ACHM
MCID: ACH003
MIFTS: 55

Achromatopsia (ACHM) 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 3 68
Achromatopsia 2 68
Achromatopsia 1 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 achromatopsia 7 and achromatopsia 5, and has symptoms including photophobia, photophobia and Array. An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways are Retinoid cycle disease events 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 62)
idRelated DiseaseScoreTop Affiliating Genes
1achromatopsia 712.2
2achromatopsia 511.8
3achromatopsia-211.8
4achromatopsia-311.7
5achromatopsia-411.7
6blue cone monochromacy11.6
7color blindness11.3
8retinal cone dystrophy 311.1
9foveal hypoplasia 110.7
10foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.7
11nystagmus 1, congenital, x-linked10.7
12lacrimal duct defect10.3CNGA3, CNGB3, GNAT2
13cerebritis10.3
14celiac disease 810.3CNGA3, CNGB3, MFRP
15inflammatory bowel disease 2010.3CNGA3, CNGB3, RPGR
16familial isolated restrictive cardiomyopathy10.2CNGA3, CNGB3, GNAT2, PDE6C
17retinitis10.2
18dystonia 1610.2CNGA3, CNGB3, RPGR
19somatization disorder10.2CNGB3, OPN1LW, OPN1MW
20yellow fever10.2CNGA3, GNAT2, SLC38A8
21colorblindness, deutan10.2CNGB3, OPN1LW
22tay-sachs disease10.2CNGA3, NR2E3, NRL
23adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency10.2CNGA3, CNGB3, GNAT2, RPE65
24retinitis pigmentosa 3410.2CNGB3, OPN1MW, RPE65
25arthrogryposis, distal, type 2a10.2CNGA3, CNGB3, GNAT2, PDE6C, RPGR
26granulomas, congenital cerebral10.2NR2E3, NRL
27lipoyltransferase 1 deficiency10.1CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
28tendinosis10.1CNGB3, GNAT2, RPE65, RPGR
29waisman syndrome10.1CNGA3, CNGB3, OPN1LW, OPN1MW, OPSIN-LCR
30lumbosacral plexus lesion10.1CNGB3, OPN1LW, OPN1MW, RPE65
31puerperal pulmonary embolism10.1CNGB3, MFRP, RPE65, RPGR
32stxbp1 encephalopathy with epilepsy10.0OPN1LW, OPN1MW
33adult liposarcoma10.0CNGA3, CNGB3, NRL, RPE65, RPGR
34charcot-marie-tooth disease intermediate type10.0CNGB3, GNAZ, RPE65, RPGR
35van buchem disease10.0CNNM4, GNAT2, RPE65, RPGR
36amblyopia10.0
37liver cirrhosis9.9CNGA3, MFRP, NRL, RPE65, RPGR
38glioblastoma classical subtype9.9CNGB3, MFRP, OPN1LW, OPN1MW, PDE6C, PDE6H
39polyhydramnios9.9MFRP, NRL, RPE65, RPGR
40neuronitis9.9
41cone dystrophy9.8
42night blindness9.8
43dementia9.7
44dyslexia9.7
45central serous chorioretinopathy9.7
46corticobasal degeneration9.7
47angioid streaks9.7CNGA3, CNGB3, CNNM4, GNAT2, MFRP, OPN1LW
48jalili syndrome9.7
49cone-rod dystrophy9.7
50alopecia9.7

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 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the fovea64 54 Occasional (29-5%) HP:0007750
2 granular macular appearance64 54 Occasional (29-5%) HP:0007793
3 attenuation of retinal blood vessels64 54 Occasional (29-5%) HP:0007843
4 blue cone monochromacy64 54 Very rare (<4-1%) HP:0007939
5 visual impairment64 54 Very frequent (99-80%) HP:0000505
6 abnormal electroretinogram64 54 Very frequent (99-80%) HP:0000512
7 exotropia64 54 Very frequent (99-80%) HP:0000577
8 photophobia64 54 Very frequent (99-80%) HP:0000613
9 dyschromatopsia64 54 Very frequent (99-80%) HP:0007641
10 monochromacy54 Very frequent (99-80%)
11 pendular nystagmus64 54 Very frequent (99-80%) HP:0012043
12 hypermetropia64 54 Frequent (79-30%) HP:0000540
13 central scotoma64 54 Occasional (29-5%) HP:0000603
14 loss of retinal pigment epithelium54 Occasional (29-5%)
15 retinal pigment epithelial atrophy64 HP:0007722

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:00036318.8CNGA3, CNGB3, GNAT2, GNAZ, MFRP, NR2E3
2MP:00053917.8CNGA3, 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 Trial of AAV Gene Therapy in Patients With CNGB3 AchromatopsiaRecruitingNCT02599922Phase 1, Phase 2
4Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked AchromatopsiaActive, not recruitingNCT02610582Phase 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 187)
idTitleAuthorsYear
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

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Clinvar genetic disease variations for Achromatopsia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNGA3NM_ 001298.2(CNGA3): c.67C> T (p.Arg23Ter)SNVLikely pathogenicrs777509481GRCh38Chr 2, 98370042: 98370042

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
1photoreceptor disc membraneGO:009738110.3OPN1LW, OPN1MW, OPN1SW
2transmembrane transporter complexGO:190249510.0CNGA3, CNGB1, CNGB3
3photoreceptor outer segment membraneGO:00426229.5CNGA3, GNAT2, 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
1eye photoreceptor cell developmentGO:004246210.8MFRP, NR2E3
2positive regulation of rhodopsin gene expressionGO:004587210.8NR2E3, NRL
3cation transmembrane transportGO:009865510.7CNGA3, CNGB1, CNGB3
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:000746810.7NRL, RPE65
8detection of light stimulus involved in visual perceptionGO:005090810.6CNGB1, GNAT2, RPE65
9protein-chromophore linkageGO:001829810.6OPN1LW, OPN1MW, OPN1SW
10retinal cone cell developmentGO:004654910.5DIO3, GNAT2, PDE6C
11retina development in camera-type eyeGO:006004110.5MFRP, NR2E3, RPE65
12retinoid metabolic processGO:000152310.2OPN1LW, OPN1MW, OPN1SW, RPE65
13ion transportGO:000681110.2CNGA3, CNGB1, CNGB3, CNNM4, SLC38A8
14phototransductionGO:000760210.0CNGB1, GNAT2, NR2E3, OPN1LW, OPN1MW, OPN1SW
15signal transductionGO:00071659.0ATF6, CNGA3, CNGB3, GNAT2, GNAZ, NR2E3
16response to stimulusGO:00508968.3CNGA3, CNGB1, CNGB3, CNNM4, GNAT2, NR2E3
17visual perceptionGO:00076017.2ATF6, CNGA3, CNGB1, CNGB3, CNNM4, GNAT2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.8PDE6C, PDE6H
23,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.8PDE6C, PDE6H
3intracellular cyclic nucleotide activated cation channel activityGO:000522110.8CNGB1, CNGB3
4G-protein beta/gamma-subunit complex bindingGO:003168310.6GNAT2, GNAZ
5intracellular cGMP activated cation channel activityGO:000522310.6CNGA3, CNGB1, CNGB3
6guanyl nucleotide bindingGO:001900110.6GNAT2, GNAZ
7photoreceptor activityGO:000988110.5OPN1LW, OPN1MW, OPN1SW
8cGMP bindingGO:003055310.3CNGA3, CNGB1, CNGB3, PDE6C, PDE6H
9voltage-gated potassium channel activityGO:000524910.0CNGA3, CNGB1, CNGB3
10signal transducer activityGO:00048719.8GNAT2, GNAZ, OPN1LW, OPN1MW, OPN1SW

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