ACHM
MCID: ACH003
MIFTS: 55

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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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 based summary: Achromatopsia, also known as total color blindness, is related to blindness and congenital nystagmus. 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, cortex and testes, 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...

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

GeneReviews summary for achm

Aliases & Classifications for Achromatopsia

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Achromatopsia, Aliases & Descriptions:

Name: Achromatopsia 30 8 19 20 22 10 44 62
Total Color Blindness 19 62
Rod Monochromatism 19 62
 
Monochromatism 8 62
Achm 8


Classifications:



External Ids:

Disease Ontology8 DOID:13911
NCIt39 C84528
SNOMED-CT57 56852002
ICD9CM27 368.54
MeSH34 D003117

Related Diseases for Achromatopsia

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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
1blindness30.6NR2E3
2congenital nystagmus30.1CNGA3, CNGB3, GNAT2
3night blindness30.0NR2E3, NYX, GNAZ
4color blindness29.9TEX28, TEX28P2, CNGB3, CNGA3, PDE6H
5blue cone monochromacy29.8TEX28, TEX28P2, NYX, CNGB3, CNGA3
6cerebritis10.6
7achromatopsia 210.5
8retinitis10.4
9achromatopsia 310.4
10blue cone monochromatism10.3
11achromatopsia 410.3
12achromatopsia 610.3
13amblyopia10.3
14achromatopsia 510.3
15vitiligo10.2
16blue-mono-cone-monochromatic type colorblindness10.2
17albinism10.2
18goldmann-favre syndrome10.1CNGA3, NR2E3
19vitelliform macular dystrophy10.1
20cone dystrophy10.1
21color agnosia10.1
22rhyns syndrome10.1NR2E3, CNGB1
23folliculitis10.0
24intracranial aneurysm10.0
25cheilitis10.0
26dermatitis10.0
27pulmonary embolism10.0
28prurigo nodularis10.0
29aneurysm10.0
30chronic actinic dermatitis10.0
31alzheimer's disease10.0
32cone-rod dystrophy10.0
33vertebrobasilar insufficiency10.0
34cortical blindness10.0
35prosopagnosia10.0
36anosognosia10.0
37agnosia10.0
38migraine10.0
39refractive error10.0
40opa3-related 3-methylglutaconic aciduria10.0
41behr syndrome10.0
42cone-rod dystrophy 210.0
43cone-rod dystrophy amelogenesis imperfecta10.0
44nystagmus 1, congenital, x- linked10.0
45retinohepatoendocrinologic syndrome10.0
46spondylometaphyseal dysplasia with cone-rod dystrophy10.0
47hypogonadotropic hypogonadism 9 with or without anosmia10.0
48macular dystrophy10.0
49thalassemia, hispanic gamma-delta-beta10.0
50foveal hypoplasia 110.0

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

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Clinical features from OMIM:

613856,613093,216900,610024,262300

Drugs & Therapeutics for Achromatopsia

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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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Genetic tests related to Achromatopsia:

id Genetic test Affiliating Genes
1 Achromatopsia20 22 PDE6C

Anatomical Context for Achromatopsia

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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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MGI Mouse Phenotypes related to Achromatopsia:

36
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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Articles related to Achromatopsia:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. (25204753)
2014
2
Multimodal retinal imaging in achromatopsia. (25372195)
2014
3
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
4
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (24676353)
2014
5
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013
6
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
7
Clinical utility gene card for: Achromatopsia - update 2013. (23486539)
2013
8
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
9
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
10
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. (21576125)
2011
11
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
12
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. (21107338)
2011
13
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
14
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
15
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
16
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
17
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
18
Anosognosia for cerebral achromatopsia--a longitudinal case study. (19944708)
2010
19
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
20
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
21
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. (16505054)
2006
22
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
23
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (15712225)
2005
24
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
25
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
26
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
27
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (15557429)
2004
28
Achromatopsia, color vision, and cortex. (12916488)
2003
29
Clinical features of achromatopsia in Swedish patients with defined genotypes. (12187429)
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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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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Compounds for genes affiliated with Achromatopsia

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Sources:
61Tocris Bioscience, 44Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Achromatopsia according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1sildenafil citrate6110.0PDE6C, PDE6H
2cilostamide61 44 2812.0PDE6C, PDE6H
3(r)-(-)-rolipram6110.0PDE6C, PDE6H
4rolipram44 61 2811.8PDE6H, 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
10cgmp44 2810.4GNAZ, CNGA3, CNGB1
11pertussis toxin619.3GNAZ, GNAT2
12cyclic amp44 2410.2PDE6H, CNGB1, CNGA3, CNGB3
13Guanosine monophosphate248.9GNAZ, GNAT2, CNGA3, PDE6C, PDE6H

GO Terms for genes affiliated with Achromatopsia

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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:0475559.7PDE6C, PDE6H
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:0052229.4CNGB3, CNGA3, CNGB1
5ligand-gated ion channel activityGO:0152769.3CNGB1, CNGA3
6voltage-gated potassium channel activityGO:0052499.3CNGB1, CNGA3, CNGB3
7cGMP bindingGO:0305538.8PDE6H, PDE6C, CNGB1, CNGA3, CNGB3

Products for genes affiliated with Achromatopsia

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  • Antibodies
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet