MCID: ACH003
MIFTS: 53

Achromatopsia malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia

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Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 35LifeMap Discovery®, 39MeSH, 45NCIt, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Achromatopsia:

Name: Achromatopsia 35 11 23 24 25 54 27 50 13 68
Total Color Blindness 24 25 54
Rod Monochromatism 24 25 54
Rod Monochromacy 24 54
Achm 11 54
Complete or Incomplete Color Blindness 54
 
Pingelapese Blindness 54
Achromatopsia 1 68
Achromatopsia 3 68
Achromatopsia 2 68
Monochromatism 11
Achromatism 25

Characteristics:

Orphanet epidemiological data:

54
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:13911
ICD1030 H53.51
ICD9CM32 368.54
MeSH39 D003117
SNOMED-CT62 56852002
NCIt45 C84528
Orphanet54 ORPHA49382
UMLS via Orphanet69 C0152200
ICD10 via Orphanet31 H53.5

Summaries for Achromatopsia

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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 jalili syndrome and achromatopsia 7, and has symptoms including Array, Array and Array. An important gene associated with Achromatopsia is CNGA3 (Cyclic Nucleotide Gated Channel Alpha 3), and among its related pathways are Diseases associated with visual transduction and Opsins. Affiliated tissues include eye, cortex and testes, and related mouse phenotypes are Increased circadian period length and nervous system.

Disease Ontology:11 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 for NBK1418

Related Diseases for Achromatopsia

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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 58)
idRelated DiseaseScoreTop Affiliating Genes
1jalili syndrome29.9CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
2achromatopsia 712.2
3achromatopsia 511.9
4achromatopsia-211.8
5achromatopsia-311.7
6achromatopsia-411.7
7blue cone monochromacy11.6
8color blindness11.3
9retinal cone dystrophy 311.1
10foveal hypoplasia 110.7
11foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.7
12nystagmus 1, congenital, x-linked10.7
13arthrogryposis, distal, type 2a10.5CNGB3, GNAT2, PDE6C
14retinitis pigmentosa 3410.5OPN1LW, OPN1MW
15sall4-related disorders10.5OPN1LW, OPN1MW
16tropical endomyocardial fibrosis10.5CNGA3, CNGB3, GNAT2, PDE6C
17enterovesical fistula10.4NR2E3, NRL
18retinitis pigmentosa 3710.4CNGA3, NR2E3, NRL
19acquired color blindness10.3CNGB3, OPN1MW, RPE65
20oral mucosa leukoplakia10.3CNGA3, CNGB3, GNAT2, SLC38A8
21waisman syndrome10.3CNGA3, CNGB3, OPN1LW, OPN1MW
22tibial collateral ligament bursitis10.3MFRP, RS1
23osteopoikilosis and dacryocystitis10.3RPE65, RPGR
24cerebritis10.3
25retinitis10.2
26ichthyosis, congenital, autosomal recessive 310.2RPE65, RPGR
27systolic heart failure10.2CNGA3, SLC38A8
28posterior polar cataract10.1CNGB3, RPE65, RS1
29porokeratosis 9, multiple types10.1NRL, RPE65, RPGR
30limbal stem cell deficiency10.0CNGA3, NRL, RPE65, RPGR
31tendinitis10.0CNGB3, GNAT2, RPE65, RPGR, RS1
32amblyopia10.0
33hypertrichotic osteochondrodysplasia10.0RPE65, RPGR
34van buchem disease9.9CNGA3, CNNM4, GNAT2, RPE65, RPGR
35macular degeneration, age-related, 19.9MFRP, NRL, RPE65, RS1
36neuronitis9.9
37localized scleroderma9.9MFRP, NR2E3, NRL, RPE65, RPGR
38cone dystrophy9.8
39night blindness9.8
40ovarian embryonal carcinoma9.8CNGA3, CNGB3, NRL, RPE65, RPGR, RS1
41dementia9.7
42dyslexia9.7
43central serous chorioretinopathy9.7
44corticobasal degeneration9.7
45cone-rod dystrophy9.7
46alopecia9.7
47retinitis pigmentosa9.7
48anosognosia9.7
49cortical blindness9.7
50vertebrobasilar insufficiency9.7

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms & Phenotypes for Achromatopsia

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Human phenotypes related to Achromatopsia:

 54 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment54 Very frequent (99-80%)
2 abnormal electroretinogram54 Very frequent (99-80%)
3 exotropia54 Very frequent (99-80%)
4 photophobia54 Very frequent (99-80%)
5 dyschromatopsia54 Very frequent (99-80%)
6 monochromacy54 Very frequent (99-80%)
7 pendular nystagmus54 Very frequent (99-80%)
8 hypermetropia54 Frequent (79-30%)
9 central scotoma54 Occasional (29-5%)
10 loss of retinal pigment epithelium54 Occasional (29-5%)

UMLS symptoms related to Achromatopsia:


photophobia

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00213-A10.4ATF6, CNNM4, OPN1LW, OPN1MW

MGI Mouse Phenotypes related to Achromatopsia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.5CNGA3, CNGB3, GNAT2, MFRP, NR2E3, NRL
2MP:00053917.1CNGA3, CNGB3, CNNM4, GNAT2, MFRP, NR2E3

Drugs & Therapeutics for Achromatopsia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1CNTF Implants for CNGB3 AchromatopsiaCompletedNCT01648452Phase 1, Phase 2
2Gene Therapy for Achromatopsia (CNGB3)RecruitingNCT03001310Phase 1, Phase 2
3Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked AchromatopsiaRecruitingNCT02610582Phase 1, Phase 2
4Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 AchromatopsiaRecruitingNCT02599922Phase 1, Phase 2
5Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 AchromatopsiaNot yet recruitingNCT02935517Phase 1, Phase 2
6Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
7Clinical and Genetic Characterization of Individuals With AchromatopsiaActive, not recruitingNCT01846052

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

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Genetic tests related to Achromatopsia:

id Genetic test Affiliating Genes
1 Achromatopsia27 24 PDE6C

Anatomical Context for Achromatopsia

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MalaCards organs/tissues related to Achromatopsia:

36
Eye, Cortex, Testes

Publications for Achromatopsia

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Articles related to Achromatopsia:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Achromatopsia mutations target sequential steps of ATF6 activation. (28028229)
2017
2
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. (27718025)
2017
3
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. (27124317)
2016
4
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. (26740549)
2016
5
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. (27479814)
2016
6
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. (26956923)
2016
7
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. (27472364)
2016
8
Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. (27003752)
2016
9
Safety and Biodistribution Evaluation in CNGB3-deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. (26950208)
2016
10
ELECTRONEGATIVE ELECTRORETINOGRAM IN ACHROMATOPSIA. (27820752)
2016
11
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. (26603570)
2016
12
Novel mutations in the gene for I+-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. (27040408)
2016
13
Reliability and Repeatability of Cone Density Measurements in Patients with Congenital Achromatopsia. (26427422)
2016
14
Understanding Cone Photoreceptor Cell Death in Achromatopsia. (26427416)
2016
15
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. (27003753)
2016
16
Achromatopsia: on the doorstep of a possible therapy. (26304472)
2015
17
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. (26087757)
2015
18
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. (25461672)
2015
19
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. (26493561)
2015
20
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. (26407004)
2015
21
Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia. (26567794)
2015
22
Novel CNGA3 mutations in Chinese patients with achromatopsia. (25637600)
2015
23
Achromatopsia in three sibling Labrador Retrievers in the UK. (25752464)
2015
24
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. (25855802)
2015
25
Achromatopsia caused by novel missense mutations in the CNGA3 gene. (26558200)
2015
26
Achromatopsia: a review. (26196097)
2015
27
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. (25616768)
2015
28
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. (26029869)
2015
29
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K). (25605338)
2015
30
Mutation of ATF6 causes autosomal recessive achromatopsia. (26063662)
2015
31
Retinal Development in Infants and Young Children with Achromatopsia. (25972256)
2015
32
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (24676353)
2014
33
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. (24903488)
2014
34
A prospective longitudinal study of retinal structure and function in achromatopsia. (25103266)
2014
35
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. (25204753)
2014
36
Multimodal retinal imaging in achromatopsia. (25372195)
2014
37
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
38
Achromatopsia: case presentation and literature review emphasising the value of spectral domain optical coherence tomography. (24995800)
2014
39
Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health. (25277229)
2014
40
Re: Sundaram et al.: retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). (24793738)
2014
41
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. (25168900)
2014
42
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. (24504161)
2014
43
Re: Sundaram et al.: Retinal structure and function in achromatopsia: implications for gene therapy (Ophthalmology 2014;121:234-45). (24793525)
2014
44
Five novel CNGB3 gene mutations in Polish patients with achromatopsia. (25558176)
2014
45
Spectral domain optical coherence tomography findings in CNGB3-associated achromatopsia and therapeutic implications. (24664743)
2014
46
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
47
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. (23362848)
2013
48
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions. (23552282)
2013
49
The anatomy of cerebral achromatopsia: A reappraisal and comparison of two case reports. (23473619)
2013
50
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013

Variations for Achromatopsia

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Clinvar genetic disease variations for Achromatopsia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNGB3NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter)SNVLikely pathogenic, Pathogenicrs786204762GRCh37Chr 8, 87656038: 87656038
2CNGA3NM_001298.2(CNGA3): c.101+1G> ASNVLikely pathogenic, Pathogenicrs147118493GRCh37Chr 2, 98986540: 98986540
3CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
4CNGA3NM_001298.2(CNGA3): c.1669G> A (p.Gly557Arg)SNVPathogenicrs104893615GRCh37Chr 2, 99013302: 99013302
5CNGA3NM_001298.2(CNGA3): c.1585G> A (p.Val529Met)SNVPathogenicrs104893619GRCh37Chr 2, 99013218: 99013218

Expression for genes affiliated with Achromatopsia

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Search GEO for disease gene expression data for Achromatopsia.

Pathways for genes affiliated with Achromatopsia

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GO Terms for genes affiliated with Achromatopsia

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane transporter complexGO:190249510.0CNGA3, CNGB1, CNGB3
2photoreceptor outer segment membraneGO:00426229.5CNGA3, GNAT2, OPN1LW, OPN1MW, OPN1SW
3integral component of plasma membraneGO:00058879.4CNGA3, CNGB1, CNGB3, OPN1LW, OPN1MW, OPN1SW
4photoreceptor outer segmentGO:00017509.4CNGB1, CNGB3, GNAT2, OPN1LW, OPN1MW, OPN1SW

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:004654910.9GNAT2, PDE6C
2eye photoreceptor cell developmentGO:004246210.8MFRP, NR2E3
3positive regulation of rhodopsin gene expressionGO:004587210.7NR2E3, NRL
4cation transportGO:000681210.7CNGA3, CNGB1, CNGB3
5potassium ion transmembrane transportGO:007180510.7CNGA3, CNGB1, CNGB3
6regulation of membrane potentialGO:004239110.7CNGA3, CNGB1, CNGB3
7regulation of rhodopsin gene expressionGO:000746810.6NRL, RPE65
8cellular response to light stimulusGO:007148210.6OPN1LW, OPN1MW, OPN1SW
9detection of visible lightGO:000958410.6OPN1LW, OPN1MW, OPN1SW
10protein-chromophore linkageGO:001829810.6OPN1LW, OPN1MW, OPN1SW
11detection of light stimulus involved in visual perceptionGO:005090810.6CNGB1, GNAT2, RPE65
12retina development in camera-type eyeGO:006004110.5MFRP, NR2E3, RPE65
13retinoid metabolic processGO:000152310.2OPN1LW, OPN1MW, OPN1SW, RPE65
14phototransductionGO:000760210.0CNGB1, GNAT2, NR2E3, OPN1LW, OPN1MW, OPN1SW
15response to stimulusGO:005089610.0CNNM4, NRL, PDE6H, RPGR, SLC24A2
16signal transductionGO:00071659.9ATF6, CNGA3, CNGB3, NR2E3, OPN1LW, OPN1SW
17visual perceptionGO:00076016.5ATF6, CNGA3, CNGB1, CNGB3, CNNM4, GNAT2

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.7PDE6C, PDE6H
2photoreceptor activityGO:000988110.5OPN1LW, OPN1MW
3intracellular cAMP activated cation channel activityGO:000522210.5CNGA3, CNGB1, CNGB3
4intracellular cGMP activated cation channel activityGO:000522310.5CNGA3, CNGB1, CNGB3
5cGMP bindingGO:003055310.2CNGA3, CNGB1, CNGB3, PDE6C, PDE6H
6G-protein coupled photoreceptor activityGO:000802010.2GNAT2, OPN1LW, OPN1MW, OPN1SW
7voltage-gated potassium channel activityGO:000524910.0CNGA3, CNGB1, CNGB3

Sources for Achromatopsia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet