MCID: ACH003
MIFTS: 51

Achromatopsia malady

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Achromatopsia

About this section
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

About this section
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 jalili syndrome and cortical blindness, and has symptoms including photophobiaand photophobia. 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 prostate, eye and testis, 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

About this section

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1jalili syndrome30.1CNGA3, CNGB3, CNNM4, GNAT2, PDE6C
2cortical blindness30.0NYX, OPN1LW, RPGR
3achromatopsia 712.1
4achromatopsia 512.0
5achromatopsia-311.7
6achromatopsia-211.7
7blue cone monochromacy11.6
8achromatopsia-411.5
9retinal cone dystrophy 311.2
10red color blindness10.6CNGB3, OPN1MW
11waisman syndrome10.6OPN1LW, OPN1MW
12nephrosclerosis10.6CNGB3, OPN1SW
13riboflavin transporter deficiency neuronopathy10.6OPN1LW, OPN1MW
14gollop coates syndrome10.5NR2E3, NRL
15primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency10.5CNGA3, CNGB3, GNAT2, PDE6C
16systolic heart failure10.5CNGA3, CNGB3, SLC38A8
17retinitis pigmentosa 3710.4CNGA3, NR2E3, NRL
18cerebritis10.4
19pathologic nystagmus10.4CNGA3, SLC38A8
20rheumatic congestive heart failure10.4CNGB3, RS1
21retinitis10.4
22proximal myopathy and ophthalmoplegia10.3CNGA3, CNGB3, GNAT2, PDE6C, RPGR
23color blindness10.2
24leukemia10.2CNGA3, CNGB3, NRL, RPGR
25spondyloepiphyseal dysplasia tarda10.2CNGB3, RS1
26naegeli-franceschetti-jadassohn syndrome10.2CNNM4, GNAT2, RPGR
27amblyopia10.1
28deficiency anemia10.1CNGB3, GNAT2, PDE6H, RPGR, RS1
29neuronitis10.0
30colorblindness, deutan10.0CNGA3, CNGB3, OPN1LW, OPN1MW, OPN1MW2
31cone dystrophy10.0
32achalasia microcephaly syndrome10.0CNGB3, OPN1LW, OPN1MW, PDE6C, PDE6H, RPGR
33night blindness9.9
34dementia9.9
35foveal hypoplasia 19.9
36foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis9.9
37nystagmus 1, congenital, x-linked9.9
38exudative vitreoretinopathy9.9CNGB3, GNAZ, NYX, RPGR, RS1
39influenza9.8NR2E3, NRL, RPGR
40cone-rod dystrophy9.8
41retinitis pigmentosa9.8
42anosognosia9.8
43vertebrobasilar insufficiency9.8
44agnosia9.8
45prosopagnosia9.8
46retinal disease9.8
47congenital nystagmus9.8
48refractive error9.8
49embryonal testis carcinoma9.7CNGA3, CNGB3, NRL, NYX, RPGR, RS1
50vaginal glandular tumor9.4CNGA3, CNGB3, CNNM4, GNAT2, OPN1LW, OPN1MW

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

About this section

UMLS symptoms related to Achromatopsia:


photophobia

Drugs & Therapeutics for Achromatopsia

About this section

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

About this section

Genetic tests related to Achromatopsia:

id Genetic test Affiliating Genes
1 Achromatopsia22 PDE6C

Anatomical Context for Achromatopsia

About this section

MalaCards organs/tissues related to Achromatopsia:

33
Prostate, Eye, Testis, Breast, Heart, Endothelial, B cells

Animal Models for Achromatopsia or affiliated genes

About this section

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

About this section

Articles related to Achromatopsia:

(show top 50)    (show all 176)
idTitleAuthorsYear
1
Dissociations in Coherence Sensitivity Reveal Atypical Development of Cortical Visual Processing in Congenital Achromatopsia. (27124317)
2016
2
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases. (26603570)
2016
3
Loss of HCN1 enhances disease progression in mouse models of CNG channel-linked retinitis pigmentosa and achromatopsia. (26740549)
2016
4
Achromatopsia: on the doorstep of a possible therapy. (26304472)
2015
5
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia. (25855802)
2015
6
Achromatopsia caused by novel missense mutations in the CNGA3 gene. (26558200)
2015
7
Achromatopsia: a review. (26196097)
2015
8
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. (25616768)
2015
9
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. (25204753)
2014
10
Multimodal retinal imaging in achromatopsia. (25372195)
2014
11
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
12
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013
13
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
14
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
15
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
16
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. (21576125)
2011
17
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
18
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. (21107338)
2011
19
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
20
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
21
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
22
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
23
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
24
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
25
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
26
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. (16505054)
2006
27
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
28
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (15712225)
2005
29
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
30
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
31
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
32
Achromatopsia, color vision, and cortex. (12916488)
2003
33
Clinical features of achromatopsia in Swedish patients with defined genotypes. (12187429)
2002
34
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. (10330355)
1999
35
Centrally tinted contact lenses. A useful visual aid for patients with achromatopsia. (7728111)
1995
36
Cerebral achromatopsia in monkeys. (7613611)
1995
37
Eye and head movements in patients with achromatopsia. (7926869)
1994
38
Achromatopsia in the aura of migraine. (8509791)
1993
39
Incomplete achromatopsia in Alzheimer's disease. (8247229)
1993
40
Color perception profiles in central achromatopsia. (8492959)
1993
41
Aversion to daytime illumination in patients with congenital achromatopsia. (3496584)
1987
42
Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. (6965660)
1980
43
Central achromatopsia: behavioral, anatomic, and physiologic aspects. (6968419)
1980
44
Eight cases of congenital achromatopsia with amblyopia in two pedigrees from Northern Sweden. (316638)
1979
45
Congenital achromatopsia in a Finnish family. (308762)
1978
46
Pingelap and Mokil Atolls: achromatopsia. (4555088)
1972
47
Achromatopsia in Pingelap Islanders. Study of a genetic isolate. (5315519)
1971
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

About this section

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

About this section
Search GEO for disease gene expression data for Achromatopsia.

Pathways for genes affiliated with Achromatopsia

About this section

GO Terms for genes affiliated with Achromatopsia

About this section

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

About this section
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