MCID: ACH003
MIFTS: 49

Achromatopsia malady

Genetic diseases, Eye diseases, Rare diseases categories

Aliases & Classifications for Achromatopsia

About this section
Sources:
30LifeMap Discovery®, 9Disease Ontology, 19GeneReviews, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 33MeSH, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Achromatopsia, Aliases & Descriptions:

Name: Achromatopsia 30 9 19 20 21 11 43 47 22 60
Total Color Blindness 19 21 47
Rod Monochromatism 19 21 47
Achm 9 47
Complete or Incomplete Color Blindness 47
Pingelapese Blindness 47
 
Rod Monochromacy 47
Achromatopsia 3 60
Achromatopsia 1 60
Achromatopsia 2 60
Monochromatism 9
Achromatism 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases
Orphanet: 47 
Rare eye diseases


Characteristics (Orphanet epidemiological data):

47
achromatopsia:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:13911
ICD9CM27 368.54
MeSH33 D003117
NCIt38 C84528
SNOMED-CT55 56852002
Orphanet47 49382
ICD10 via Orphanet26 H53.5
UMLS via Orphanet61 C0152200

Summaries for Achromatopsia

About this section


Genetics Home Reference:21 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 blindness and cone dystrophy. An important gene associated with Achromatopsia is CNGB3 (cyclic nucleotide gated channel beta 3), and among its related pathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Potassium transporters inward current. 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.

Disease Ontology:9 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.

Wikipedia:63 Achromatopsia (ACHM) is a medical syndrome that exhibits symptoms relating to at least five conditions.... more...

GeneReviews summary for achm

Related Diseases for Achromatopsia

About this section

Diseases in the Achromatopsia family:

Achromatopsia-4 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 55)
idRelated DiseaseScoreTop Affiliating Genes
1blindness30.6NR2E3, RPGR
2cone dystrophy30.6CNGA3, RPGR
3blue cone monochromacy30.2TEX28, NYX, CNGB3, CNGA3, TEX28P2
4congenital nystagmus30.2GNAT2, CNGA3, CNGB3
5color blindness30.1TEX28, TEX28P2, CNGB3, CNGA3, PDE6H
6cone-rod dystrophy30.0GNAT2, RPGR
7night blindness30.0GNAZ, NYX, RPGR, NR2E3
8cerebritis10.6
9achromatopsia-210.4
10retinitis10.4
11achromatopsia-410.4
12achromatopsia-310.4
13retinal cone dystrophy 310.3
14achromatopsia 510.3
15amblyopia10.3
16leber congenital amaurosis10.3RPGR
17enhanced s-cone syndrome10.2NR2E3, CNGA3
18neuronitis10.2
19albinism10.2
20jalili syndrome10.1
21tuberous sclerosis-110.0
22tsc2 angiomyolipomas, renal, modifier of10.0
23dementia10.0
24central serous chorioretinopathy10.0
25corticobasal degeneration10.0
26bell's palsy10.0
27folliculitis10.0
28cheilitis10.0
29dermatitis10.0
30intracranial aneurysm10.0
31pulmonary embolism10.0
32prurigo nodularis10.0
33aneurysm10.0
34chronic actinic dermatitis10.0
35fundus dystrophy10.0CNGA3, RPGR
36spondylometaphyseal dysplasia with cone-rod dystrophy10.0
37macular dystrophy, vitelliform, 310.0
38foveal hypoplasia 110.0
39cone-rod dystrophy 610.0
40nystagmus 1, congenital, x-linked10.0
41migraine10.0
42thalassemia, hispanic gamma-delta-beta10.0
43foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.0
44anosognosia10.0
45cortical blindness10.0
46prosopagnosia10.0
47kallmann syndrome10.0
48vertebrobasilar insufficiency10.0
49agnosia10.0
50refractive error10.0

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to achromatopsia

Symptoms for Achromatopsia

About this section

Drugs & Therapeutics for Achromatopsia

About this section

Drug clinical trials:

Search ClinicalTrials for Achromatopsia

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 Achromatopsia20 22 PDE6C

Anatomical Context for Achromatopsia

About this section

MalaCards organs/tissues related to Achromatopsia:

31
Eye, Cortex, Testes

Animal Models for Achromatopsia or affiliated genes

About this section

MGI Mouse Phenotypes related to Achromatopsia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.5GNAT2, RPGR, CNGB3, CNGA3, CNGB1, PDE6C
2MP:00053917.2NR2E3, GNAT2, NYX, RPGR, CNGB3, CNGA3

Publications for Achromatopsia

About this section

Articles related to Achromatopsia:

(show top 50)    (show all 155)
idTitleAuthorsYear
1
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. (25616768)
2015
2
Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation. (25204753)
2014
3
Multimodal retinal imaging in achromatopsia. (25372195)
2014
4
Retinal structure and function in achromatopsia: implications for gene therapy. (24148654)
2014
5
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (24676353)
2014
6
Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. (23601474)
2013
7
A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype. (23580486)
2013
8
Clinical utility gene card for: Achromatopsia - update 2013. (23486539)
2013
9
Optical coherence tomography in the diagnosis of achromatopsia. (24269402)
2012
10
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. (22901948)
2012
11
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. (21576125)
2011
12
Identification of variants in CNGA3 as cause for achromatopsia by exome sequencing of a single patient. (21911670)
2011
13
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. (21107338)
2011
14
An extended 15A Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2. (21947599)
2011
15
High-resolution in vivo imaging in achromatopsia. (21211844)
2011
16
Photoreceptor structure and function in patients with congenital achromatopsia. (21778272)
2011
17
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. (20454696)
2010
18
Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit. (20238023)
2010
19
Anosognosia for cerebral achromatopsia--a longitudinal case study. (19944708)
2010
20
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. (16961972)
2006
21
Behavioral deficits and cortical damage loci in cerebral achromatopsia. (15858161)
2006
22
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. (16505054)
2006
23
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. (15657609)
2005
24
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. (15712225)
2005
25
Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features. (14736779)
2004
26
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. (14757870)
2004
27
Chromatic edges, surfaces and constancies in cerebral achromatopsia. (15037060)
2004
28
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. (15557429)
2004
29
Achromatopsia, color vision, and cortex. (12916488)
2003
30
Clinical features of achromatopsia in Swedish patients with defined genotypes. (12187429)
2002
31
Homozygosity mapping of the Achromatopsia locus in the Pingelapese. (10330355)
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

About this section

Clinvar genetic disease variations for Achromatopsia:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1GNAT2NM_005272.3(GNAT2): c.235C> T (p.Gln79Ter)single nucleotide variantPathogenicrs121434585GRCh37Chr 1, 110152730: 110152730
2GNAT2GNAT2, 4-BP INS, 842TCAGinsertionPathogenic
3GNAT2GNAT2, NT285, 7-BP DEL/6-BP INSindelPathogenic
4GNAT2NM_005272.3(GNAT2): c.461+24G> Asingle nucleotide variantPathogenicrs397515384GRCh37Chr 1, 110151229: 110151229
5CNGB3NM_019098.4(CNGB3): c.1304C> T (p.Ser435Phe)single nucleotide variantPathogenicrs121918344GRCh37Chr 8, 87644996: 87644996
6CNGB3NM_019098.4(CNGB3): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs267606739GRCh37Chr 8, 87680283: 87680283
7CNGB3CNGB3, 1-BP INS, 492TinsertionPathogenic
8CNGB3NM_019098.4(CNGB3): c.1148delC (p.Thr383Ilefs)deletionPathogenicrs397515360GRCh37Chr 8, 87656009: 87656009
9CNGB3CNGB3, 8-BP DEL, NT819deletionPathogenic
10PDE6HPDE6H, -29G-C, 5-PRIME UTRsingle nucleotide variantPathogenic
11PDE6CNM_006204.3(PDE6C): c.85C> T (p.Arg29Trp)single nucleotide variantPathogenicrs121918537GRCh37Chr 10, 95372567: 95372567

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

Compounds for genes affiliated with Achromatopsia

About this section
Sources:
59Tocris Bioscience, 43Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Achromatopsia according to GeneCards Suite gene sharing:

(show all 13)
idCompoundScoreTop Affiliating Genes
1sildenafil citrate5910.1PDE6H, PDE6C
2cilostamide59 43 2812.0PDE6C, PDE6H
3(r)-(-)-rolipram5910.0PDE6C, PDE6H
4rolipram43 59 2811.9PDE6C, PDE6H
5pertussis toxin599.8GNAZ, GNAT2
68-bromo-cgmp, sodium salt599.7GNAT2, GNAZ
7suramin hexasodium salt599.7GNAT2, GNAZ
8g-protein antagonist peptide599.6GNAZ, GNAT2
9Cyclic GMP249.5PDE6H, PDE6C, CNGA3, CNGB3
10gallein599.4GNAT2, GNAZ
11cyclic amp43 2410.2PDE6H, CNGB1, CNGA3, CNGB3
12Guanosine monophosphate249.0GNAZ, GNAT2, CNGA3, PDE6C, PDE6H
13cgmp43 2810.0GNAZ, RPGR, CNGA3, CNGB1

GO Terms for genes affiliated with Achromatopsia

About this section

Cellular components related to Achromatopsia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1photoreceptor outer segment membraneGO:00426229.7CNGA3, GNAT2
2extrinsic component of cytoplasmic side of plasma membraneGO:00312349.7GNAT2, GNAZ
3photoreceptor outer segmentGO:00017509.6CNGB3, RPGR, GNAT2
4heterotrimeric G-protein complexGO:00058349.4GNAT2, GNAZ

Biological processes related to Achromatopsia according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1retinal cone cell developmentGO:00465499.7GNAT2, CNGA3, PDE6C
2phototransductionGO:00076029.7NR2E3, GNAT2
3response to stimulusGO:00508969.4PDE6H, NYX, RPGR
4potassium ion transmembrane transportGO:00718059.4CNGB1, CNGA3, CNGB3
5adenylate cyclase-modulating G-protein coupled receptor signaling pathwayGO:00071889.4GNAZ, GNAT2
6regulation of membrane potentialGO:00423919.3CNGA3, CNGB3, CNGB1
7transportGO:00068109.3CNGB3, CNGA3, CNGB1
8phototransduction, visible lightGO:00076039.2CNGB3, CNGA3, CNGB1, PDE6C
9visual perceptionGO:00076017.4CNGB3, CNGA3, CNGB1, PDE6C, PDE6H, NR2E3

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
13,5-cyclic-GMP phosphodiesterase activityGO:00475559.8PDE6H, PDE6C
2G-protein beta/gamma-subunit complex bindingGO:00316839.7GNAT2, GNAZ
3intracellular cGMP activated cation channel activityGO:00052239.5CNGB1, CNGA3, CNGB3
4intracellular cAMP activated cation channel activityGO:00052229.4CNGB1, CNGB3, CNGA3
5voltage-gated potassium channel activityGO:00052499.3CNGB3, CNGB1, CNGA3
6ligand-gated ion channel activityGO:00152769.3CNGB1, CNGA3
7cGMP bindingGO:00305538.9CNGA3, CNGB1, PDE6C, PDE6H, CNGB3

Products for genes affiliated with Achromatopsia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Achromatopsia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet