ACHM
MCID: ACH003
MIFTS: 49

Achromatopsia (ACHM) malady

Summaries for Achromatopsia

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8Disease Ontology, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Disease Ontology:8 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.

MalaCards: Achromatopsia, also known as total color blindness, is related to night blindness and blue cone monochromacy. An important gene associated with Achromatopsia is PDE6C (phosphodiesterase 6C, cGMP-specific, cone, alpha prime), and among its related pathways are Opsins and Potassium transporters: inward current. The compounds (r)-(-)-rolipram and cilostamide have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and testes, and related mouse phenotypes are vision/eye and nervous system.

Wikipedia:63 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five separate... more...

Description from OMIM:46 610024,613856,216900,613093,262300

GeneReviews summary for achm

Aliases & Classifications for Achromatopsia

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8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 30LifeMap Discovery™, 60UMLS, 46OMIM, 27ICD9CM, 56SNOMED-CT, 39NCIt, 34MeSH
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Aliases & Descriptions:

achromatopsia 8 19 20 22 10 44 30 60
total color blindness 19
rod monochromatism 19
monochromatism 8
achm 8


External Ids:

Disease Ontology8 DOID:13911
ICD9CM27 368.54
SNOMED-CT56 56852002
NCIt39 C84528
MeSH34 D003117

Related Diseases for Achromatopsia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Achromatopsia 2 family:

achromatopsia Achromatopsia 3
Achromatopsia 4 Achromatopsia 5
Achromatopsia 6

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

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1night blindness30.3RHO, RPGR, GNAZ, NR2E3, NYX
2blue cone monochromacy30.3TEX28, TEX28P2, NYX, CNGB3, CNGA3
3color blindness30.2PDE6H, TEX28, TEX28P2, CNGB3, CNGA3
4retinitis30.0RHO
5congenital nystagmus29.8CNGB3, CNGA3, GNAT2
6cone-rod dystrophy 229.8CNNM4, RPGR, KCNV2, GNAT2, RHO
7cerebritis10.5
8achromatopsia 210.4
9achromatopsia 310.3
10achromatopsia 410.3
11cone dystrophy10.2
12amblyopia10.2
13achromatopsia 510.2
14achromatopsia 610.2
15vitiligo10.2
16blue-mono-cone-monochromatic type colorblindness10.2
17albinism10.1
18color agnosia10.1
19blue cone monochromatism10.1
20retinal cone dystrophy 310.0PDE6H
21goldmann-favre syndrome10.0CNGA3, NR2E3
22amelogenesis imperfecta10.0CNNM4
23cholera10.0RHO
24myopia 610.0NYX, RPGR
25retinal cone dystrophy 210.0RPGR, CNGA3
26stargardt disease10.0GNAT2, RHO
27oguchi disease 110.0NYX, RHO
28congenital stationary night blindness10.0RHO, NYX
29blindness10.0RPGR, NR2E3, RHO
30fundus dystrophy10.0CNGA3, RPGR, RHO
31retinal degeneration10.0NR2E3, RHO, RPGR
32leber congenital amaurosis10.0RHO, RPGR
33retinal disease10.0NR2E3, RHO, NYX, RPGR, CNGA3
34rhyns syndrome10.0RHO, RPGR, NR2E3, CNGB1, RGR
35intracranial embolism9.9
36folliculitis9.9
37intracranial aneurysm9.9
38cheilitis9.9
39dermatitis9.9
40pulmonary embolism9.9
41vertebrobasilar insufficiency9.9
42prosopagnosia9.9
43anosognosia9.9
44alzheimer's disease9.9
45cortical blindness9.9
46agnosia9.9
47migraine9.9
48refractive error9.9
49visual agnosia9.9
50optic atrophy type 19.9

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Clinical Features for Achromatopsia

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46OMIM
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Clinical features from OMIM:

610024,613856,216900,613093,262300

Drugs & Therapeutics for Achromatopsia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Achromatopsia

Drug clinical trials:

Search ClinicalTrials for Achromatopsia

Search NIH Clinical Center for Achromatopsia

Search CenterWatch for Achromatopsia

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
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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20GeneTests, 22GTR
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Genetic tests related to Achromatopsia:

id Genetic test Affiliating Genes
1 Achromatopsia20 22 PDE6C

Anatomical Context for Achromatopsia

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32MalaCards
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MalaCards organs/tissues related to Achromatopsia:

32
Eye, Cortex, Testes

Animal Models for Achromatopsia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Achromatopsia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.1RPGR, SLC24A2, RGR, CNGB3, CNGA3, CNGB1
2MP:00036316.7RPGR, CNGB3, CNGA3, CNGB1, BACE1, NR2E3

Publications for Achromatopsia

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50PubMed
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Articles related to Achromatopsia:

