ACHM
MCID: ACH003
MIFTS: 47

Achromatopsia (ACHM) malady

Summaries for Achromatopsia

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 blue cone monochromacy and blindness. 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 cortex, and related mouse phenotypes are vision/eye and nervous system.

Wikipedia:64 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five separate... more...

Description from OMIM:47 610024,613856,216900,613093,262300

GeneReviews summary for achm

Aliases & Classifications for Achromatopsia

Sources:
8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 61UMLS, 47OMIM, 27ICD9CM, 57SNOMED-CT, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

achromatopsia 8 19 20 22 10 45 31 61
total color blindness 19
rod monochromatism 19
monochromatism 8
achm 8


External Ids:

Disease Ontology8 DOID:13911
ICD9CM27 368.54
SNOMED-CT57 56852002
NCIt40 C84528
MeSH35 D003117

Related Diseases for Achromatopsia

Sources:
17GeneCards, 18GeneDecks
See all sources

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 54)
idRelated DiseaseScoreTop Affiliating Genes
1blue cone monochromacy30.4CNGA3, CNGB3, NYX, TEX28, TEX28P2
2blindness30.2RPGR, RHO, NR2E3
3congenital nystagmus29.9CNGB3, CNGA3, GNAT2
4cone-rod dystrophy 229.8RPGR, KCNV2, GNAT2, RHO, CNNM4
5achromatopsia 210.5
6achromatopsia 310.3
7achromatopsia 410.3
8cone dystrophy10.3
9amblyopia10.2
10blue cone monochromatism10.2
11achromatopsia 510.2
12achromatopsia 610.2
13vitiligo10.2
14blue-mono-cone-monochromatic type colorblindness10.2
15albinism10.1
16color agnosia10.1
17retinal cone dystrophy 310.0PDE6H
18goldmann-favre syndrome10.0NR2E3, CNGA3
19folliculitis10.0
20intracranial aneurysm10.0
21prurigo nodularis10.0
22chronic actinic dermatitis10.0
23amelogenesis imperfecta10.0CNNM4
24retinitis10.0RHO
25cholera10.0RHO
26myopia 610.0NYX, RPGR
27retinal cone dystrophy 210.0RPGR, CNGA3
28color blindness10.0TEX28P2, TEX28, CNGB3, CNGA3, PDE6H
29stargardt disease10.0RHO, GNAT2
30oguchi disease 110.0RHO, NYX
31congenital stationary night blindness10.0NYX, RHO
32fundus dystrophy10.0CNGA3, RHO, RPGR
33retinal degeneration10.0RPGR, RHO, NR2E3
34leber congenital amaurosis10.0RHO, RPGR
35retinal disease10.0RPGR, RHO, NR2E3, CNGA3, NYX
36night blindness10.0RPGR, GNAZ, RHO, NR2E3, NYX
37rhyns syndrome10.0RPGR, RHO, NR2E3, CNGB1, RGR
38vertebrobasilar insufficiency9.9
39prosopagnosia9.9
40anosognosia9.9
41cortical blindness9.9
42n syndrome9.9
43agnosia9.9
44visual agnosia9.9
45optic atrophy type 19.9
46behr syndrome9.9
47cone-rod dystrophy amelogenesis imperfecta9.9
48nystagmus 1, congenital, x- linked9.9
49retinohepatoendocrinologic syndrome9.9
50spondylometaphyseal dysplasia with cone-rod dystrophy9.9

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Clinical Features for Achromatopsia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

610024,613856,216900,613093,262300

Drugs & Therapeutics for Achromatopsia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Achromatopsia:

id Genetic test Affiliating Genes
1 Achromatopsia20 22 PDE6C

Anatomical Context for Achromatopsia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Achromatopsia:

33
Cortex

Animal Models for Achromatopsia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Achromatopsia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.1RPGR, SLC24A2, RGR, CNGB3, CNGA3, CNGB1
2MP:00036316.7RPGR, CNGB3, CNGA3, CNGB1, BACE1, NR2E3

Publications for Achromatopsia

Sources:
51PubMed
See all sources

Articles related to Achromatopsia:

(show top 50)    (show all 140)
idTitleAuthorsYear
1
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
2
Correction: AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia. (24416108)
2014
3
Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. (23568263)
2013
4
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. (23362848)
2013
5
CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions. (23552282)
2013
6
The achromatic 'philosophical zombie', a syndrome of cerebral achromatopsia with color anopsognosia. (23687498)
2013
7
Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy. (22903242)
2012
8
Gene therapy restores missing cone-mediated vision in the CNGA3-/- mouse model of achromatopsia. (22183332)
2012
9
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. (21576125)
2011
10
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
11
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
12
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
13
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
14
Evaluation of a behavioral method for objective vision testing and identification of achromatopsia in dogs. (20043788)
2010
15
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. (20574029)
2010
16
Preserved striate cortex is not sufficient to support the McCollough effect: evidence from two patients with cerebral achromatopsia. (20192125)
2009
17
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. (19887631)
2009
18
Rod and rod-driven function in achromatopsia and blue cone monochromatism. (18824728)
2009
19
CNGA3 mutations in two United Arab Emirates families with achromatopsia. (18636117)
2008
20
Identification of a zebrafish cone photoreceptor-specific promoter and genetic rescue of achromatopsia in the nof mutant. (17251445)
2007
21
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
22
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
23
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
24
Complete achromatopsia associated with skeletal anomalies: a new autosomal recessive syndrome. (15658622)
2004
25
Characterization of a novel form of X-linked incomplete achromatopsia. (15518189)
2004
26
Molecular basis of an inherited form of incomplete achromatopsia. (14715947)
2004
27
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. (12140185)
2002
28
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. (12357335)
2002
29
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. (10330355)
1999
30
Discrimination of cone contrast changes as evidence for colour constancy in cerebral achromatopsia. (9835402)
1998
31
Legal blindness and employment in patients with juvenile-onset macular dystrophies or achromatopsia. (9730181)
1998
32
Preserved imagery for colours in a patient with cerebral achromatopsia. (9220266)
1997
33
Cerebral achromatopsia in monkeys. (7613611)
1995
34
Colour identification and colour constancy are impaired in a patient with incomplete achromatopsia associated with prestriate cortical lesions. (7784436)
1995
35
Dual rod pathways in complete achromatopsia. (7866265)
1994
36
Achromatopsia in the aura of migraine. (8509791)
1993
37
Color perception profiles in central achromatopsia. (8492959)
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
Electroretinograms in patients with achromatopsia. (1789084)
1991
40
The photoreceptors in atypical achromatopsia. (2621588)
1989
41
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
42
Light induced oscillations of the standing potential in achromatopsia. (3492348)
1986
43
X-linked incomplete achromatopsia with more than one class of functional cones. (6601089)
1983
44
Incomplete achromatopsia in Bishnupur. (310037)
1978
45
Correction of low visual acuity in achromatopsia. Use of corrective lenses as an aid to educational and vocational placement. (4543489)
1974
46
Pingelap and Mokil Atolls: achromatopsia. (4555088)
1972
47
Achromatopsia. Frequency and occupational prognosis. (5304429)
1968
48
On the electrical excitability of the eye in congenital achromatopsia; with Motokawa's method. (13291396)
1955
49
Congenital achromatopsia; a report of 19 cases. (13131176)
1954
50
Achromatopsia. Report of two cases. (14829491)
1951

Genetic Variations for Achromatopsia

Expression for genes affiliated with Achromatopsia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 52QIAGEN, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Achromatopsia

Sources:
60Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
See all sources

Compounds related to Achromatopsia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1(r)-(-)-rolipram6010.1PDE6C, PDE6H
2cilostamide60 45 2912.0PDE6C, PDE6H
311-cis-retinol45 2410.9RHO, RGR
4ribose459.8NR2E3, RHO
5sildenafil citrate609.8PDE6C, PDE6H
6metarhodopsin ii459.4RHO, GNAZ
7cgmp45 299.5CNGA3, CNGB1, RHO, GNAZ, RPGR

GO Terms for genes affiliated with Achromatopsia

Sources:
16Gene Ontology
See all sources

Cellular components related to Achromatopsia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:0426229.9RHO, GNAT2
2photoreceptor inner segmentGO:0019179.8GNAT2, RHO
3extrinsic to internal side of plasma membraneGO:0312349.4GNAZ, GNAT2
4photoreceptor outer segmentGO:0017509.2CNGB3, CNGA3, RHO, GNAT2, RPGR
5integral to plasma membraneGO:0058878.8RHO, BACE1, CNGB1, CNGA3, CNGB3, RGR
6plasma membraneGO:0058866.7KCNV2, GNAT2, GNAZ, PDE6C, TNFRSF17, RHO

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, NR2E3, GNAT2
3potassium ion transmembrane transportGO:0718059.8CNGB3, CNGA3, CNGB1
4regulation of membrane potentialGO:0423919.8CNGB1, CNGA3, CNGB3
5regulation of rhodopsin mediated signaling pathwayGO:0224009.7CNGB1, RHO
6protein-chromophore linkageGO:0182989.7RGR, RHO
7response to stimulusGO:0508969.5RPGR, PDE6H, CNNM4, NYX
8phototransduction, visible lightGO:0076039.4PDE6C, RHO, CNGB1, CNGA3, CNGB3
9G-protein coupled receptor signaling pathwayGO:0071868.5RGR, RHO, GNAZ, GNAT2
10visual perceptionGO:0076017.1NYX, 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 cGMP activated cation channel activityGO:0052239.9CNGB1, CNGA3, CNGB3
3intracellular cAMP activated cation channel activityGO:0052229.9CNGB1, CNGA3, CNGB3
4voltage-gated potassium channel activityGO:0052499.8CNGB1, CNGA3, CNGB3
5photoreceptor activityGO:0098819.8RGR, RHO
6ligand-gated ion channel activityGO:0152769.7CNGA3, CNGB1
7cGMP bindingGO:0305539.5CNGB3, CNGA3, CNGB1, PDE6C, PDE6H
8G-protein beta/gamma-subunit complex bindingGO:0316839.4GNAZ, GNAT2

Products for genes affiliated with Achromatopsia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achromatopsia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet