ACHM
MCID: ACH003
MIFTS: 61

Achromatopsia (ACHM)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Achromatopsia

MalaCards integrated aliases for Achromatopsia:

Name: Achromatopsia 12 73 25 43 58 36 29 54 6 15 37 39 70
Total Color Blindness 43 58
Rod Monochromatism 43 58
Achm 12 58
Complete or Incomplete Color Blindness 58
Pingelapese Blindness 58
Rod Monochromacy 58
Achromatopsia 2 70
Achromatopsia 3 70
Achromatopsia 1 70
Monochromatism 12
Achromatism 43

Characteristics:

Orphanet epidemiological data:

58
achromatopsia
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:13911
KEGG 36 H00971
ICD9CM 34 368.54
MeSH 44 D003117
NCIt 50 C84528
SNOMED-CT 67 56852002
ICD10 32 H53.51
ICD10 via Orphanet 33 H53.5
UMLS via Orphanet 71 C0152200
Orphanet 58 ORPHA49382
UMLS 70 C0152200 C0302129 C1849792 more

Summaries for Achromatopsia

MedlinePlus Genetics : 43 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.Achromatopsia also involves other problems with vision, including an increased sensitivity to light and glare (photophobia), involuntary back-and-forth eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.Achromatopsia is different from the more common forms of color vision deficiency (also called color blindness), in which people can perceive color but have difficulty distinguishing between certain colors, such as red and green.

MalaCards based summary : Achromatopsia, also known as total color blindness, is related to achromatopsia 2 and achromatopsia 3, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Phototransduction and Metabolism of fat-soluble vitamins. The drugs Nitric Oxide and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cortex, and related phenotypes are photophobia and pendular nystagmus

Disease Ontology : 12 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.

KEGG : 36 Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual aquity, photophobia, nystagmus, difficulty in color discrimination, and no recordable cone function in electroretinography with normal rod functions. The condition is caused by genetic defects affecting crucial components of the cone photoreceptor signaling.

Wikipedia : 73 Achromatopsia, also known as total color blindness, is a medical syndrome that exhibits symptoms... more...

GeneReviews: NBK1418

Related Diseases for Achromatopsia

Diseases in the Achromatopsia family:

Achromatopsia 2 Achromatopsia 3
Achromatopsia 4 Achromatopsia 7

Diseases related to Achromatopsia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 156)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 2 33.2 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
2 achromatopsia 3 33.1 PDE6H PDE6C GUCY2D GNAT2 FRMD7 CNGB3
3 achromatopsia 7 33.1 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
4 achromatopsia 4 33.0 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3
5 blue cone monochromacy 32.9 PDE6H PDE6C OPSIN-LCR OPN1LW NR2E3 GNAT2
6 color vision deficiency 32.2 OPSIN-LCR OPN1SW OPN1LW NR2E3 CNGA3
7 tritanopia 32.0 PDE6H PDE6C OPN1SW OPN1LW GNAT2 CNGB3
8 aland island eye disease 31.9 RPE65 NR2E3 GUCY2D CABP4 ABCA4
9 yemenite deaf-blind hypopigmentation syndrome 31.5 RPE65 RHO GUCY2D ABCA4
10 color blindness 31.5 RPGR RPE65 RHO PDE6H PDE6C PDE6A
11 pathologic nystagmus 31.3 RPGR RPE65 RHO PDE6C OPN1LW GUCY2D
12 congenital nystagmus 30.9 FRMD7 CNGB3 CNGA3
13 retinal disease 30.8 RPGR RPE65 RHO PDE6A OPN1SW OPN1LW
14 retinitis 30.7 RPGR RPE65 RHO PDE6A CNGB1 ABCA4
15 scotoma 30.6 RPGR RPE65 RHO GUCY2D CNGB3 CNGA3
16 retinal degeneration 30.6 RPGR RPE65 RHO NR2E3 GUCY2D GNAT2
17 cone dystrophy 30.5 RPGR RPE65 RHO PDE6H PDE6C PDE6A
18 eye disease 30.5 RPGR RPE65 RHO OPN1SW NR2E3 GUCY2D
19 fundus albipunctatus 30.5 RPGR RPE65 RHO NR2E3 GUCY2D CABP4
20 oligocone trichromacy 30.5 PDE6C GNAT2 CNGB3 CNGA3
21 retinitis pigmentosa 26 30.4 CNGB3 CNGB1 CNGA3
22 jalili syndrome 30.4 PDE6C GNAT2 CNGB3 CNGA3
23 cone-rod dystrophy 8 30.4 GUCY2D GNAT2 CNGB3 CNGA3
24 retinitis pigmentosa 44 30.4 CNGB3 CNGA3
25 stargardt disease 1 30.4 RHO CNGB3 ABCA4
26 cone-rod dystrophy 6 30.3 RPGR RPE65 PDE6H PDE6C PDE6A GUCY2D
27 cone-rod dystrophy, x-linked, 1 30.2 RPGR OPN1LW
28 night blindness 30.2 RPGR RPE65 RHO PDE6H NR2E3 GUCY2D
29 fundus dystrophy 30.1 RPGR RPE65 RHO PDE6H PDE6C PDE6A
30 macular degeneration, age-related, 1 30.1 RPGR RPE65 RHO NR2E3 GUCY2D GNAT2
31 myopia 30.1 RPGR RHO OPN1LW CNGB3
32 retinitis pigmentosa 30.1 RPGR RPE65 RHO PDE6H PDE6C PDE6A
33 cone-rod dystrophy 2 30.0 RPGR RPE65 RHO PDE6H PDE6C PDE6A
34 leber plus disease 29.8 RPGR RPE65 RHO PDE6H PDE6C PDE6A
35 cone dystrophy 4 11.5
36 retinal cone dystrophy 3a 11.3
37 foveal hypoplasia 1 10.9
38 nystagmus 1, congenital, x-linked 10.9
39 foveal hypoplasia 2 10.9
40 ifap syndrome 2 10.6
41 cycloplegia 10.5 PDE6H PDE6C GNAT2
42 leber congenital amaurosis / early-onset severe retinal dystrophy 10.5 RPE65 CABP4
43 toxic maculopathy 10.5 NR2E3 ABCA4
44 patterned macular dystrophy 10.5 RHO NR2E3
45 cone-rod dystrophy, x-linked, 2 10.5 RPGR OPN1LW
46 pseudopapilledema 10.5 RPE65 GUCY2D
47 retinitis pigmentosa 35 10.5 RPGR CNGB1
48 solar retinopathy 10.5 RHO ABCA4
49 cone-rod dystrophy 5 10.5 GUCY2D CABP4
50 cone-rod dystrophy, x-linked, 3 10.5 RPGR CABP4

Graphical network of the top 20 diseases related to Achromatopsia:



Diseases related to Achromatopsia

Symptoms & Phenotypes for Achromatopsia

Human phenotypes related to Achromatopsia:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
2 pendular nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0012043
3 color vision test abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0030584
4 monochromacy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007803
5 undetectable light-adapted electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0030465
6 inner retinal layer loss on macular oct 58 31 hallmark (90%) Very frequent (99-80%) HP:0030620
7 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
8 reduced visual acuity 58 31 frequent (33%) Frequent (79-30%) HP:0007663
9 hypoplasia of the fovea 58 31 frequent (33%) Frequent (79-30%) HP:0007750
10 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
11 central scotoma 58 31 frequent (33%) Frequent (79-30%) HP:0000603
12 absent foveal reflex 58 31 frequent (33%) Frequent (79-30%) HP:0030825
13 retinal pigment epithelial mottling 58 31 occasional (7.5%) Occasional (29-5%) HP:0007814
14 attenuation of retinal blood vessels 58 31 occasional (7.5%) Occasional (29-5%) HP:0007843
15 abnormal pupillary light reflex 58 31 occasional (7.5%) Occasional (29-5%) HP:0007695
16 eccentric visual fixation 58 31 occasional (7.5%) Occasional (29-5%) HP:0025549
17 retinal pigment epithelial atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0007722
18 color vision defect 58 Very frequent (99-80%)
19 abnormality of refraction 58 Very frequent (99-80%)
20 abnormal macular morphology 58 Occasional (29-5%)

UMLS symptoms related to Achromatopsia:


photophobia

MGI Mouse Phenotypes related to Achromatopsia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 ABCA4 CABP4 CNGA3 CNGB3 GNAT2 GUCY2D
2 vision/eye MP:0005391 9.53 ABCA4 CABP4 CNGA3 CNGB3 FRMD7 GNAT2

Drugs & Therapeutics for Achromatopsia

Drugs for Achromatopsia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 3 10102-43-9 145068
2 Analgesics Phase 3
3 Anti-Inflammatory Agents Phase 2
4
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
5
carbamide peroxide Approved Early Phase 1 124-43-6
6
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
7
Xenon Experimental 7440-63-3
8 Anesthetics
9 4-phenylbutyric acid Early Phase 1
10 Protective Agents Early Phase 1
11 Z 350
12 Narcotics
13 Analgesics, Opioid

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Therapeutic Effects of Monochromatic Infrared Energy Therapy on Patients With Chronic Low Back Pain: A Double-Blind, Randomized, Placebo-Controlled Study Unknown status NCT01920971 Phase 4
2 A Randomized, Double Blind, Placebo Controlled Prospective Study to Evaluate the Effectiveness of Monochromatic Infrared Photo Energy to Improve Diabetic Sensory Neuropathy Completed NCT00120341 Phase 4
3 Monochromatic Phototherapy on Diabetic Foot Ulcers. A Twenty Weeks Prospective, Randomised, Double Blind, Multi-centre, Placebo Controlled Study Unknown status NCT00859599 Phase 3
4 A Phase III, Double Blind, Randomized, Placebo-controlled Study to Assess the Efficacy of Adjunct Monochromatic Near-infrared Photoenergy (MIRE) in Patients With Painful Axonal Peripheral Neuropathy Terminated NCT00125268 Phase 3
5 A Phase I/II Study of the NT-501 Intraocular Implant Releasing Ciliary Neurotrophic Factor (CNTF) in Participants With CNGB3 Achromatopsia Completed NCT01648452 Phase 1, Phase 2
6 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 Completed NCT03001310 Phase 1, Phase 2
7 An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Children and Adults With Achromatopsia Owing to Defects in CNGA3 Recruiting NCT03758404 Phase 1, Phase 2
8 Safety and Efficacy of a Bilateral Single Subretinal Injection of rAAV.hCNGA3 in Adult and Minor Patients With CNGA3-linked Achromatopsia Investigated in a Randomized, Wait List Controlled, Observer-masked Trial Recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
9 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing CNGB3 (rAAV2tYF-PR1.7-hCNGB3) in Patients With Congenital Achromatopsia Caused by Mutations in the CNGB3 Gene Recruiting NCT02599922 Phase 1, Phase 2
10 A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of AGTC 402, a Recombinant Adeno-associated Virus Vector Expressing CNGA3, in Patients With Congenital Achromatopsia Caused by Mutations in the CNGA3 Gene Recruiting NCT02935517 Phase 1, Phase 2
11 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3 and AAV2/8-hG1.7p.coCNGA3) for Gene Therapy of Adults and Children With Achromatopsia Owing to Defects in CNGB3 or CNGA3 Recruiting NCT03278873 Phase 1, Phase 2
12 Photobiomodulation for the Management of Temporomandibular Disorder Pain Not yet recruiting NCT04415281 Phase 2
13 Preliminary Assessment of the Added Diagnostic Value of Dual Energy Computed Tomography (DECT) Images Using Data Acquired on a Spectral Detector Computed Tomography (SDCT) Completed NCT02760706
14 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
15 The Effects of a Blue Monochromatic Light Intervention on Evening-type Individuals' Sleep and Circadian Rhythms Completed NCT03758768
16 Monochromatic Digital-Pupillometry With Two Automated Devices in Comparison to Manual Measurements on Digital Photographs Completed NCT02978092
17 Effect of Monochromatic Light on Incidence of Emergence Delirium in Children Completed NCT03285243
18 Effects of Phototherapy Associated With Sprint and Squat Training on Cardiac Autonomic Modulation: Randomized, Placebo-controlled Trial Completed NCT03566186
19 Mechanism Underlying the Effects of Blue Light in Humans Completed NCT00200863
20 A Prospective, Open Label, Non-randomized, Single-Arm, Multicenter Study to Evaluate the Procedural Safety and Efficacy of ELCA® in Treatment of Patients With Single or Multivessel Coronary Artery Disease (CAD) Completed NCT03284229
21 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
22 Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials Recruiting NCT04124185
23 Chromatic and Monochromatic Optical Aberrations After Corneal Refractive Surgery - Preliminary Study Assessing Their Prevalence, Methods of Reductions of Symptoms and Time-dependent Changes in Patients Symptoms Active, not recruiting NCT03893838
24 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
25 Shade Evaluation of Monochromatic Versus Polychromatic Layering Techniques in Restoration of Fractured Incisal Angle: Randomized Controlled Trial Not yet recruiting NCT04355208
26 Low-Level-Lasertherapie (LLLT) Bei Schmerzhaften, Wunden Mamillen Stillender Frauen Not yet recruiting NCT04259619
27 Clinical Trial Policy Study for the Objective Comparison of Cannabis Vs Opioids (CVO) Pain Management and Therapy Types for Circulatory and Chronic Pain Issues Not yet recruiting NCT03734731 Opioids;Cannabis
28 Monochromatic Near-Infrared Light Energy (MIRE) in the Treatment of Tibial Stress Reaction Terminated NCT00253981

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 (NT-501), CNTF-secreting cells for treatment of retinal diseases
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

Genetic tests related to Achromatopsia:

# Genetic test Affiliating Genes
1 Achromatopsia 29 PDE6C PDE6H

Anatomical Context for Achromatopsia

MalaCards organs/tissues related to Achromatopsia:

40
Eye, Retina, Cortex, Temporal Lobe, Thyroid, Skin

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 606)
# Title Authors PMID Year
1
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 54 61 25 6
20079539 2010
2
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 54 61 6 25
18521937 2008
3
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 61 54 6 25
18445228 2008
4
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. 6 25 54 61
17652762 2007
5
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. 54 61 6 25
17265047 2007
6
Clinical and genetic features of Hungarian achromatopsia patients. 25 54 6 61
16319819 2005
7
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 61 54 25 6
15657609 2005
8
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 6 25 54 61
15712225 2005
9
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. 54 6 25 61
15557429 2004
10
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 25 54 6 61
14757870 2004
11
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. 61 54 6 25
12815043 2003
12
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 54 25 6 61
12357335 2002
13
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 54 61 6 25
12205108 2002
14
CNGA3 mutations in hereditary cone photoreceptor disorders. 54 25 6 61
11536077 2001
15
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. 25 54 6 61
10958649 2000
16
Genetic basis of total colourblindness among the Pingelapese islanders. 6 25 54 61
10888875 2000
17
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. 61 6 25
30080950 2018
18
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 61 25 6
28795510 2017
19
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. 61 25 6
28159970 2017
20
Mutation of ATF6 causes autosomal recessive achromatopsia. 25 6 61
26063662 2015
21
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 6 25 61
26029869 2015
22
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 6 25 61
25616768 2015
23
Novel CNGA3 mutations in Chinese patients with achromatopsia. 6 25 61
25637600 2015
24
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. 61 6 25
25205868 2014
25
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. 6 25 61
25168900 2014
26
Retinal structure and function in achromatopsia: implications for gene therapy. 61 25 6
24148654 2014
27
Photoreceptor structure and function in patients with congenital achromatopsia. 6 25 61
21778272 2011
28
Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene. 6 25 61
21107338 2011
29
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. 25 6 61
19592100 2009
30
A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. 61 25 6
15094710 2004
31
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 25 6 61
12077706 2002
32
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 61 6 25
9662398 1998
33
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease. 6 25
28341476 2017
34
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 6 25
23776498 2013
35
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. 6 61 54
16961972 2006
36
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability. 6 61
30682209 2019
37
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. 6 61
26407004 2015
38
Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels. 6 61
26106334 2015
39
Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients. 6 61
24903488 2014
40
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. 61 6
24676353 2014
41
Five novel CNGB3 gene mutations in Polish patients with achromatopsia. 6 61
25558176 2014
42
Diagnostic fundus autofluorescence patterns in achromatopsia. 61 6
23972307 2013
43
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells. 6 61
23805033 2013
44
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. 61 6
20574029 2010
45
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. 6 61
20549516 2010
46
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 25 54 61
20454696 2010
47
A mutation in gene CNGA3 is associated with day blindness in sheep. 25 54 61
19874885 2010
48
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. 25 54 61
19887631 2009
49
CNGA3 mutations in two United Arab Emirates families with achromatopsia. 61 54 25
18636117 2008
50
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. 54 25 61
17065522 2006

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6 (show top 50) (show all 756)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNGA3 NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp) SNV Pathogenic 9479 rs137852608 GRCh37: 2:99012861-99012861
GRCh38: 2:98396398-98396398
2 CNGA3 NM_001298.3(CNGA3):c.872C>G (p.Thr291Arg) SNV Pathogenic 9477 rs104893616 GRCh37: 2:99012505-99012505
GRCh38: 2:98396042-98396042
3 CNGA3 NM_001298.3(CNGA3):c.488C>T (p.Pro163Leu) SNV Pathogenic 9473 rs104893612 GRCh37: 2:99006159-99006159
GRCh38: 2:98389696-98389696
4 CNGA3 NM_001079878.2(CNGA3):c.1256_1258delinsAG (p.Val419fs) Indel Pathogenic 560440 rs1558820471 GRCh37: 2:99012943-99012945
GRCh38: 2:98396480-98396482
5 CNGA3 NM_001298.3(CNGA3):c.1768G>A (p.Glu590Lys) SNV Pathogenic 800759 rs763041373 GRCh37: 2:99013401-99013401
GRCh38: 2:98396938-98396938
6 CNGA3 NM_001298.3(CNGA3):c.560T>C (p.Ile187Thr) SNV Pathogenic 812122 rs1574385431 GRCh37: 2:99006231-99006231
GRCh38: 2:98389768-98389768
7 CNGA3 NM_001298.3(CNGA3):c.1116del (p.Pro372_Val373insTer) Deletion Pathogenic 988795 GRCh37: 2:99012744-99012744
GRCh38: 2:98396281-98396281
8 CNGA3 NM_001298.3(CNGA3):c.830G>A (p.Arg277His) SNV Pathogenic 800983 rs778114016 GRCh37: 2:99012463-99012463
GRCh38: 2:98396000-98396000
9 CNGA3 NM_001298.3(CNGA3):c.101+2dup Duplication Pathogenic 1031964 GRCh37: 2:98986540-98986541
GRCh38: 2:98370077-98370078
10 CNGB3 NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) SNV Pathogenic 5222 rs121918344 GRCh37: 8:87644996-87644996
GRCh38: 8:86632768-86632768
11 CNGB3 CNGB3, 1-BP INS, 492T Insertion Pathogenic 5224 GRCh37:
GRCh38:
12 CNGB3 CNGB3, 8-BP DEL, NT819 Deletion Pathogenic 5226 GRCh37:
GRCh38:
13 PDE6H PDE6H, -29G-C, 5-PRIME UTR SNV Pathogenic 8362 GRCh37:
GRCh38:
14 PDE6C NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) SNV Pathogenic 8763 rs121918537 GRCh37: 10:95372567-95372567
GRCh38: 10:93612810-93612810
15 CNGA3 NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) SNV Pathogenic 9475 rs104893614 GRCh37: 2:99012481-99012481
GRCh38: 2:98396018-98396018
16 CNGA3 NM_001298.3(CNGA3):c.1669G>A (p.Gly557Arg) SNV Pathogenic 9476 rs104893615 GRCh37: 2:99013302-99013302
GRCh38: 2:98396839-98396839
17 CNGA3 NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) SNV Pathogenic 9478 rs104893617 GRCh37: 2:99013274-99013274
GRCh38: 2:98396811-98396811
18 CNGA3 NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) SNV Pathogenic 9480 rs104893619 GRCh37: 2:99013218-99013218
GRCh38: 2:98396755-98396755
19 GNAT2 NM_005272.4(GNAT2):c.235C>T (p.Gln79Ter) SNV Pathogenic 15922 rs121434585 GRCh37: 1:110152730-110152730
GRCh38: 1:109610108-109610108
20 GNAT2 GNAT2, 4-BP INS, 842TCAG Insertion Pathogenic 15923 GRCh37:
GRCh38:
21 GNAT2 GNAT2, NT285, 7-BP DEL/6-BP INS Indel Pathogenic 15924 GRCh37:
GRCh38:
22 ATF6 NM_007348.4(ATF6):c.355dup (p.Glu119Glyfs) Duplication Pathogenic 208171 rs869320751 GRCh37: 1:161761196-161761197
GRCh38: 1:161791406-161791407
23 ATF6 NM_007348.4(ATF6):c.82+5G>T SNV Pathogenic 209096 rs797045170 GRCh37: 1:161736237-161736237
GRCh38: 1:161766447-161766447
24 ATF6 NM_007348.4(ATF6):c.353del (p.Pro118fs) Deletion Pathogenic 209097 rs797045171 GRCh37: 1:161753884-161753884
GRCh38: 1:161784094-161784094
25 ATF6 NM_007348.4(ATF6):c.1187+5G>C SNV Pathogenic 209098 rs761129859 GRCh37: 1:161790956-161790956
GRCh38: 1:161821166-161821166
26 ATF6 NM_007348.3:c.355_356dupG Duplication Pathogenic 217302 GRCh37:
GRCh38:
27 CNGA3 NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter) SNV Pathogenic 337652 rs777509481 GRCh37: 2:98986505-98986505
GRCh38: 2:98370042-98370042
28 CNGB3 NM_019098.4(CNGB3):c.1781+1G>C SNV Pathogenic 427709 rs1375507464 GRCh37: 8:87616320-87616320
GRCh38: 8:86604092-86604092
29 CNGB3 NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) Indel Pathogenic 427664 rs1554609956 GRCh37: 8:87638255-87638255
GRCh38: 8:86626027-86626027
30 CNGB3 NM_019098.4(CNGB3):c.95dup (p.His32fs) Duplication Pathogenic 427645 rs1554619500 GRCh37: 8:87755760-87755761
GRCh38: 8:86743532-86743533
31 CNGB3 NM_019098.4(CNGB3):c.1285dup (p.Ser429fs) Duplication Pathogenic 427659 rs776896038 GRCh37: 8:87645014-87645015
GRCh38: 8:86632786-86632787
32 CNGB3 NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) Indel Pathogenic 427661 rs1554610279 GRCh37: 8:87641196-87641197
GRCh38: 8:86628968-86628969
33 CNGB3 NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del Deletion Pathogenic 427712 GRCh37:
GRCh38:
34 CNGB3 NM_019098.4(CNGB3):c.281_284del (p.Pro94fs) Deletion Pathogenic 427648 rs1554618413 GRCh37: 8:87738813-87738816
GRCh38: 8:86726585-86726588
35 CNGB3 NM_019098.4(CNGB3):c.1635T>A (p.Tyr545Ter) SNV Pathogenic 427694 rs1554608319 GRCh37: 8:87623843-87623843
GRCh38: 8:86611615-86611615
36 CNGB3 NM_019098.4(CNGB3):c.682dup (p.Ala228fs) Duplication Pathogenic 427651 rs1554614038 GRCh37: 8:87679322-87679323
GRCh38: 8:86667094-86667095
37 CNGB3 NM_019098.4(CNGB3):c.494-2A>T SNV Pathogenic 427697 rs1554614157 GRCh37: 8:87680398-87680398
GRCh38: 8:86668170-86668170
38 CNGB3 NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770] Insertion Pathogenic 430673 GRCh37:
GRCh38: 8:86711345-86711346
39 CNGB3 NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466] Indel Pathogenic 427718 GRCh37:
GRCh38: 8:86587460-86650711
40 CNGB3 NM_019098.4(CNGB3):c.756C>G (p.Tyr252Ter) SNV Pathogenic 427685 rs371318766 GRCh37: 8:87679249-87679249
GRCh38: 8:86667021-86667021
41 CNGB3 NM_019098.4(CNGB3):c.852+1G>C SNV Pathogenic 427699 rs1201521544 GRCh37: 8:87679152-87679152
GRCh38: 8:86666924-86666924
42 CNGB3 NM_019098.4(CNGB3):c.2221del (p.Asp741fs) Deletion Pathogenic 427667 rs1554604552 GRCh37: 8:87588241-87588241
GRCh38: 8:86576013-86576013
43 CNGB3 NM_019098.4(CNGB3):c.791_794del (p.Tyr264fs) Deletion Pathogenic 427654 rs1554613998 GRCh37: 8:87679211-87679214
GRCh38: 8:86666983-86666986
44 CNGB3 NM_019098.4(CNGB3):c.3G>A (p.Met1Ile) SNV Pathogenic 427670 rs1554619513 GRCh37: 8:87755853-87755853
GRCh38: 8:86743625-86743625
45 CNGB3 NM_019098.4(CNGB3):c.265C>T (p.Gln89Ter) SNV Pathogenic 427682 rs1554618417 GRCh37: 8:87738832-87738832
GRCh38: 8:86726604-86726604
46 CNGB3 NM_019098.4(CNGB3):c.1243C>T (p.Gln415Ter) SNV Pathogenic 427689 rs1554610668 GRCh37: 8:87645057-87645057
GRCh38: 8:86632829-86632829
47 CNGB3 NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) Indel Pathogenic 363876 rs886063161 GRCh37: 8:87666247-87666257
GRCh38: 8:86654019-86654029
48 CNGB3 NM_019098.4(CNGB3):c.1297_1298GT[1] (p.Phe434fs) Microsatellite Pathogenic 427660 rs1554610655 GRCh37: 8:87645000-87645001
GRCh38: 8:86632772-86632773
49 CNGB3 NM_019098.5(CNGB3):c.1782-3723_2103+739del Deletion Pathogenic 427721 GRCh37: 8:87590178-87595203
GRCh38: 8:86577950-86582975
50 CNGB3 NM_019098.4(CNGB3):c.1579-2A>G SNV Pathogenic 427705 rs772725807 GRCh37: 8:87623901-87623901
GRCh38: 8:86611673-86611673

