MCID: ACH003
MIFTS: 48

Achromatopsia malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Achromatopsia

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 59SNOMED-CT, 29ICD9CM, 42NCIt, 36MeSH, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Achromatopsia:

Name: Achromatopsia 32 10 21 22 23 47 12 51 24 65
Total Color Blindness 22 23 51
Rod Monochromatism 22 23 51
Rod Monochromacy 22 51
Achm 10 51
Complete or Incomplete Color Blindness 51
 
Pingelapese Blindness 51
Achromatopsia 3 65
Achromatopsia 1 65
Achromatopsia 2 65
Monochromatism 10
Achromatism 23


Classifications:

Orphanet: 51 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

51
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology10 DOID:13911
ICD9CM29 368.54
NCIt42 C84528
MeSH36 D003117
SNOMED-CT59 56852002
Orphanet51 49382
ICD10 via Orphanet28 H53.5
UMLS via Orphanet66 C0152200

Summaries for Achromatopsia

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Genetics Home Reference:23 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 cerebritis. An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C, CGMP-Specific, Cone, Alpha Prime), 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 vision/eye and nervous system.

Disease Ontology:10 A color blindness that is characterized by a congenital 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:68 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five conditions.... more...

GeneReviews summary for achm

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 98)
idRelated DiseaseScoreTop Affiliating Genes
1jalili syndrome30.3CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
2cerebritis10.6
3achromatopsia-210.5
4achromatopsia-310.5
5achromatopsia 710.5
6retinitis10.5
7blue cone monochromacy10.5
8achromatopsia-410.4
9achromatopsia 510.4
10retinal cone dystrophy 310.3
11night blindness10.3
12foster-kennedy syndrome10.3
13spiradenoma10.3
14amblyopia10.3
15color blindness10.3
16eye disease10.3
17optic nerve disease10.3
18color vision deficiency10.3
19neuronitis10.2
20globe disease10.2
21retinal disease10.2
22primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.2CNGA3, CNGB3, GNAT2, PDE6C
23waisman syndrome10.2OPN1LW, OPN1MW
24riboflavin transporter deficiency neuronopathy10.2OPN1LW, OPN1MW
25retinitis pigmentosa 3710.1CNGA3, NR2E3, NRL
26pediatric fibrosarcoma10.1CNGA3, CNGB3, GNAT2, SLC38A8
27choroidal sclerosis10.1CNGB3, RS1
28albinism10.1
29cone-rod dystrophy10.1
30blue color blindness10.1
31cone dystrophy10.1
32acquired color blindness10.1CNGB3, OPN1LW, TEX28
33amenorrhea10.1CNGB3, RPGR, TEX28
34proximal myopathy and ophthalmoplegia10.1CNGA3, CNGB3, GNAT2, PDE6C, RPGR
35gollop coates syndrome10.1NR2E3, NRL
36tuberous sclerosis-110.1
37tsc2 angiomyolipomas, renal, modifier of10.1
38dementia10.1
39central serous chorioretinopathy10.1
40corticobasal degeneration10.1
41retinal telangiectasia10.0CNGA3, CNGB1, CNGB3, NRL, RPGR
42deficiency anemia10.0CNGB3, GNAT2, PDE6H, RPGR, RS1
43diabetic foot ulcers10.0
44diabetic neuropathy10.0
45ulcer of lower limbs10.0
46bell's palsy10.0
47vascular skin disease10.0
48diabetic angiopathy10.0
49folliculitis10.0
50leg dermatosis10.0

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

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Drugs & Therapeutics for Achromatopsia

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked AchromatopsiaRecruitingNCT02610582Phase 1, Phase 2
2CNTF Implants for CNGB3 AchromatopsiaActive, not recruitingNCT01648452Phase 1, Phase 2
3Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 AchromatopsiaNot yet recruitingNCT02599922Phase 1, Phase 2
4Clinical and Genetic Characterization of Individuals With AchromatopsiaRecruitingNCT01846052
5Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

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 Achromatopsia22 24 PDE6C

Anatomical Context for Achromatopsia

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MalaCards organs/tissues related to Achromatopsia:

33
Eye, Cortex, Testes

Animal Models for Achromatopsia or affiliated genes

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MGI Mouse Phenotypes related to Achromatopsia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.8CNGA3, CNGB1, CNGB3, GNAT2, NR2E3, NRL
2MP:00036317.7CNGA3, CNGB1, CNGB3, GNAT2, GNAZ, NR2E3

Publications for Achromatopsia

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Articles related to Achromatopsia:

(show top 50)    (show all 166)
idTitleAuthorsYear
1
Achromatopsia: on the doorstep of a possible therapy. (26304472)
2015
2
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. (25855802)
2015
3
Achromatopsia caused by novel missense mutations in the CNGA3 gene. (26558200)
2015
4
Achromatopsia: a review. (26196097)
2015
5
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. (25616768)
2015
6
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. (25204753)
2014
7
Multimodal retinal imaging in achromatopsia. (25372195)
2014
8
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
9
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (24676353)
2014
10
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013
11
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
12
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
13
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
14
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
15
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. (21107338)
2011
16
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
17
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
18
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
19
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
20
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
21
Anosognosia for cerebral achromatopsia--a longitudinal case study. (19944708)
2010
22
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
23
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
24
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. (16505054)
2006
25
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
26
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (15712225)
2005
27
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
28
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
29
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
30
Achromatopsia, color vision, and cortex. (12916488)
2003
31
Clinical features of achromatopsia in Swedish patients with defined genotypes. (12187429)
2002
32
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. (10330355)
1999
33
Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. (7728111)
1995
34
Cerebral achromatopsia in monkeys. (7613611)
1995
35
Eye and head movements in patients with achromatopsia. (7926869)
1994
36
On the role of parvocellular (P) and magnocellular (M) pathways in cerebral achromatopsia. (8186952)
1994
37
Achromatopsia in the aura of migraine. (8509791)
1993
38
Incomplete achromatopsia in Alzheimer's disease. (8247229)
1993
39
Color perception profiles in central achromatopsia. (8492959)
1993
40
Achromatopsia (20301591)
1993
41
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
42
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. (6965660)
1980
43
Central achromatopsia: behavioral, anatomic, and physiologic aspects. (6968419)
1980
44
Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden. (316638)
1979
45
Congenital achromatopsia in a Finnish family. (308762)
1978
46
Pingelap and Mokil Atolls: achromatopsia. (4555088)
1972
47
Achromatopsia in Pingelap Islanders. Study of a genetic isolate. (5315519)
1971
48
On the electrical excitability of the eye in congenital achromatopsia; with Motokawa's method. (13291396)
1955
49
Congenital achromatopsia. (14354514)
1955
50
Achromatopsia. Report of two cases. (14829491)
1951

Variations for Achromatopsia

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Clinvar genetic disease variations for Achromatopsia:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1GNAT2NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter)single nucleotide variantPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_005272.3(GNAT2): c.461+24G> Asingle nucleotide variantPathogenicrs397515384GRCh37Chr 1, 110151229: 110151229
5CNGB3NM_019098.4(CNGB3): c.644-1G> Csingle nucleotide variantLikely pathogenicrs201794629GRCh37Chr 8, 87679362: 87679362
6CNGB3NM_019098.4(CNGB3): c.391C> T (p.Gln131Ter)single nucleotide variantLikely pathogenicrs786204492GRCh37Chr 8, 87683274: 87683274
7CNGB3NM_019098.4(CNGB3): c.991-3T> Gsingle nucleotide variantLikely pathogenicrs773372519GRCh37Chr 8, 87656917: 87656917
8CNGB3NM_019098.4(CNGB3): c.112C> T (p.Gln38Ter)single nucleotide variantLikely pathogenicrs786204498GRCh38Chr 8, 86743516: 86743516
9CNGB3NM_019098.4(CNGB3): c.646C> T (p.Arg216Ter)single nucleotide variantLikely pathogenicrs768345097GRCh37Chr 8, 87679359: 87679359
10CNGB3NM_019098.4(CNGB3): c.1006G> T (p.Glu336Ter)single nucleotide variantLikely pathogenicrs373862340GRCh37Chr 8, 87656899: 87656899
11CNGB3NM_019098.4(CNGB3): c.1578+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs372006750GRCh38Chr 8, 86625982: 86625982
12CNGB3NM_019098.4(CNGB3): c.1119G> A (p.Trp373Ter)single nucleotide variantLikely pathogenicrs786204762GRCh37Chr 8, 87656038: 87656038
13ATF6ATF6, 1-BP DUP, 355GduplicationPathogenic
14ATF6NM_007348.3(ATF6): c.970C> T (p.Arg324Cys)single nucleotide variantPathogenicrs761357250GRCh37Chr 1, 161789483: 161789483
15ATF6ATF6, IVS12, G-C, +1single nucleotide variantPathogenic
16ATF6ATF6, 1-BP DUP, 797CduplicationPathogenic
17ATF6ATF6, 1-BP DUP, 1110AduplicationPathogenic
18ATF6NM_007348.3(ATF6): c.1699T> A (p.Tyr567Asn)single nucleotide variantPathogenicrs796065053GRCh38Chr 1, 161863292: 161863292
19CNGA3NM_001298.2(CNGA3): c.101+1G> Asingle nucleotide variantLikely pathogenicrs147118493GRCh37Chr 2, 98986540: 98986540
20ATF6NM_007348.3(ATF6): c.82+5G> Tsingle nucleotide variantPathogenicrs797045170GRCh37Chr 1, 161736237: 161736237
21ATF6NM_007348.3(ATF6): c.353delC (p.Pro118Leufs)deletionPathogenicrs797045171GRCh37Chr 1, 161753885: 161753885
22ATF6NM_007348.3(ATF6): c.1187+5G> Csingle nucleotide variantPathogenicrs761129859GRCh37Chr 1, 161790956: 161790956
23ATF6NM_007348.3(ATF6): c.1533+1G> Csingle nucleotide variantPathogenicrs797045172GRCh37Chr 1, 161823114: 161823114
24ATF6NM_007348.3(ATF6): c.797dupC (p.Asn267Terfs)duplicationPathogenicrs797045173GRCh37Chr 1, 161771950: 161771950
25ATF6NM_007348.3(ATF6): c.1110dupA (p.Val371Serfs)duplicationPathogenicrs797045174GRCh37Chr 1, 161790874: 161790874
26PDE6CNM_006204.3(PDE6C): c.1958T> C (p.Leu653Pro)single nucleotide variantLikely pathogenicGRCh38Chr 10, 93655782: 93655782
27ATF6NM_007348.3: c.355_356dupGduplicationPathogenic
28CNGB3NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe)single nucleotide variantPathogenicrs121918344GRCh37Chr 8, 87644996: 87644996
29CNGB3NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter)single nucleotide variantLikely pathogenic, Pathogenicrs267606739GRCh37Chr 8, 87680283: 87680283
30CNGB3CNGB3, 1-BP INS, 492TinsertionPathogenic
31CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
32CNGB3CNGB3, 8-BP DEL, NT819deletionPathogenic
33PDE6HPDE6H, -29G-C, 5-PRIME UTRsingle nucleotide variantPathogenic
34PDE6CNM_006204.3(PDE6C): c.85C> T (p.Arg29Trp)single nucleotide variantPathogenicrs121918537GRCh37Chr 10, 95372567: 95372567
35CNGA3NM_001298.2(CNGA3): c.488C> T (p.Pro163Leu)single nucleotide variantPathogenicrs104893612GRCh37Chr 2, 99006159: 99006159
36CNGA3NM_001298.2(CNGA3): c.847C> T (p.Arg283Trp)single nucleotide variantPathogenicrs104893613GRCh37Chr 2, 99012480: 99012480
37CNGA3NM_001298.2(CNGA3): c.848G> A (p.Arg283Gln)single nucleotide variantPathogenicrs104893614GRCh37Chr 2, 99012481: 99012481
38CNGA3NM_001298.2(CNGA3): c.1669G> A (p.Gly557Arg)single nucleotide variantPathogenicrs104893615GRCh37Chr 2, 99013302: 99013302
39CNGA3NM_001298.2(CNGA3): c.872C> G (p.Thr291Arg)single nucleotide variantPathogenicrs104893616GRCh37Chr 2, 99012505: 99012505
40CNGA3NM_001298.2(CNGA3): c.1641C> A (p.Phe547Leu)single nucleotide variantPathogenicrs104893617GRCh37Chr 2, 99013274: 99013274
41CNGA3NM_001298.2(CNGA3): c.1228C> T (p.Arg410Trp)single nucleotide variantPathogenicrs137852608GRCh37Chr 2, 99012861: 99012861
42CNGA3NM_001298.2(CNGA3): c.1585G> A (p.Val529Met)single nucleotide variantPathogenicrs104893619GRCh37Chr 2, 99013218: 99013218
43CNGA3NM_001298.2(CNGA3): c.829C> T (p.Arg277Cys)single nucleotide variantPathogenicrs104893620GRCh37Chr 2, 99012462: 99012462
44CNGA3NM_001298.2(CNGA3): c.1306C> T (p.Arg436Trp)single nucleotide variantPathogenicrs104893621GRCh37Chr 2, 99012939: 99012939

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:190249510.6CNGA3, CNGB1, CNGB3
2photoreceptor outer segmentGO:000175010.0CNGA3, CNGB1, CNGB3, GNAT2, RPGR
3photoreceptor outer segment membraneGO:00426229.5GNAT2, OPN1LW, OPN1MW, OPN1MW2
4integral component of plasma membraneGO:00058878.8CNGA3, CNGB1, CNGB3, OPN1LW, OPN1MW, OPN1MW2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of rhodopsin gene expressionGO:004587210.7NR2E3, NRL
2detection of light stimulus involved in visual perceptionGO:005090810.7CNGB1, GNAT2
3eye photoreceptor cell developmentGO:004246210.6NR2E3, RPGR
4potassium ion transmembrane transportGO:007180510.5CNGA3, CNGB1, CNGB3
5retinal cone cell developmentGO:004654910.5CNGA3, GNAT2, PDE6C
6cation transportGO:000681210.4CNGA3, CNGB1, CNGB3
7protein-chromophore linkageGO:001829810.0OPN1LW, OPN1MW, OPN1MW2
8regulation of membrane potentialGO:00423919.9CNGA3, CNGB1, CNGB3
9retinoid metabolic processGO:00015239.9OPN1LW, OPN1MW, OPN1MW2
10positive regulation of cytokinesisGO:00324679.8OPN1LW, OPN1MW, OPN1MW2
11phototransductionGO:00076029.6CNGB1, GNAT2, NR2E3, OPN1LW, OPN1MW, OPN1MW2
12response to stimulusGO:00508969.5CNNM4, NRL, NYX, PDE6H, SLC24A2
13phototransduction, visible lightGO:00076039.5CNGB1, OPN1LW, OPN1MW, OPN1MW2, PDE6C
14signal transductionGO:00071658.6ATF6, CNGA3, CNGB3, GNAT2, GNAZ, NR2E3
15visual perceptionGO:00076016.9CNGA3, CNGB1, CNGB3, CNNM4, GNAT2, NR2E3

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1intracellular cAMP activated cation channel activityGO:000522210.4CNGA3, CNGB1, CNGB3
2intracellular cGMP activated cation channel activityGO:000522310.4CNGA3, CNGB1, CNGB3
3voltage-gated potassium channel activityGO:000524910.3CNGA3, CNGB1, CNGB3
4guanyl nucleotide bindingGO:001900110.3GNAT2, GNAZ
53,5-cyclic-GMP phosphodiesterase activityGO:004755510.3PDE6C, PDE6H
6ligand-gated ion channel activityGO:001527610.1CNGA3, CNGB1
73,5-cyclic-nucleotide phosphodiesterase activityGO:000411410.0PDE6C, PDE6H
8photoreceptor activityGO:000988110.0OPN1LW, OPN1MW, OPN1MW2
9cGMP bindingGO:00305539.8CNGA3, CNGB1, CNGB3, PDE6C, PDE6H
10G-protein beta/gamma-subunit complex bindingGO:00316839.7GNAT2, GNAZ

Sources for Achromatopsia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet