ACHM
MCID: ACH003
MIFTS: 54

Achromatopsia (ACHM) malady

Genetic diseases, Eye diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Achromatopsia

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8Disease Ontology, 65Wikipedia, 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 night blindness and blindness. An important gene associated with Achromatopsia is PDE6C (phosphodiesterase 6C, cGMP-specific, cone, alpha prime), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Nanog in Mammalian ESC Pluripotency. The compounds sildenafil citrate and cilostamide have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related mouse phenotypes are nervous system and vision/eye.

Wikipedia:65 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five separate... more...

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

GeneReviews summary for achm

Aliases & Classifications for Achromatopsia

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Sources:
8Disease Ontology, 19GeneReviews, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 31LifeMap Discovery™, 62UMLS, 47OMIM, 58SNOMED-CT, 27ICD9CM, 35MeSH, 40NCIt
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Classifications:



Aliases & Descriptions:

achromatopsia 8 19 20 22 10 45 31 62
total color blindness 19
rod monochromatism 19
monochromatism 8
achm 8


External Ids:

Disease Ontology8 DOID:13911
ICD9CM27 368.54
SNOMED-CT58 56852002
MeSH35 D003117
NCIt40 C84528

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1night blindness30.3NR2E3, NYX, GNAZ
2blindness30.3NR2E3
3blue cone monochromacy30.3TEX28, TEX28P2, NYX, CNGB3, CNGA3
4color blindness30.2TEX28, TEX28P2, CNGB3, CNGA3, PDE6H
5congenital nystagmus29.9CNGA3, CNGB3, GNAT2
6cerebritis10.5
7achromatopsia 210.5
8achromatopsia 310.3
9blue cone monochromatism10.3
10achromatopsia 410.3
11amblyopia10.2
12achromatopsia 510.2
13achromatopsia 610.2
14vitiligo10.2
15blue-mono-cone-monochromatic type colorblindness10.2
16albinism10.2
17color agnosia10.1
18vitelliform macular dystrophy10.1
19cone dystrophy10.1
20retinitis10.1
21goldmann-favre syndrome10.0CNGA3, NR2E3
22rhyns syndrome10.0CNGB1, NR2E3
23intracranial aneurysm10.0
24folliculitis10.0
25cheilitis10.0
26dermatitis10.0
27pulmonary embolism10.0
28prurigo nodularis10.0
29aneurysm10.0
30chronic actinic dermatitis10.0
31anosognosia9.9
32alzheimer's disease9.9
33cortical blindness9.9
34prosopagnosia9.9
35vertebrobasilar insufficiency9.9
36agnosia9.9
37migraine9.9
38refractive error9.9
39optic atrophy type 19.9
40behr syndrome9.9
41cone-rod dystrophy 29.9
42cone-rod dystrophy amelogenesis imperfecta9.9
43nystagmus 1, congenital, x- linked9.9
44retinohepatoendocrinologic syndrome9.9
45spondylometaphyseal dysplasia with cone-rod dystrophy9.9
46cone dystrophy 39.9
47macular dystrophy9.9
48thalassemia, hispanic gamma-delta-beta9.9
49foveal hypoplasia9.9
50foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis9.9

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

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47OMIM
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Clinical features from OMIM:

262300,216900,610024,613093,613856

Drugs & Therapeutics for Achromatopsia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Achromatopsia

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Achromatopsia:

33
Eye, Cortex

Animal Models for Achromatopsia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Achromatopsia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.8GNAT2, CNGB3, CNGA3, CNGB1, PDE6C, NR2E3
2MP:00053917.5NR2E3, GNAT2, NYX, CNGB3, CNGA3, CNGB1

Publications for Achromatopsia

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52PubMed
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Articles related to Achromatopsia:

(show top 50)    (show all 135)
idTitleAuthorsYear
1
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
2
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013
3
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
4
Clinical utility gene card for: Achromatopsia - update 2013. (23486539)
2013
5
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America. (23362848)
2013
6
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
7
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
8
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. (21576125)
2011
9
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
10
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. (21107338)
2011
11
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
12
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
13
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
14
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
15
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
16
Anosognosia for cerebral achromatopsia--a longitudinal case study. (19944708)
2010
17
Gene therapy rescues cone function in congenital achromatopsia. (20378608)
2010
18
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
19
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
20
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. (16505054)
2006
21
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
22
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (15712225)
2005
23
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
24
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
25
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
26
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (15557429)
2004
27
Achromatopsia, color vision, and cortex. (12916488)
2003
28
Clinical features of achromatopsia in Swedish patients with defined genotypes. (12187429)
2002
29
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. (12140185)
2002
30
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. (10330355)
1999
31
A locus for autosomal recessive achromatopsia on human chromosome 8q. (10466422)
1999
32
Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. (7728111)
1995
33
Cerebral achromatopsia in monkeys. (7613611)
1995
34
Eye and head movements in patients with achromatopsia. (7926869)
1994
35
On the role of parvocellular (P) and magnocellular (M) pathways in cerebral achromatopsia. (8186952)
1994
36
Achromatopsia in the aura of migraine. (8509791)
1993
37
Incomplete achromatopsia in Alzheimer's disease. (8247229)
1993
38
Color perception profiles in central achromatopsia. (8492959)
1993
39
Achromatopsia (20301591)
1993
40
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
41
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. (6965660)
1980
42
Central achromatopsia: behavioral, anatomic, and physiologic aspects. (6968419)
1980
43
Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden. (316638)
1979
44
Congenital achromatopsia in a Finnish family. (308762)
1978
45
Pingelap and Mokil Atolls: achromatopsia. (4555088)
1972
46
Achromatopsia in Pingelap Islanders. Study of a genetic isolate. (5315519)
1971
47
ELECTRORETINOGRAPHIC FINDINGS (INCLUDING FLICKER) IN CARRIERS OF CONGENITAL X-LINKED ACHROMATOPSIA. (14214278)
1964
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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Expression for genes affiliated with Achromatopsia

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2BioGPS, 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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50PathCards, 53QIAGEN, 12EMD Millipore, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Achromatopsia

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61Tocris Bioscience, 45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Achromatopsia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1sildenafil citrate6110.0PDE6C, PDE6H
2cilostamide61 45 2912.0PDE6C, PDE6H
3(r)-(-)-rolipram6110.0PDE6C, PDE6H
4rolipram45 61 2911.8PDE6H, PDE6C
5g-protein antagonist peptide619.7GNAZ, GNAT2
6gallein619.7GNAZ, GNAT2
7suramin hexasodium salt619.6GNAZ, GNAT2
88-bromo-cgmp, sodium salt619.5GNAZ, GNAT2
9Cyclic GMP249.5PDE6H, PDE6C, CNGA3, CNGB3
10cgmp45 2910.4GNAZ, CNGA3, CNGB1
11pertussis toxin619.3GNAZ, GNAT2
12cyclic amp45 2410.2PDE6H, CNGB1, CNGA3, CNGB3
13Guanosine monophosphate248.9GNAZ, GNAT2, CNGA3, PDE6C, PDE6H

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:0426229.8CNGA3, GNAT2
2photoreceptor outer segmentGO:0017509.7CNGB3, GNAT2
3extrinsic component of cytoplasmic side of plasma membraneGO:0312349.6GNAT2, GNAZ
4heterotrimeric G-protein complexGO:0058349.3GNAT2, GNAZ

Biological processes related to Achromatopsia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1phototransductionGO:0076029.7NR2E3, GNAT2
2retinal cone cell developmentGO:0465499.7GNAT2, CNGA3, PDE6C
3response to stimulusGO:0508969.6PDE6H, NYX
4adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:0071889.5GNAZ, GNAT2
5potassium ion transmembrane transportGO:0718059.4CNGB3, CNGA3, CNGB1
6regulation of membrane potentialGO:0423919.4CNGB1, CNGA3, CNGB3
7phototransduction, visible lightGO:0076039.2PDE6C, CNGB1, CNGA3, CNGB3
8transportGO:0068109.0CNGB1, CNGA3, CNGB3
9visual perceptionGO:0076017.7NR2E3, PDE6H, PDE6C, CNGB1, CNGA3, CNGB3

Molecular functions related to Achromatopsia according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:0475559.7PDE6H, PDE6C
2G-protein beta/gamma-subunit complex bindingGO:0316839.6GNAT2, GNAZ
3intracellular cGMP activated cation channel activityGO:0052239.4CNGB1, CNGA3, CNGB3
4intracellular cAMP activated cation channel activityGO:0052229.4CNGB1, CNGB3, CNGA3
5ligand-gated ion channel activityGO:0152769.3CNGB1, CNGA3
6voltage-gated potassium channel activityGO:0052499.3CNGB3, CNGB1, CNGA3
7cGMP bindingGO:0305538.8CNGA3, CNGB1, PDE6C, PDE6H, CNGB3

Products for genes affiliated with Achromatopsia

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  • Antibodies
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Sources for Achromatopsia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet