MCID: ACH003
MIFTS: 50

Achromatopsia malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia

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Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 27ICD10, 29ICD9CM, 36MeSH, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Achromatopsia:

Name: Achromatopsia 32 10 21 22 23 47 12 51 24 65
Total Color Blindness 22 23 51
Rod Monochromatism 22 23 51
Rod Monochromacy 22 51
Achm 10 51
Complete or Incomplete Color Blindness 51
 
Pingelapese Blindness 51
Achromatopsia 3 65
Achromatopsia 1 65
Achromatopsia 2 65
Monochromatism 10
Achromatism 23

Characteristics:

Orphanet epidemiological data:

51
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:13911
ICD1027 H53.51
ICD9CM29 368.54
MeSH36 D003117
SNOMED-CT59 56852002
NCIt42 C84528
Orphanet51 49382
UMLS via Orphanet66 C0152200
ICD10 via Orphanet28 H53.5
UMLS65 C0152200, C0302129, C1857618 C1849792, more

Summaries for Achromatopsia

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Genetics Home Reference:23 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 leukemia and influenza. An important gene associated with Achromatopsia is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3), and among its related pathways are Diseases associated with visual transduction and Opsins. Affiliated tissues include breast, eye and prostate, and related mouse phenotypes are nervous system and vision/eye.

Disease Ontology:10 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:68 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five conditions.... 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 top 50)    (show all 164)
idRelated DiseaseScoreTop Affiliating Genes
1leukemia30.5CNGA3, CNGB3, NRL, RPGR
2influenza29.8NR2E3, NRL, RPGR
3achromatopsia 712.5
4achromatopsia 512.4
5achromatopsia-312.1
6achromatopsia-212.0
7blue cone monochromacy12.0
8achromatopsia-411.9
9retinal cone dystrophy 311.6
10red color blindness10.4CNGB3, OPN1MW
11waisman syndrome10.4OPN1LW, OPN1MW
12nephrosclerosis10.4CNGB3, OPN1SW
13riboflavin transporter deficiency neuronopathy10.4OPN1LW, OPN1MW
14gollop coates syndrome10.4NR2E3, NRL
15primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.3CNGA3, CNGB3, GNAT2, PDE6C
16systolic heart failure10.3CNGA3, CNGB3, SLC38A8
17endotheliitis10.3
18retinitis pigmentosa 3710.3CNGA3, NR2E3, NRL
19obesity10.3
20foveal hypoplasia 110.3
21foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.3
22nystagmus 1, congenital, x-linked10.3
23breast cancer10.3
24pathologic nystagmus10.3CNGA3, SLC38A8
25rheumatic congestive heart failure10.3CNGB3, RS1
26proximal myopathy and ophthalmoplegia10.2CNGA3, CNGB3, GNAT2, PDE6C, RPGR
27lung cancer10.2
28hepatitis10.2
29jalili syndrome10.2CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
30spondyloepiphyseal dysplasia tarda10.1CNGB3, RS1
31naegeli-franceschetti-jadassohn syndrome10.1CNNM4, GNAT2, RPGR
32cortical blindness10.1NYX, OPN1LW, RPGR
33schizophrenia10.1
34myelofibrosis10.1
35adenocarcinoma10.1
36neuronitis10.1
37spasticity10.1
38deficiency anemia10.0CNGB3, GNAT2, PDE6H, RPGR, RS1
39colorblindness, deutan10.0CNGA3, CNGB3, OPN1LW, OPN1MW, OPN1MW2
40achalasia microcephaly syndrome10.0CNGB3, OPN1LW, OPN1MW, PDE6C, PDE6H, RPGR
41neuroblastoma10.0
42medulloblastoma10.0
43marshall syndrome10.0
44systemic lupus erythematosus10.0
45ichthyosis vulgaris10.0
46hiv-110.0
47melioidosis10.0
48ovarian hyperstimulation syndrome10.0
49hepatocellular carcinoma10.0
50alkaptonuria10.0

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

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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 Achromatopsia22 PDE6C

Anatomical Context for Achromatopsia

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MalaCards organs/tissues related to Achromatopsia:

33
Breast, Eye, Prostate, Neutrophil, B cells, Testis, T cells

Animal Models for Achromatopsia or affiliated genes

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MGI Mouse Phenotypes related to Achromatopsia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.2CNGA3, CNGB3, GNAT2, GNAZ, NR2E3, NRL
2MP:00053917.7CNGA3, CNGB3, CNNM4, GNAT2, NR2E3, NRL

Publications for Achromatopsia

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Articles related to Achromatopsia:

(show top 50)    (show all 168)
idTitleAuthorsYear
1
Unmasking of myasthenia gravis during pegylated Alfa 2 a interferon and ribavirin therapy for chronic hepatitis C. (27183950)
2016
2
New tumour antigen PLAC1/CP1, a potentially useful prognostic marker and immunotherapy target for gastric adenocarcinoma. (26157147)
2015
3
Metastasis of ciliary body melanoma to the contralateral eye: a case report and review of uveal melanoma literature. (25874144)
2015
4
Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. (24572674)
2014
5
Functional relationship between matrix metalloproteinase-11 and matrix metalloproteinase-14. (25081520)
2014
6
Transcriptional repressor NIR interacts with the p53-inhibiting ubiquitin ligase MDM2. (24413661)
2014
7
Genome-wide association study reveals a complex genetic architecture underpinning-induced CYP3A4 enzyme activity. (22945461)
2013
8
Plekhg4 is a novel Dbl family guanine nucleotide exchange factor protein for rho family GTPases. (23572525)
2013
9
Primary lymphoepithelioma-like carcinoma of ocular adnexa: clinicopathologic features and treatment. (23559878)
2013
10
Activin A promotes hematopoietic fated mesoderm development through upregulation of brachyury in human embryonic stem cells. (22548442)
2012
11
A proposal for revision of hemicrania continua diagnostic criteria based on critical analysis of 62 patients. (22751966)
2012
12
Infiltrative gastric adenocarcinoma in a chinchilla (Chinchilla lanigera). (22621945)
2012
13
Low dose of ketoconazole in patients with prostate adenocarcinoma resistant to pharmacological castration. (21078047)
2011
14
Topical review: cluster headache and sleep-related breathing disorders. (22247924)
2011
15
Bioimpedance in the assessment of unilateral lymphedema of a limb: the optimal frequency. (21688978)
2011
16
The effects of adiponectin on interleukin-6 and MCP-1 secretion in lipopolysaccharide-treated 3T3-L1 adipocytes: role of the NF-kappaB pathway. (19885628)
2009
17
Individual and combined action of pancreatic lipase and pancreatic lipase-related proteins 1 and 2 on native versus homogenized milk fat globules. (19824014)
2009
18
ESAT6-induced IFNgamma and CXCL9 can differentiate severity of tuberculosis. (19340290)
2009
19
Septic arthritis: clinical audits would help optimise the management. (18795395)
2008
20
The LIM-homeobox gene Islet-1 is required for the development of restricted forebrain cholinergic neurons. (18367596)
2008
21
Glucocorticoid regulation of the promoter of 11beta-hydroxysteroid dehydrogenase type 1 is indirect and requires CCAAT/enhancer-binding protein-beta. (18617597)
2008
22
Lactosylceramide alpha2,3-sialyltransferase is induced via a PKC/ERK/CREB-dependent pathway in K562 human leukemia cells. (17464189)
2007
23
Transcription of the KLRB1 gene is suppressed in human cancer tissues]. (18159636)
2007
24
Meniere's disease: rare or underdiagnosed among Africans. (17610076)
2007
25
Synaptotagmin VII modulates the kinetics of dense-core vesicle exocytosis in PC12 cells. (17397398)
2007
26
Cyclin D1 is transcriptionally regulated by and required for transformation by activated signal transducer and activator of transcription 3. (16510571)
2006
27
Transporters as a determinant of drug clearance and tissue distribution. (16488580)
2006
28
Kinetic study of paracetamol on prolidase activity in erythrocytes by capillary electrophoresis with Ru(bpy)(3) (2+) electrochemiluminescence detection. (16991207)
2006
29
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. (15690368)
2005
30
Transcriptional induction of cholinesterase expression and protection against chemical warfare nerve agents. (16429504)
2005
31
Apoptosis index is a predictor of metastatic phenotype in patients with early stage squamous carcinoma of the tongue: a hypothesis to support this paradoxical association. (11169941)
2001
32
Human stoned B interacts with AP-2 and synaptotagmin and facilitates clathrin-coated vesicle uncoating. (11454741)
2001
33
Plasma levels of calcitonin gene-related peptide in chronic tension-type headache. (11087777)
2000
34
Paradoxical effects of resveratrol on the two prostaglandin H synthases. (9785383)
1998
35
Inhibition of dopamine and choline acetyltransferase concentrations in rat CNS neurons by rat alpha 1- and alpha 2-macroglobulins. (9514208)
1998
36
The cellular retinoic acid binding protein II is a positive regulator of retinoic acid signaling in breast cancer cells. (9135005)
1997
37
Insulin-like growth factors I and II stimulate extracellular matrix production in human glomerular mesangial cells. Comparison with transforming growth factor-beta. (8603598)
1996
38
Squamous cell carcinoma antigen is a potent inhibitor of cysteine proteinase cathepsin L. (7851535)
1995
39
Radiofrequency catheter ablation for Wolff-Parkinson White syndrome. Part 2: Preventing complications. (7882861)
1994
40
Case report: diabetes mellitus as a predisposing factor in the development of pyomyositis. (7942986)
1994
41
Changes in gastric mucosal ornithine decarboxylase and tyrosine phosphorylation of proteins in postgastrectomy patients. (8362214)
1993
42
Isoniazid acetylating phenotype in patients with paracoccidioidomycosis and its relationship with serum sulfadoxin levels, glucose-6-phosphate dehydrogenase and glutathione reductase activities. (1841426)
1991
43
The blink reflex in patients with idiopathic torsion dystonia. (2322135)
1990
44
Meningococcal meningitis. (2390560)
1990
45
Subacute cutaneous lupus erythematosus. Clinical, serologic, immunogenetic, and therapeutic considerations in seventy-two patients. (3261587)
1988
46
Concomitant pulmonary aspergillosis and nocardiosis in a patient with chronic granulomatous disease of childhood. (6701605)
1984
47
Nephronophthisis with massive proteinuria. (6189393)
1983
48
Histologic differential diagnostic problems for oral discoid lupus erythematosus. (824218)
1976
49
Cor pulmonale. (4151572)
1974
50
Lathyrism. Some aspects of the disease in man and amimals. (14025206)
1962

Variations for Achromatopsia

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Clinvar genetic disease variations for Achromatopsia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
2CNGA3NM_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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Biological processes related to Achromatopsia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation transmembrane transportGO:009865510.2CNGA3, CNGB1, CNGB3
2regulation of membrane potentialGO:004239110.2CNGA3, CNGB1, CNGB3
3cellular response to light stimulusGO:007148210.2OPN1LW, OPN1MW, OPN1MW2
4positive regulation of cytokinesisGO:003246710.2OPN1LW, OPN1MW, OPN1MW2
5protein foldingGO:000645710.1ATF6, GNAT2, GNAZ
6signal transductionGO:00071659.4ATF6, CNGA3, CNGB3, GNAT2, NR2E3, PDE6C
7G-protein coupled receptor signaling pathwayGO:00071868.9GNAT2, OPN1LW, OPN1MW, OPN1MW2, OPN1SW
8visual perceptionGO:00076018.9GNAT2, NR2E3, OPN1LW, OPN1MW, OPN1MW2, OPN1SW

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

idNameGO IDScoreTop Affiliating Genes
1cGMP bindingGO:003055310.2CNGA3, CNGB3
2G-protein beta/gamma-subunit complex bindingGO:003168310.0GNAT2, GNAZ

Sources for Achromatopsia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet