MCID: ACH003
MIFTS: 48

Achromatopsia malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia

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Sources:
33LifeMap Discovery®, 11Disease Ontology, 22GeneReviews, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 30ICD9CM, 37MeSH, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Achromatopsia:

Name: Achromatopsia 33 11 22 23 24 13 52 25 48 66
Total Color Blindness 23 24 52
Rod Monochromatism 23 24 52
Rod Monochromacy 23 52
Achm 11 52
Complete or Incomplete Color Blindness 52
 
Pingelapese Blindness 52
Achromatopsia 2 66
Achromatopsia 1 66
Monochromatism 11
Achromatism 24

Characteristics:

Orphanet epidemiological data:

52
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:13911
ICD1028 H53.51
ICD9CM30 368.54
MeSH37 D003117
SNOMED-CT60 56852002
NCIt43 C84528
Orphanet52 ORPHA49382
UMLS via Orphanet67 C0152200
ICD10 via Orphanet29 H53.5

Summaries for Achromatopsia

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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 jalili syndrome and achromatopsia 7, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), 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: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:69 Achromatopsia (ACHM), also known as total color blindness, is a medical syndrome that exhibits symptoms... more...

GeneReviews summary 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 all 49)
idRelated DiseaseScoreTop Affiliating Genes
1jalili syndrome30.1CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
2achromatopsia 712.1
3achromatopsia 512.0
4achromatopsia-311.7
5blue cone monochromacy11.6
6achromatopsia-211.6
7achromatopsia-411.5
8retinal cone dystrophy 311.2
9color blindness10.7
10arthrogryposis, distal, type 2a10.5CNGB3, GNAT2, PDE6C
11retinitis pigmentosa 3410.5OPN1LW, OPN1MW
12tropical endomyocardial fibrosis10.5CNGA3, CNGB3, GNAT2, PDE6C
13sall4-related disorders10.4OPN1LW, OPN1MW
14retinitis pigmentosa 3710.4CNGA3, NRL
15cerebritis10.4
16retinitis10.4
17acquired color blindness10.3CNGB3, OPN1MW
18waisman syndrome10.3CNGA3, CNGB3, OPN1LW, OPN1MW
19systolic heart failure10.2CNGA3, FRMD7, SLC38A8
20tendinitis10.2CNGB3, GNAT2, RPGR, RS1
21amblyopia10.1
22van buchem disease10.1CNGA3, CNNM4, GNAT2, RPGR
23neuronitis10.0
24oral mucosa leukoplakia10.0CNGA3, CNGB3, FRMD7, GNAT2, SLC38A8
25posterior polar cataract10.0CNGB3, GNAZ, NYX, RS1
26cone dystrophy10.0
27creatine transporter deficiency9.9CNGB3, OPN1LW, OPN1MW, PDE6C, PDE6H, RPGR
28dementia9.9
29corticobasal degeneration9.9
30central serous chorioretinopathy9.9
31foveal hypoplasia 19.9
32foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis9.9
33nystagmus 1, congenital, x-linked9.9
34cone-rod dystrophy9.8
35alopecia9.8
36retinitis pigmentosa9.8
37anosognosia9.8
38cortical blindness9.8
39vertebrobasilar insufficiency9.8
40agnosia9.8
41prosopagnosia9.8
42retinal disease9.8
43congenital nystagmus9.8
44refractive error9.8
45localized scleroderma9.7CNTF, NRL, RPGR
46ovarian embryonal carcinoma9.7CNGA3, CNGB3, NRL, NYX, RPGR, RS1
47pure red-cell aplasia9.2CNGA3, CNGB3, CNNM4, GNAT2, NRL, OPN1LW
48scar contracture8.8CNGA3, CNGB1, CNTF, NRL, NYX, OPN1LW
49acute biphenotypic leukemia6.4ATF6, CNGA3, CNGB1, CNGB3, CNNM4, CNTF

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

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UMLS symptoms related to Achromatopsia:


photophobia

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
2Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 AchromatopsiaRecruitingNCT02599922Phase 1, Phase 2
3CNTF Implants for CNGB3 AchromatopsiaActive, not recruitingNCT01648452Phase 1, Phase 2
4Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
5Clinical 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 Achromatopsia25 23 PDE6C

Anatomical Context for Achromatopsia

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MalaCards organs/tissues related to Achromatopsia:

34
Eye, Cortex, Testes

Animal Models for Achromatopsia or affiliated genes

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MGI Mouse Phenotypes related to Achromatopsia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.6CNGA3, CNGB3, CNNM4, GNAT2, NRL, NYX
2MP:00036317.5CNGA3, CNGB3, CNTF, GNAT2, GNAZ, NRL

Publications for Achromatopsia

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Articles related to Achromatopsia:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. (27124317)
2016
2
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. (26740549)
2016
3
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. (27479814)
2016
4
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia. (26956923)
2016
5
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. (27472364)
2016
6
Achromatopsia: on the doorstep of a possible therapy. (26304472)
2015
7
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. (26087757)
2015
8
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. (25461672)
2015
9
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. (26493561)
2015
10
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (24676353)
2014
11
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. (24903488)
2014
12
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
13
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. (23362848)
2013
14
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
15
A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia. (24269407)
2012
16
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
17
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
18
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
19
Clinical utility gene card for: achromatopsia. (21267001)
2011
20
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
21
Gene therapy rescues cone function in congenital achromatopsia. (20378608)
2010
22
Preserved striate cortex is not sufficient to support the McCollough effect: evidence from two patients with cerebral achromatopsia. (20192125)
2009
23
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. (17265047)
2007
24
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
25
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. (17065522)
2006
26
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
27
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
28
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
29
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (15557429)
2004
30
Achromatopsia, color vision, and cortex. (12916488)
2003
31
Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status. (8843124)
1996
32
Cerebral achromatopsia in monkeys. (7613611)
1995
33
Colour identification and colour constancy are impaired in a patient with incomplete achromatopsia associated with prestriate cortical lesions. (7784436)
1995
34
On the role of parvocellular (P) and magnocellular (M) pathways in cerebral achromatopsia. (8186952)
1994
35
Achromatopsia in the aura of migraine. (8509791)
1993
36
Incomplete achromatopsia in Alzheimer's disease. (8247229)
1993
37
Achromatopsia (20301591)
1993
38
Visual object agnosia, prosopagnosia, achromatopsia, loss of visual imagery, and autobiographical amnesia following recovery from cortical blindness: case M.H. (8341415)
1993
39
Heterozygote detection in X-linked recessive incomplete achromatopsia. (3261410)
1988
40
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
41
Light induced oscillations of the standing potential in achromatopsia. (3492348)
1986
42
Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden. (316638)
1979
43
Congenital achromatopsia in a Finnish family. (308762)
1978
44
Achromatopsia in Pingelap Islanders. Study of a genetic isolate. (5315519)
1971
45
ELECTRORETINOGRAPHIC FINDINGS (INCLUDING FLICKER) IN CARRIERS OF CONGENITAL X-LINKED ACHROMATOPSIA. (14214278)
1964
46
On the electrical excitability of the eye in congenital achromatopsia; with Motokawa's method. (13291396)
1955
47
Congenital achromatopsia; a report of 19 cases. (13131176)
1954
48
Color vision differences in the two eyes of a given individual; a case of simulated unilateral atypical achromatopsia. (12985815)
1952
49
Achromatopsia. Report of two cases. (14829491)
1951
50
A case of atypical achromatopsia. (21018037)
1946

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.1669G> A (p.Gly557Arg)single nucleotide variantPathogenicrs104893615GRCh37Chr 2, 99013302: 99013302

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:190249510.4CNGA3, CNGB1, CNGB3
2photoreceptor outer segment membraneGO:00426229.7CNGA3, GNAT2, OPN1LW, OPN1MW, OPN1SW
3photoreceptor outer segmentGO:00017509.5CNGB1, CNGB3, GNAT2, OPN1LW, OPN1MW, OPN1SW
4integral component of plasma membraneGO:00058879.0CNGA3, CNGB1, CNGB3, OPN1LW, OPN1MW, OPN1SW

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:004654910.7GNAT2, PDE6C
2detection of light stimulus involved in visual perceptionGO:005090810.6CNGB1, GNAT2
3detection of visible lightGO:000958410.5OPN1LW, OPN1MW, OPN1SW
4potassium ion transmembrane transportGO:007180510.5CNGA3, CNGB1, CNGB3
5cation transportGO:000681210.5CNGA3, CNGB1, CNGB3
6cellular response to light stimulusGO:007148210.5OPN1LW, OPN1MW, OPN1SW
7protein-chromophore linkageGO:001829810.3OPN1LW, OPN1MW, OPN1SW
8regulation of membrane potentialGO:004239110.2CNGA3, CNGB1, CNGB3
9retinoid metabolic processGO:000152310.2OPN1LW, OPN1MW, OPN1SW
10phototransductionGO:000760210.0CNGB1, GNAT2, OPN1LW, OPN1MW, OPN1SW
11response to stimulusGO:00508969.7CNNM4, NRL, PDE6H, RPGR, SLC24A2
12signal transductionGO:00071659.2ATF6, CNGA3, CNGB3, CNTF, OPN1LW, OPN1SW
13visual perceptionGO:00076016.7ATF6, CNGA3, CNGB1, CNGB3, CNNM4, GNAT2

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:004755510.5PDE6C, PDE6H
2photoreceptor activityGO:000988110.4OPN1LW, OPN1MW
3G-protein beta/gamma-subunit complex bindingGO:003168310.3GNAT2, GNAZ
4G-protein coupled photoreceptor activityGO:000802010.0GNAT2, OPN1LW, OPN1MW, OPN1SW
5intracellular cAMP activated cation channel activityGO:00052229.9CNGA3, CNGB1, CNGB3
6intracellular cGMP activated cation channel activityGO:00052239.8CNGA3, CNGB1, CNGB3
7voltage-gated potassium channel activityGO:00052499.6CNGA3, CNGB1, CNGB3
8cGMP bindingGO:00305539.6CNGA3, CNGB1, CNGB3, PDE6C, PDE6H

Sources for Achromatopsia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet