ACHM
MCID: ACH003
MIFTS: 55

Achromatopsia (ACHM) malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia

Aliases & Descriptions for Achromatopsia:

Name: Achromatopsia 38 12 23 24 25 56 29 52 14 69
Total Color Blindness 24 25 56
Rod Monochromatism 24 25 56
Rod Monochromacy 24 56
Achm 12 56
Complete or Incomplete Color Blindness 56
Pingelapese Blindness 56
Achromatopsia 2 69
Achromatopsia 3 69
Achromatopsia 1 69
Monochromatism 12
Achromatism 25

Characteristics:

Orphanet epidemiological data:

56
achromatopsia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13911
ICD10 33 H53.51
ICD9CM 35 368.54
MeSH 42 D003117
NCIt 47 C84528
SNOMED-CT 64 56852002
Orphanet 56 ORPHA49382
UMLS via Orphanet 70 C0152200
ICD10 via Orphanet 34 H53.5
UMLS 69 C0152200

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 7 and achromatopsia 5, and has symptoms including photophobia, visual impairment and abnormal electroretinogram. An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Phototransduction. 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 : 71 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-4 Achromatopsia 7
Achromatopsia-2 Achromatopsia-3
Achromatopsia 5

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

(show top 50) (show all 62)
id Related Disease Score Top Affiliating Genes
1 achromatopsia 7 12.2
2 achromatopsia 5 11.8
3 achromatopsia-2 11.8
4 achromatopsia-3 11.7
5 achromatopsia-4 11.7
6 blue cone monochromacy 11.6
7 color blindness 11.3
8 retinal cone dystrophy 3 11.1
9 foveal hypoplasia 1 10.7
10 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 10.7
11 nystagmus 1, congenital, x-linked 10.7
12 lacrimal duct defect 10.3 CNGA3 CNGB3 GNAT2
13 cerebritis 10.3
14 celiac disease 8 10.3 CNGA3 CNGB3 MFRP
15 inflammatory bowel disease 20 10.3 CNGA3 CNGB3 RPGR
16 familial isolated restrictive cardiomyopathy 10.2 CNGA3 CNGB3 GNAT2 PDE6C
17 retinitis 10.2
18 dystonia 16 10.2 CNGA3 CNGB3 RPGR
19 somatization disorder 10.2 CNGB3 OPN1LW OPN1MW
20 yellow fever 10.2 CNGA3 GNAT2 SLC38A8
21 colorblindness, deutan 10.2 CNGB3 OPN1LW
22 tay-sachs disease 10.2 CNGA3 NR2E3 NRL
23 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.2 CNGA3 CNGB3 GNAT2 RPE65
24 retinitis pigmentosa 34 10.2 CNGB3 OPN1MW RPE65
25 arthrogryposis, distal, type 2a 10.2 CNGA3 CNGB3 GNAT2 PDE6C RPGR
26 granulomas, congenital cerebral 10.2 NR2E3 NRL
27 lipoyltransferase 1 deficiency 10.1 CNGA3 CNGB3 CNNM4 GNAT2 PDE6C
28 tendinosis 10.1 CNGB3 GNAT2 RPE65 RPGR
29 waisman syndrome 10.1 CNGA3 CNGB3 OPN1LW OPN1MW OPSIN-LCR
30 lumbosacral plexus lesion 10.1 CNGB3 OPN1LW OPN1MW RPE65
31 puerperal pulmonary embolism 10.1 CNGB3 MFRP RPE65 RPGR
32 stxbp1 encephalopathy with epilepsy 10.0 OPN1LW OPN1MW
33 adult liposarcoma 10.0 CNGA3 CNGB3 NRL RPE65 RPGR
34 charcot-marie-tooth disease intermediate type 10.0 CNGB3 GNAZ RPE65 RPGR
35 van buchem disease 10.0 CNNM4 GNAT2 RPE65 RPGR
36 amblyopia 10.0
37 liver cirrhosis 9.9 CNGA3 MFRP NRL RPE65 RPGR
38 glioblastoma classical subtype 9.9 CNGB3 MFRP OPN1LW OPN1MW PDE6C PDE6H
39 polyhydramnios 9.9 MFRP NRL RPE65 RPGR
40 neuronitis 9.9
41 cone dystrophy 9.8
42 night blindness 9.8
43 central serous chorioretinopathy 9.7
44 corticobasal degeneration 9.7
45 dementia 9.7
46 dyslexia 9.7
47 angioid streaks 9.7 CNGA3 CNGB3 CNNM4 GNAT2 MFRP OPN1LW
48 retinitis pigmentosa 9.7
49 congenital nystagmus 9.7
50 refractive error 9.7

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to Achromatopsia

Symptoms & Phenotypes for Achromatopsia

Human phenotypes related to Achromatopsia:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Very frequent (99-80%) HP:0000613
2 visual impairment 56 32 Very frequent (99-80%) HP:0000505
3 abnormal electroretinogram 56 32 Very frequent (99-80%) HP:0000512
4 central scotoma 56 32 Occasional (29-5%) HP:0000603
5 blue cone monochromacy 56 32 Very rare (<4-1%) HP:0007939
6 hypoplasia of the fovea 56 32 Occasional (29-5%) HP:0007750
7 exotropia 56 32 Very frequent (99-80%) HP:0000577
8 hypermetropia 56 32 Frequent (79-30%) HP:0000540
9 dyschromatopsia 56 32 Very frequent (99-80%) HP:0007641
10 attenuation of retinal blood vessels 56 32 Occasional (29-5%) HP:0007843
11 granular macular appearance 56 32 Occasional (29-5%) HP:0007793
12 pendular nystagmus 56 32 Very frequent (99-80%) HP:0012043
13 loss of retinal pigment epithelium 56 Occasional (29-5%)
14 monochromacy 56 Very frequent (99-80%)
15 retinal pigment epithelial atrophy 32 HP:0007722

UMLS symptoms related to Achromatopsia:


photophobia

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

26
id 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:

44
id 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 RPE65 RPGR CNGA3 CNGB3 CNNM4 GNAT2

Drugs & Therapeutics for Achromatopsia

Interventional clinical trials:


id Name Status NCT ID Phase
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 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia Recruiting NCT02599922 Phase 1, Phase 2
4 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
5 Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia Not yet recruiting NCT02935517 Phase 1, Phase 2
6 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
7 Clinical and Genetic Characterization of Individuals With Achromatopsia Active, not recruiting NCT01846052

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:

id Genetic test Affiliating Genes
1 Achromatopsia 29 24 PDE6C

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

39
Eye, Cortex, Testes

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 187)
id Title Authors Year
1
Development of a Chromatic Pupillography Protocol for the First Gene Therapy Trial in Patients With CNGA3-Linked Achromatopsia. ( 28241315 )
2017
2
Differences in ocular findings in two siblings: one with complete and other with incomplete achromatopsia. ( 28197754 )
2017
3
Gene therapy for achromatopsia. ( 28095637 )
2017
4
Achromatopsia mutations target sequential steps of ATF6 activation. ( 28028229 )
2017
5
Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep. ( 28478700 )
2017
6
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. ( 27718025 )
2017
7
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. ( 28159970 )
2017
8
REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. ( 28145975 )
2017
9
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. ( 26740549 )
2016
10
Novel mutations in the gene for I+-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. ( 27040408 )
2016
11
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. ( 26427422 )
2016
12
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. ( 26603570 )
2016
13
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26950208 )
2016
14
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. ( 27479814 )
2016
15
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. ( 27820752 )
2016
16
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 27003753 )
2016
17
Understanding Cone Photoreceptor Cell Death in Achromatopsia. ( 26427416 )
2016
18
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. ( 27472364 )
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 Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. ( 26956923 )
2016
21
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. ( 27124317 )
2016
22
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. ( 26493561 )
2015
23
Achromatopsia: a review. ( 26196097 )
2015
24
Achromatopsia caused by novel missense mutations in the CNGA3 gene. ( 26558200 )
2015
25
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). ( 25605338 )
2015
26
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. ( 25461672 )
2015
27
Mutation of ATF6 causes autosomal recessive achromatopsia. ( 26063662 )
2015
28
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. ( 26407004 )
2015
29
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. ( 26029869 )
2015
30
Retinal Development in Infants and Young Children with Achromatopsia. ( 25972256 )
2015
31
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. ( 26567794 )
2015
32
Achromatopsia: on the doorstep of a possible therapy. ( 26304472 )
2015
33
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. ( 26087757 )
2015
34
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. ( 25616768 )
2015
35
Novel CNGA3 mutations in Chinese patients with achromatopsia. ( 25637600 )
2015
36
Achromatopsia in three sibling Labrador Retrievers in the UK. ( 25752464 )
2015
37
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. ( 25855802 )
2015
38
Retinal structure and function in achromatopsia: implications for gene therapy. ( 24148654 )
2014
39
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. ( 25204753 )
2014
40
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. ( 25277229 )
2014
41
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. ( 25168900 )
2014
42
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. ( 24903488 )
2014
43
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. ( 24504161 )
2014
44
Re: Sundaram et al.: Retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). ( 24793525 )
2014
45
Re: Sundaram et al.: retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). ( 24793738 )
2014
46
Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography. ( 24995800 )
2014
47
Multimodal retinal imaging in achromatopsia. ( 25372195 )
2014
48
A prospective longitudinal study of retinal structure and function in achromatopsia. ( 25103266 )
2014
49
Five novel CNGB3 gene mutations in Polish patients with achromatopsia. ( 25558176 )
2014
50
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. ( 24676353 )
2014

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6
id 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

GO Terms for Achromatopsia

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

id Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 9.43 OPN1LW OPN1MW OPN1SW
2 photoreceptor outer segment membrane GO:0042622 9.35 CNGA3 GNAT2 OPN1LW OPN1MW OPN1SW
3 transmembrane transporter complex GO:1902495 9.33 CNGA3 CNGB1 CNGB3
4 photoreceptor outer segment GO:0001750 9.17 CNGB1 CNGB3 GNAT2 OPN1LW OPN1MW OPN1SW

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.96 CNGA3 CNGB1 CNGB3 CNNM4 SLC38A8
2 visual perception GO:0007601 9.86 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 9.71 CNGA3 CNGB1 CNGB3
5 cation transmembrane transport GO:0098655 9.7 CNGA3 CNGB1 CNGB3
6 cation transport GO:0006812 9.69 CNGA3 CNGB1 CNGB3
7 retina development in camera-type eye GO:0060041 9.67 MFRP NR2E3 RPE65
8 phototransduction GO:0007602 9.63 CNGB1 GNAT2 NR2E3 OPN1LW OPN1MW OPN1SW
9 retinoid metabolic process GO:0001523 9.62 OPN1LW OPN1MW OPN1SW RPE65
10 detection of light stimulus involved in visual perception GO:0050908 9.58 CNGB1 GNAT2 RPE65
11 eye photoreceptor cell development GO:0042462 9.55 MFRP NR2E3
12 protein-chromophore linkage GO:0018298 9.54 OPN1LW OPN1MW OPN1SW
13 response to stimulus GO:0050896 9.47 CNGA3 CNGB1 CNGB3 CNNM4 GNAT2 NR2E3
14 positive regulation of rhodopsin gene expression GO:0045872 9.46 NR2E3 NRL
15 regulation of rhodopsin gene expression GO:0007468 9.43 NRL RPE65
16 retinal cone cell development GO:0046549 9.43 DIO3 GNAT2 PDE6C
17 signal transduction GO:0007165 10.18 ATF6 CNGA3 CNGB3 GNAT2 GNAZ NR2E3

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 9.72 GNAT2 GNAZ OPN1LW OPN1MW OPN1SW
2 voltage-gated potassium channel activity GO:0005249 9.54 CNGA3 CNGB1 CNGB3
3 G-protein beta/gamma-subunit complex binding GO:0031683 9.48 GNAT2 GNAZ
4 guanyl nucleotide binding GO:0019001 9.46 GNAT2 GNAZ
5 3,5-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.43 PDE6C PDE6H
6 3,5-cyclic-GMP phosphodiesterase activity GO:0047555 9.4 PDE6C PDE6H
7 photoreceptor activity GO:0009881 9.33 OPN1LW OPN1MW OPN1SW
8 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.26 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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