Expression for Achromatopsia

Search GEO for disease gene expression data for Achromatopsia.

Pathways for Achromatopsia

Pathways related to Achromatopsia according to KEGG:

36
# Name Kegg Source Accession
1 Phototransduction hsa04744

GO Terms for Achromatopsia

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.87 RPGR RHO OPN1SW GUCY2D GNAT2 FRMD7
2 photoreceptor disc membrane GO:0097381 9.63 RHO PDE6A OPN1SW OPN1LW GUCY2D ABCA4
3 photoreceptor inner segment GO:0001917 9.54 RHO OPN1SW GNAT2
4 transmembrane transporter complex GO:1902495 9.43 CNGB3 CNGB1 CNGA3
5 photoreceptor outer segment membrane GO:0042622 9.43 RHO PDE6H PDE6A GUCY2D GNAT2 CNGA1
6 Golgi-associated vesicle membrane GO:0030660 9.4 RHO CNGB1
7 photoreceptor outer segment GO:0001750 9.32 RPGR RHO OPN1SW OPN1LW GUCY2D GNAT2

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.18 RHO PDE6C PDE6A OPN1SW OPN1LW NR2E3
2 response to stimulus GO:0050896 9.86 RPGR RPE65 RHO PDE6H PDE6C PDE6A
3 retina development in camera-type eye GO:0060041 9.8 RPE65 RHO PDE6A NR2E3
4 retinoid metabolic process GO:0001523 9.77 RPE65 RHO OPN1SW OPN1LW ABCA4
5 cation transmembrane transport GO:0098655 9.73 CNGB3 CNGB1 CNGA1
6 cation transport GO:0006812 9.72 CNGB3 CNGB1 CNGA3
7 photoreceptor cell maintenance GO:0045494 9.71 RHO CNGB1 ABCA4
8 detection of light stimulus involved in visual perception GO:0050908 9.7 RPE65 GNAT2 CNGB1
9 phototransduction GO:0007602 9.7 RHO OPN1SW OPN1LW NR2E3 GNAT2 CNGB1
10 cellular response to light stimulus GO:0071482 9.69 RHO OPN1SW OPN1LW
11 protein-chromophore linkage GO:0018298 9.65 RHO OPN1SW OPN1LW
12 regulation of rhodopsin mediated signaling pathway GO:0022400 9.65 RHO PDE6A GUCY2D CNGB1 CNGA1
13 retinal cone cell development GO:0046549 9.63 PDE6C GNAT2 CABP4
14 rhodopsin mediated signaling pathway GO:0016056 9.62 RHO PDE6A CNGB1 CNGA1
15 phototransduction, visible light GO:0007603 9.61 RHO PDE6C ABCA4
16 detection of visible light GO:0009584 9.58 OPN1SW OPN1LW
17 visual perception GO:0007601 9.58 RPGR RPE65 RHO PDE6H PDE6C PDE6A
18 sensory perception of light stimulus GO:0050953 9.57 RHO PDE6C

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.06 PDE6C GUCY2D GNAT2 CNGB3 CNGB1 CNGA3
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.58 PDE6H PDE6C PDE6A
3 G protein-coupled photoreceptor activity GO:0008020 9.56 RHO OPN1SW OPN1LW GNAT2
4 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.54 PDE6H PDE6C PDE6A
5 photoreceptor activity GO:0009881 9.5 RHO OPN1SW OPN1LW
6 intracellular cAMP-activated cation channel activity GO:0005222 9.46 CNGB3 CNGB1 CNGA3 CNGA1
7 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.43 CNGB1 CNGA1
8 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGB1 CNGA3 CNGA1
9 cGMP binding GO:0030553 9.1 PDE6H PDE6C CNGB3 CNGB1 CNGA3 CNGA1

Sources for Achromatopsia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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