MCID: ACH003
MIFTS: 57

Achromatopsia

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Achromatopsia

MalaCards integrated aliases for Achromatopsia:

Name: Achromatopsia 37 12 72 23 24 55 36 28 51 14 69
Total Color Blindness 24 55
Rod Monochromatism 24 55
Achm 12 55
Complete or Incomplete Color Blindness 55
Pingelapese Blindness 55
Rod Monochromacy 55
Achromatopsia 2 69
Achromatopsia 3 69
Achromatopsia 1 69
Monochromatism 12
Achromatism 24

Characteristics:

Orphanet epidemiological data:

55
achromatopsia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13911
ICD10 32 H53.51
ICD9CM 34 368.54
MeSH 41 D003117
NCIt 46 C84528
SNOMED-CT 64 56852002
Orphanet 55 ORPHA49382
UMLS via Orphanet 70 C0152200
ICD10 via Orphanet 33 H53.5
KEGG 36 H00971

Summaries for Achromatopsia

Genetics Home Reference : 24 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 hypoplasia of the fovea, granular macular appearance and attenuation of retinal blood vessels. 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, cortex and testes, and related phenotypes are Increased circadian period length and nervous system

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 : 72 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 59)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 2 34.3 CNGA3 CNGB3 MFRP
2 achromatopsia 4 34.3 CNGA3 CNGB3 GNAT2
3 achromatopsia 3 34.0 CNGA3 CNGB3 GNAT2 RPE65
4 blue cone monochromacy 32.8 CNGA3 CNGB3 OPN1LW OPN1MW OPSIN-LCR
5 color blindness 31.1 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW
6 cone-rod dystrophy 6 30.0 CNGA3 CNGB3 GNAT2 PDE6C RPGR
7 jalili syndrome 29.9 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
8 cone dystrophy 29.6 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H
9 cone-rod dystrophy 2 29.5 CNGB3 CNNM4 GNAT2 PDE6C RPE65 RPGR
10 myopia 29.4 MFRP OPN1LW OPN1MW RPGR
11 retinal disease 29.4 CNGA3 CNGB1 CNGB3 NRL RPE65 RPGR
12 retinitis pigmentosa 28.4 ATF6 CNGA3 CNGB1 MFRP NR2E3 NRL
13 achromatopsia 7 12.3
14 cone dystrophy 4 11.7
15 retinal cone dystrophy 3a 11.2
16 foveal hypoplasia 1 10.9
17 nystagmus 1, congenital, x-linked 10.9
18 foveal hypoplasia 2 10.9
19 oligocone trichromacy 10.4 CNGA3 CNGB3 GNAT2 PDE6C
20 cerebritis 10.4
21 retinitis pigmentosa 44 10.3 CNGA3 CNGB3 RPGR
22 retinitis 10.3
23 color vision deficiency 10.3 OPN1LW OPN1MW OPSIN-LCR
24 pathologic nystagmus 10.3 CNGA3 GNAT2 SLC38A8
25 retinitis pigmentosa 26 10.3 CNGA3 CNGB3 RPGR
26 colorblindness, partial, protan series 10.3 CNGB3 OPN1LW OPN1MW
27 goldmann-favre syndrome 10.2 NR2E3 NRL
28 enhanced s-cone syndrome 10.2 CNGA3 MFRP NR2E3 NRL
29 rhyns syndrome 10.2 CNGB1 RPE65 RPGR
30 stargardt disease 10.1 CNGB3 GNAT2 RPE65 RPGR
31 red-green color blindness 10.1 CNGB3 OPN1LW OPN1MW RPE65
32 amblyopia 10.1
33 choroid disease 10.0 CNGB3 RPE65
34 congenital stationary night blindness 10.0 CNGB3 GNAZ RPE65 RPGR
35 neuronitis 10.0
36 leber congenital amaurosis 4 9.9
37 night blindness 9.9
38 retinal degeneration 9.8 MFRP NR2E3 NRL RPE65 RPGR
39 choroiditis 9.8
40 dementia 9.8
41 central serous chorioretinopathy 9.8
42 corticobasal degeneration 9.8
43 leber congenital amaurosis 9.8 CNGA3 CNGB3 MFRP NRL RPE65 RPGR
44 alzheimer disease 9.8
45 blood group, i system 9.8
46 migraine with or without aura 1 9.8
47 aging 9.8
48 macular degeneration, age-related, 1 9.8
49 glass syndrome 9.8
50 night blindness, congenital stationary, type 1e 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:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the fovea 55 31 occasional (7.5%) Occasional (29-5%) HP:0007750
2 granular macular appearance 55 31 occasional (7.5%) Occasional (29-5%) HP:0007793
3 attenuation of retinal blood vessels 55 31 occasional (7.5%) Occasional (29-5%) HP:0007843
4 blue cone monochromacy 55 31 very rare (1%) Very rare (<4-1%) HP:0007939
5 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
6 abnormal electroretinogram 55 31 hallmark (90%) Very frequent (99-80%) HP:0000512
7 exotropia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000577
8 photophobia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000613
9 dyschromatopsia 55 31 hallmark (90%) Very frequent (99-80%) HP:0007641
10 pendular nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0012043
11 hypermetropia 55 31 frequent (33%) Frequent (79-30%) HP:0000540
12 central scotoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000603
13 monochromacy 55 Very frequent (99-80%)
14 loss of retinal pigment epithelium 55 Occasional (29-5%)
15 retinal pigment epithelial atrophy 31 occasional (7.5%) HP:0007722

UMLS symptoms related to Achromatopsia:


photophobia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased circadian period length GR00213-A 8.92 ATF6 CNNM4 OPN1LW OPN1MW

MGI Mouse Phenotypes related to Achromatopsia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.7 CNGA3 CNGB3 GNAT2 GNAZ MFRP NR2E3
2 vision/eye MP:0005391 9.44 OPN1LW OPN1SW PDE6C PDE6H RPE65 RPGR

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 28 PDE6C PDE6H

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

38
Eye, Cortex, Testes

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 202)
# Title Authors Year
1
Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. ( 29303385 )
2018
2
Design and Development of AAV-based Gene Supplementation Therapies for Achromatopsia and Retinitis Pigmentosa. ( 29188504 )
2018
3
A Quantitative and Qualitative Exploration of Photoaversion in Achromatopsia. ( 28715587 )
2017
4
Gene therapy for achromatopsia. ( 28095637 )
2017
5
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. ( 28145975 )
2017
6
Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep. ( 28478700 )
2017
7
Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. ( 28241315 )
2017
8
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. ( 28197754 )
2017
9
Achromatopsia mutations target sequential steps of ATF6 activation. ( 28028229 )
2017
10
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. ( 27718025 )
2017
11
AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects. ( 28596720 )
2017
12
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. ( 28159970 )
2017
13
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. ( 28795510 )
2017
14
Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature. ( 29257187 )
2017
15
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
16
Understanding Cone Photoreceptor Cell Death in Achromatopsia. ( 26427416 )
2016
17
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003753 )
2016
18
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. ( 26427422 )
2016
19
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003752 )
2016
20
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26950208 )
2016
21
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. ( 27820752 )
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
Novel mutations in the gene for I+-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. ( 27040408 )
2016
25
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. ( 27124317 )
2016
26
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
27
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. ( 27479814 )
2016
28
Achromatopsia: a review. ( 26196097 )
2015
29
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ( 25605338 )
2015
30
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. ( 26493561 )
2015
31
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. ( 25616768 )
2015
32
Achromatopsia in three sibling Labrador Retrievers in the UK. ( 25752464 )
2015
33
Mutation of ATF6 causes autosomal recessive achromatopsia. ( 26063662 )
2015
34
Achromatopsia: on the doorstep of a possible therapy. ( 26304472 )
2015
35
Achromatopsia caused by novel missense mutations in the CNGA3 gene. ( 26558200 )
2015
36
Novel CNGA3 mutations in Chinese patients with achromatopsia. ( 25637600 )
2015
37
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ( 26029869 )
2015
38
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. ( 26407004 )
2015
39
Retinal Development in Infants and Young Children with Achromatopsia. ( 25972256 )
2015
40
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. ( 25855802 )
2015
41
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. ( 26087757 )
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
Retinal structure and function in achromatopsia: implications for gene therapy. ( 24148654 )
2014
45
Re: Sundaram et al.: Retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). ( 24793525 )
2014
46
Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography. ( 24995800 )
2014
47
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. ( 24504161 )
2014
48
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. ( 24903488 )
2014
49
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. ( 25277229 )
2014
50
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. ( 25168900 )
2014

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNGA3 NM_001298.2(CNGA3): c.67C> T (p.Arg23Ter) single nucleotide variant Likely pathogenic rs777509481 GRCh38 Chromosome 2, 98370042: 98370042

Expression for Achromatopsia

Search GEO for disease gene expression data for Achromatopsia.

Pathways for Achromatopsia

Pathways related to Achromatopsia according to KEGG:

36
# 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 18)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 CNGA3 CNGB1 CNGB3 CNNM4 SLC38A8
2 visual perception GO:0007601 9.86 ATF6 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2
3 potassium ion transmembrane transport GO:0071805 9.75 CNGA3 CNGB1 CNGB3
4 regulation of membrane potential GO:0042391 9.72 CNGA3 CNGB1 CNGB3
5 cation transmembrane transport GO:0098655 9.71 CNGA3 CNGB1 CNGB3
6 cation transport GO:0006812 9.7 CNGA3 CNGB1 CNGB3
7 retina development in camera-type eye GO:0060041 9.69 MFRP NR2E3 RPE65
8 retinoid metabolic process GO:0001523 9.67 OPN1LW OPN1MW OPN1SW RPE65
9 phototransduction GO:0007602 9.63 CNGB1 GNAT2 NR2E3 OPN1LW OPN1MW OPN1SW
10 detection of light stimulus involved in visual perception GO:0050908 9.61 CNGB1 GNAT2 RPE65
11 protein-chromophore linkage GO:0018298 9.58 OPN1LW OPN1MW OPN1SW
12 eye photoreceptor cell development GO:0042462 9.56 MFRP NR2E3
13 detection of visible light GO:0009584 9.5 OPN1LW OPN1MW OPN1SW
14 regulation of rhodopsin gene expression GO:0007468 9.48 NRL RPE65
15 response to stimulus GO:0050896 9.47 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2 NR2E3
16 positive regulation of rhodopsin gene expression GO:0045872 9.46 NR2E3 NRL
17 retinal cone cell development GO:0046549 9.43 DIO3 GNAT2 PDE6C
18 signal transduction GO:0007165 10.19 ATF6 CNGA3 CNGB3 GNAT2 GNAZ NR2E3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.77 GNAT2 GNAZ OPN1LW OPN1MW OPN1SW
2 voltage-gated potassium channel activity GO:0005249 9.58 CNGA3 CNGB1 CNGB3
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.49 GNAT2 GNAZ
4 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.48 PDE6C PDE6H
5 guanyl nucleotide binding GO:0019001 9.46 GNAT2 GNAZ
6 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.43 PDE6C PDE6H
7 photoreceptor activity GO:0009881 9.43 OPN1LW OPN1MW OPN1SW
8 intracellular cGMP activated cation channel activity GO:0005223 9.33 CNGA3 CNGB1 CNGB3
9 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.32 CNGB1 CNGB3
10 G-protein coupled photoreceptor activity GO:0008020 9.26 GNAT2 OPN1LW OPN1MW OPN1SW
11 cGMP binding GO:0030553 9.02 CNGA3 CNGB1 CNGB3 PDE6C PDE6H

Sources for Achromatopsia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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