(show top 50)    (show all 137)
idTitleAuthorsYear
1
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
2
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
3
Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on "CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions". (23677796)
2013
4
The anatomy of cerebral achromatopsia: A reappraisal and comparison of two case reports. (23473619)
2013
5
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
6
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
7
A novel mutation in the CNGA3 gene responsible for incomplete achromatopsia. (24269407)
2012
8
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
9
Clinical utility gene card for: achromatopsia. (21267001)
2011
10
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. (21127010)
2011
11
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
12
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
13
Anosognosia for cerebral achromatopsia--a longitudinal case study. (19944708)
2010
14
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. (20079539)
2010
15
Pupillary responses to coloured and contourless displays in total cerebral achromatopsia. (18550620)
2008
16
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. (18521937)
2008
17
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. (17652762)
2007
18
The use of tinted contact lenses in the management of achromatopsia. (17601566)
2007
19
The use of tinted contact lenses in the management of achromatopsia. (17208670)
2007
20
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
21
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
22
Clinical and genetic features of Hungarian achromatopsia patients. (16319819)
2005
23
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
24
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. (12077706)
2002
25
The regional cortical basis of achromatopsia: a study on macaque monkeys and an achromatopsic patient. (11722617)
2001
26
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21. (10958649)
2000
27
Form and motion from colour in cerebral achromatopsia. (9835403)
1998
28
Cerebral achromatopsia: colour blindness despite wavelength processing. (21223886)
1997
29
Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. (7728111)
1995
30
Surgical dampening of nystagmus in patients with achromatopsia. (21314384)
1995
31
Cerebral achromatopsia as a presentation of Trousseau's syndrome. (7708594)
1995
32
Eye and head movements in patients with achromatopsia. (7926869)
1994
33
On the role of parvocellular (P) and magnocellular (M) pathways in cerebral achromatopsia. (8186952)
1994
34
Achromatopsia (20301591)
1993
35
A century of cerebral achromatopsia. (2276043)
1990
36
Heterozygote detection in X-linked recessive incomplete achromatopsia. (3261410)
1988
37
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
38
Two additional benefits of dark glasses on rod vision in patients with congenital achromatopsia. (6600883)
1983
39
Achromatopsia and congenital nystagmus. (6224818)
1983
40
Incomplete achromatopsia: diagnosis in infancy. (6983369)
1982
41
A case of incomplete achromatopsia of the deutan type. (6975711)
1981
42
Central achromatopsia. (7195522)
1981
43
Paradoxical pupil in congenital achromatopsia. (6971816)
1981
44
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. (6965660)
1980
45
Central achromatopsia: behavioral, anatomic, and physiologic aspects. (6968419)
1980
46
Autosomal recessive incomplete achromatopsia with protan luminosity function. (309579)
1978
47
Achromatopsia with amblyopia. II. A psychophysical study of 5 cases. (4545906)
1974
48
Achromatopsia with amblyopia. I. A clinical and electroretinographical study of 39 cases. (4545952)
1974
49
ERG in a case of achromatopsia congenita and sectoral retinopathia pigmentosa. (5316548)
1971
50
A case of atypical achromatopsia. (21018037)
1946

Genetic Variations for Achromatopsia

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Expression for genes affiliated with Achromatopsia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Achromatopsia

Search GEO for disease gene expression data for Achromatopsia.

Pathways for genes affiliated with Achromatopsia

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53Reactome, 12EMD Millipore, 51QIAGEN, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Achromatopsia

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59Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
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Compounds related to Achromatopsia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(-)-rolipram5910.1PDE6C, PDE6H
2cilostamide59 44 2812.0PDE6C, PDE6H
311-cis-retinol44 2410.9RHO, RGR
4ribose449.8RHO, NR2E3
5sildenafil citrate599.8PDE6C, PDE6H
6metarhodopsin ii449.4GNAZ, RHO
7cgmp44 289.5CNGA3, CNGB1, RHO, GNAZ, RPGR

GO Terms for genes affiliated with Achromatopsia

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16Gene Ontology
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Cellular components related to Achromatopsia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:0426229.9RHO, GNAT2
2photoreceptor inner segmentGO:0019179.8RHO, GNAT2
3extrinsic to internal side of plasma membraneGO:0312349.4GNAZ, GNAT2
4photoreceptor outer segmentGO:0017509.2CNGB3, CNGA3, RHO, GNAT2, RPGR
5integral to plasma membraneGO:0058878.8RGR, CNGB3, CNGA3, CNGB1, BACE1, RHO
6plasma membraneGO:0058866.7PDE6C, SLC24A2, CNNM4, CNGB1, RHO, TNFRSF17

Biological processes related to Achromatopsia according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:04654910.1CNGA3, PDE6C, GNAT2
2phototransductionGO:0076029.9RGR, GNAT2, NR2E3
3potassium ion transmembrane transportGO:0718059.8CNGB1, CNGB3, CNGA3
4regulation of membrane potentialGO:0423919.8CNGA3, CNGB1, CNGB3
5regulation of rhodopsin mediated signaling pathwayGO:0224009.7RHO, CNGB1
6protein-chromophore linkageGO:0182989.7RHO, RGR
7response to stimulusGO:0508969.5CNNM4, NYX, PDE6H, RPGR
8phototransduction, visible lightGO:0076039.4CNGA3, CNGB1, RHO, PDE6C, CNGB3
9G-protein coupled receptor signaling pathwayGO:0071868.5RHO, GNAZ, GNAT2, RGR
10visual perceptionGO:0076017.1CNGB1, RPGR, GNAT2, PDE6H, PDE6C, RHO

Molecular functions related to Achromatopsia according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:04755510.0PDE6C, PDE6H
2intracellular cAMP activated cation channel activityGO:0052229.9CNGB3, CNGA3, CNGB1
3intracellular cGMP activated cation channel activityGO:0052239.9CNGB1, CNGB3, CNGA3
4voltage-gated potassium channel activityGO:0052499.8CNGB3, CNGB1, CNGA3
5photoreceptor activityGO:0098819.8RHO, RGR
6ligand-gated ion channel activityGO:0152769.7CNGB1, CNGA3
7cGMP bindingGO:0305539.5PDE6C, CNGB1, CNGA3, CNGB3, PDE6H
8G-protein beta/gamma-subunit complex bindingGO:0316839.4GNAZ, GNAT2

Products for genes affiliated with Achromatopsia

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Sources for Achromatopsia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet