 2 11.0
19 amblyopia 10.3
20 cone-rod dystrophy 8 10.3 CNGA3 CNGB3 GNAT2
21 cone-rod dystrophy 9 10.2 CNGA3 CNGB3 GNAT2
22 cone dystrophy 3 10.2 LOC105369670 PDE6H
23 retinitis pigmentosa 44 10.2 CNGA3 CNGB3 RPGR
24 oligocone trichromacy 10.2 CNGA3 CNGB3 GNAT2 PDE6C
25 retinitis pigmentosa 26 10.2 CNGA3 CNGB3 RPGR
26 choroid disease 10.2 CNGB3 RPGR
27 colorblindness, partial, protan series 10.2 CNGB3 OPN1LW OPN1MW
28 red-green color blindness 10.2 CNGB3 OPN1LW OPN1MW
29 stargardt disease 10.2 CNGB3 GNAT2 PDE6H RPGR
30 goldmann-favre syndrome 10.2 NR2E3 NRL
31 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
32 pathologic nystagmus 10.2 CNGA3 CNGB3 GNAT2 SLC38A8
33 enhanced s-cone syndrome 10.1 CNGA3 NR2E3 NRL
34 leber congenital amaurosis 4 10.1
35 retinitis 10.1
36 cystic kidney disease 10.1
37 cone-rod dystrophy, x-linked, 2 10.1 OPN1LW RPGR
38 cone-rod dystrophy 6 10.1 CNGA3 CNGB3 GNAT2 PDE6C PDE6H RPGR
39 stargardt disease 1 10.1 CNGB3 GNAT2
40 cone-rod dystrophy 2 10.1 GNAT2 NR2E3 RPGR
41 dermatitis 10.0
42 neuropathy 10.0
43 retinal degeneration 10.0 MFRP NR2E3 NRL RPGR
44 sturge-weber syndrome 10.0
45 3-methylglutaconic aciduria, type iii 10.0
46 cytomegalovirus retinitis 10.0
47 dementia 10.0
48 dyslexia 10.0
49 central serous chorioretinopathy 10.0
50 corticobasal degeneration 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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000613
2 abnormal electroretinogram 59 32 hallmark (90%) Very frequent (99-80%) HP:0000512
3 central scotoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000603
4 blue cone monochromacy 59 32 very rare (1%) Very rare (<4-1%) HP:0007939
5 hypoplasia of the fovea 59 32 occasional (7.5%) Occasional (29-5%) HP:0007750
6 exotropia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000577
7 hypermetropia 59 32 frequent (33%) Frequent (79-30%) HP:0000540
8 dyschromatopsia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007641
9 attenuation of retinal blood vessels 59 32 occasional (7.5%) Occasional (29-5%) HP:0007843
10 pendular nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0012043
11 granular macular appearance 59 32 occasional (7.5%) Occasional (29-5%) HP:0007793
12 visual impairment 59 Very frequent (99-80%)
13 loss of retinal pigment epithelium 59 Occasional (29-5%)
14 monochromacy 59 Very frequent (99-80%)
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 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 29 PDE6C PDE6H

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

41
Eye, Retina, Testes, Cortex, Kidney

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 220)
# 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
Novel causative variants in patients with achromatopsia. ( 30289319 )
2018
8
Deep learning based detection of cone photoreceptors with multimodal adaptive optics scanning light ophthalmoscope images of achromatopsia. ( 30338152 )
2018
9
Longitudinal Assessment of Retinal Structure in Achromatopsia Patients With Long-Term Follow-up. ( 30513534 )
2018
10
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. ( 30080950 )
2018
11
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
12
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature. ( 29257187 )
2017
13
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. ( 28159970 )
2017
14
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia. ( 28715587 )
2017
15
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. ( 28145975 )
2017
16
Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. ( 28241315 )
2017
17
Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep. ( 28478700 )
2017
18
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. ( 28197754 )
2017
19
AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects. ( 28596720 )
2017
20
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. ( 27718025 )
2017
21
Gene therapy for achromatopsia. ( 28095637 )
2017
22
Achromatopsia mutations target sequential steps of ATF6 activation. ( 28028229 )
2017
23
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. ( 28795510 )
2017
24
Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia. ( 29131863 )
2017
25
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
26
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. ( 26427422 )
2016
27
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
28
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26956923 )
2016
29
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. ( 27472364 )
2016
30
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003752 )
2016
31
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. ( 27479814 )
2016
32
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. ( 27820752 )
2016
33
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26950208 )
2016
34
Understanding Cone Photoreceptor Cell Death in Achromatopsia. ( 26427416 )
2016
35
Novel mutations in the gene for I+-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. ( 27040408 )
2016
36
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. ( 27124317 )
2016
37
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003753 )
2016
38
CNGB3-Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function. ( 25737149 )
2015
39
Novel CNGA3 mutations in Chinese patients with achromatopsia. ( 25637600 )
2015
40
Achromatopsia in three sibling Labrador Retrievers in the UK. ( 25752464 )
2015
41
Achromatopsia: on the doorstep of a possible therapy. ( 26304472 )
2015
42
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. ( 25855802 )
2015
43
Mutation of ATF6 causes autosomal recessive achromatopsia. ( 26063662 )
2015
44
Achromatopsia: a review. ( 26196097 )
2015
45
Retinal Development in Infants and Young Children with Achromatopsia. ( 25972256 )
2015
46
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. ( 26493561 )
2015
47
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. ( 26087757 )
2015
48
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ( 25605338 )
2015
49
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. ( 25461672 )
2015
50
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. ( 26567794 )
2015

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6 (show top 50) (show all 409)
# 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.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh38 Chromosome 8, 86743516: 86743516
27 CNGB3 NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204498 GRCh37 Chromosome 8, 87755744: 87755744
28 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh37 Chromosome 1, 110153101: 110153101
29 GNAT2 NM_005272.3(GNAT2): c.147C> T (p.Ile49=) single nucleotide variant Conflicting interpretations of pathogenicity rs146945932 GRCh38 Chromosome 1, 109610479: 109610479
30 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh37 Chromosome 1, 110151344: 110151344
31 GNAT2 NM_005272.3(GNAT2): c.370G> A (p.Val124Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41280330 GRCh38 Chromosome 1, 109608722: 109608722
32 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh37 Chromosome 10, 95381707: 95381707
33 PDE6C NM_006204.3(PDE6C): c.742A> G (p.Asn248Asp) single nucleotide variant Uncertain significance rs140524715 GRCh38 Chromosome 10, 93621950: 93621950
34 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh37 Chromosome 1, 110146108: 110146108
35 GNAT2 NM_005272.3(GNAT2): c.933T> C (p.Asn311=) single nucleotide variant Conflicting interpretations of pathogenicity rs34723289 GRCh38 Chromosome 1, 109603486: 109603486
36 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh37 Chromosome 1, 110148974: 110148974
37 GNAT2 NM_005272.3(GNAT2): c.546G> A (p.Thr182=) single nucleotide variant Benign rs1799875 GRCh38 Chromosome 1, 109606352: 109606352
38 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Benign/Likely benign rs3738766 GRCh38 Chromosome 1, 109608773: 109608773
39 GNAT2 NM_005272.3(GNAT2): c.319C> A (p.Leu107Ile) single nucleotide variant Benign/Likely benign rs3738766 GRCh37 Chromosome 1, 110151395: 110151395
40 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Benign/Likely benign rs2304355 GRCh38 Chromosome 1, 109612902: 109612902
41 GNAT2 NM_005272.3(GNAT2): c.-32A> G single nucleotide variant Benign/Likely benign rs2304355 GRCh37 Chromosome 1, 110155524: 110155524
42 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Benign/Likely benign rs6727412 GRCh37 Chromosome 2, 98986510: 98986510
43 CNGA3 NM_001298.2(CNGA3): c.72T> C (p.Asp24=) single nucleotide variant Benign/Likely benign rs6727412 GRCh38 Chromosome 2, 98370047: 98370047
44 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Benign/Likely benign rs7000747 GRCh37 Chromosome 8, 87616311: 87616311
45 CNGB3 NM_019098.4(CNGB3): c.1781+10A> T single nucleotide variant Benign/Likely benign rs7000747 GRCh38 Chromosome 8, 86604083: 86604083
46 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Benign/Likely benign rs34839859 GRCh37 Chromosome 8, 87641271: 87641271
47 CNGB3 NM_019098.4(CNGB3): c.1356G> A (p.Gln452=) single nucleotide variant Benign/Likely benign rs34839859 GRCh38 Chromosome 8, 86629043: 86629043
48 CNGB3 NM_019098.4(CNGB3): c.919A> G (p.Ile307Val) single nucleotide variant Benign/Likely benign rs13265557 GRCh38 Chromosome 8, 86647872: 86647872
49 CNGB3 NM_019098.4(CNGB3): c.919A> G (p.Ile307Val) single nucleotide variant Benign/Likely benign rs13265557 GRCh37 Chromosome 8, 87660100: 87660100
50 CNGB3 NM_019098.4(CNGB3): c.702T> G (p.Cys234Trp) single nucleotide variant Benign rs6471482 GRCh37 Chromosome 8, 87679303: 87679303

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 GO:0001750 9.17 CNGB1 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW
3 transmembrane transporter complex GO:1902495 9.13 CNGA3 CNGB1 CNGB3

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 9.67 CNGA3 CNGB1 CNGB3
4 retinoid metabolic process GO:0001523 9.65 OPN1LW OPN1MW OPN1SW
5 phototransduction GO:0007602 9.63 CNGB1 GNAT2 NR2E3 OPN1LW OPN1MW OPN1SW
6 cellular response to light stimulus GO:0071482 9.58 OPN1LW OPN1MW OPN1SW
7 protein-chromophore linkage GO:0018298 9.54 OPN1LW OPN1MW OPN1SW
8 eye photoreceptor cell development GO:0042462 9.52 MFRP NR2E3
9 detection of light stimulus involved in visual perception GO:0050908 9.51 CNGB1 GNAT2
10 detection of visible light GO:0009584 9.5 OPN1LW OPN1MW OPN1SW
11 response to stimulus GO:0050896 9.44 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2 NR2E3
12 positive regulation of rhodopsin gene expression GO:0045872 9.43 NR2E3 NRL
13 retinal cone cell development GO:0046549 9.43 DIO3 GNAT2 PDE6C
14 signal transduction GO:0007165 10.11 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 photoreceptor activity GO:0009881 9.5 OPN1LW OPN1MW OPN1SW
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.43 PDE6C PDE6H
3 intracellular cAMP-activated cation channel activity GO:0005222 9.43 CNGA3 CNGB1 CNGB3
4 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.4 PDE6C PDE6H
5 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.37 CNGB1 CNGB3
6 intracellular cGMP-activated cation channel activity GO:0005223 9.33 CNGA3 CNGB1 CNGB3
7 G protein-coupled photoreceptor activity GO:0008020 9.26 GNAT2 OPN1LW OPN1MW OPN1SW
8 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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