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 74 24 25 58 36 29 54 6 15 37 39 71
Total Color Blindness 25 58
Rod Monochromatism 25 58
Achm 12 58
Complete or Incomplete Color Blindness 58
Pingelapese Blindness 58
Rod Monochromacy 58
Achromatopsia 2 71
Achromatopsia 3 71
Achromatopsia 1 71
Monochromatism 12
Achromatism 25

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 43 D003117
NCIt 49 C84528
SNOMED-CT 67 56852002
ICD10 32 H53.51
ICD10 via Orphanet 33 H53.5
UMLS via Orphanet 72 C0152200
Orphanet 58 ORPHA49382
UMLS 71 C0152200 C0302129 C1849792 more

Summaries for Achromatopsia

Genetics Home Reference : 25 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 3 and achromatopsia 7, 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 Tranexamic Acid and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and retina, 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 : 74 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 302)
# Related Disease Score Top Affiliating Genes
1 achromatopsia 3 35.1 PDE6H PDE6C GUCY2D GNAT2 CNGB3 CNGA3
2 achromatopsia 7 35.1 PDE6H PDE6C GNAT2 CNGB3 CNGA3 ATF6
3 achromatopsia 2 35.1 PDE6H PDE6C NR2E3 GNAT2 CNGB3 CNGB1
4 achromatopsia 4 35.0 RPE65 RHO PDE6H PDE6C GNAT2 CNGB3
5 blue cone monochromacy 34.2 RHO PDE6H PDE6C OPSIN-LCR OPN1LW GUCY2D
6 color vision deficiency 33.3 OPSIN-LCR OPN1LW NR2E3 CNGA3
7 tritanopia 32.7 RHO PDE6C OPN1SW OPN1LW
8 color blindness 32.6 RPGR RPE65 RHO PDE6H PDE6C PDE6A
9 yemenite deaf-blind hypopigmentation syndrome 31.9 RPGR RPE65 RHO GUCY2D AIPL1 ABCA4
10 pathologic nystagmus 31.7 RPGR RPE65 RHO PDE6H PDE6C OPN1LW
11 cone dystrophy 31.3 RPGR RPE65 RHO PDE6H PDE6C OPN1LW
12 stargardt disease 1 31.2 CNGB3 ABCA4
13 retinitis 31.2 RPGR RPE65 RHO PDE6A ABCA4
14 inherited retinal disorder 31.1 RPGR RPE65 RHO PDE6A NR2E3 GUCY2D
15 scotoma 31.1 RPGR RPE65 RHO GUCY2D CNGB3 CNGA3
16 retinal disease 31.0 RPGR RPE65 RHO PDE6A OPN1SW OPN1LW
17 oligocone trichromacy 31.0 PDE6C GNAT2 CNGB3 CNGA3
18 jalili syndrome 31.0 PDE6C GNAT2 CNGB3 CNGA3
19 retinitis pigmentosa 26 31.0 RPGR CNGB3 CNGB1
20 retinal degeneration 30.9 RPGR RPE65 RHO NR2E3 GUCY2D GNAT2
21 retinitis pigmentosa 44 30.9 CNGB3 CNGA3
22 cone-rod dystrophy 8 30.9 GUCY2D GNAT2 CNGB3 CNGA3 AIPL1
23 stargardt disease 30.8 RPGR RPE65 RHO PDE6A NR2E3 GUCY2D
24 eye disease 30.8 RPGR RPE65 RHO OPN1SW NR2E3 GUCY2D
25 pseudopapilledema 30.7 RPE65 GUCY2D AIPL1
26 cone-rod dystrophy 6 30.7 RPGR RPE65 PDE6H PDE6C PDE6A GUCY2D
27 colorblindness, partial, protan series 30.7 RHO PDE6C OPN1LW GNAT2 CNGB3 CNGA3
28 night blindness 30.7 RPGR RPE65 RHO PDE6H NR2E3 GUCY2D
29 myopia 30.6 RPGR RHO OPN1LW CNGB3
30 optic disk drusen 30.6 RPGR RHO
31 macular degeneration, age-related, 1 30.6 RPGR RPE65 RHO NR2E3 GUCY2D GNAT2
32 cone-rod dystrophy, x-linked, 1 30.6 RPGR OPN1LW
33 fundus dystrophy 30.6 RPGR RPE65 RHO PDE6H PDE6C PDE6A
34 fundus albipunctatus 30.6 RPGR RPE65 RHO NR2E3 GUCY2D ABCA4
35 retinitis pigmentosa 30.3 RPGR RPE65 RHO PDE6H PDE6C PDE6A
36 leber plus disease 30.2 RPGR RPE65 RHO PDE6H PDE6C PDE6A
37 cone-rod dystrophy 2 30.1 RPGR RPE65 RHO PDE6H PDE6A OPN1LW
38 cone dystrophy 4 12.2
39 retinal cone dystrophy 3a 11.9
40 foveal hypoplasia 1 11.2
41 aland island eye disease 11.2
42 nystagmus 1, congenital, x-linked 11.2
43 foveal hypoplasia 2 11.2
44 leber congenital amaurosis / early-onset severe retinal dystrophy 10.7 RPE65 CABP4 AIPL1
45 toxic maculopathy 10.7 NR2E3 ABCA4
46 prolonged electroretinal response suppression 10.7 RHO GNAT2 CNGB3 CNGA3
47 stargardt macular degeneration 10.7 RHO ABCA4
48 cone-rod dystrophy 5 10.7 OPN1LW GUCY2D CABP4
49 occult macular dystrophy 10.7 GUCY2D CNGB3 ABCA4
50 patterned macular dystrophy 10.7 RHO NR2E3

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 25)
# 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 abnormal electroretinogram 31 hallmark (90%) HP:0000512
4 exotropia 31 hallmark (90%) HP:0000577
5 dyschromatopsia 31 hallmark (90%) HP:0007641
6 hypermetropia 58 31 frequent (33%) Frequent (79-30%) HP:0000540
7 hypoplasia of the fovea 58 31 occasional (7.5%) Frequent (79-30%) HP:0007750
8 attenuation of retinal blood vessels 58 31 occasional (7.5%) Occasional (29-5%) HP:0007843
9 central scotoma 58 31 occasional (7.5%) Frequent (79-30%) HP:0000603
10 retinal pigment epithelial atrophy 58 31 occasional (7.5%) Very rare (<4-1%) HP:0007722
11 granular macular appearance 31 occasional (7.5%) HP:0007793
12 blue cone monochromacy 31 very rare (1%) HP:0007939
13 myopia 58 Frequent (79-30%)
14 reduced visual acuity 58 Frequent (79-30%)
15 color vision defect 58 Very frequent (99-80%)
16 abnormal macular morphology 58 Occasional (29-5%)
17 monochromacy 58 Very frequent (99-80%)
18 retinal pigment epithelial mottling 58 Occasional (29-5%)
19 abnormal pupillary light reflex 58 Occasional (29-5%)
20 abnormality of refraction 58 Very frequent (99-80%)
21 absent foveal reflex 58 Frequent (79-30%)
22 color vision test abnormality 58 Very frequent (99-80%)
23 undetectable light-adapted electroretinogram 58 Very frequent (99-80%)
24 inner retinal layer loss on macular oct 58 Very frequent (99-80%)
25 eccentric visual fixation 58 Occasional (29-5%)

UMLS symptoms related to Achromatopsia:


photophobia

MGI Mouse Phenotypes related to Achromatopsia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.8 ABCA4 AIPL1 CABP4 CNGA3 CNGB3 GNAT2
2 vision/eye MP:0005391 9.53 ABCA4 AIPL1 CABP4 CNGA3 CNGB3 GNAT2

Drugs & Therapeutics for Achromatopsia

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 2 1197-18-8 5526
2
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
3
Racepinephrine Approved Phase 2 329-65-7 838
4 Adrenergic alpha-Agonists Phase 2
5 Adrenergic beta-Agonists Phase 2
6 Respiratory System Agents Phase 2
7 Hemostatics Phase 2
8 Adrenergic Agents Phase 2
9 Vasoconstrictor Agents Phase 2
10 Epinephryl borate Phase 2
11 Anti-Asthmatic Agents Phase 2
12 Adrenergic Agonists Phase 2
13 Sympathomimetics Phase 2
14 Mydriatics Phase 2
15 Bronchodilator Agents Phase 2
16 Coagulants Phase 2
17 Antifibrinolytic Agents Phase 2
18 Neurotransmitter Agents Phase 2
19
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
20
carbamide peroxide Approved Early Phase 1 124-43-6
21 4-phenylbutyric acid Early Phase 1
22 Protective Agents Early Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Effect of Topical and Systemic Tranexemic Acid on Bleeding and Quality of Surgical Field During Ear Exploration Surgery. A Double Blind Randomized Clinical Trial Unknown status NCT03112135 Phase 2 Tranexamic Acid;Tranexamic Acid;Adrenalin
2 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
3 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
4 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 With Achromatopsia Owing to Defects in CNGA3 Recruiting NCT03758404 Phase 1, Phase 2
5 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
6 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
7 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
8 Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients With CNGA3-linked Achromatopsia Investigated in an Exploratory, Dose-escalation Trial Active, not recruiting NCT02610582 Phase 1, Phase 2 rAAV.hCNGA3
9 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
10 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
11 Phenotyping and Genotyping Patients With Achromatopsia in Preparation for Gene Therapy Trials Recruiting NCT04124185
12 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA

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, Testes, Retina, Cortex, Brain, Thyroid, Skin

Publications for Achromatopsia

Articles related to Achromatopsia:

(show top 50) (show all 565)
# Title Authors PMID Year
1
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. 6 24 54 61
17265047 2007
2
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. 24 54 6 61
15557429 2004
3
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. 61 6 54 24
12357335 2002
4
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 24 54 6 61
12205108 2002
5
CNGA3 mutations in hereditary cone photoreceptor disorders. 24 6 54 61
11536077 2001
6
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. 24 6 54 61
10958649 2000
7
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. 6 61 24
30080950 2018
8
Mutation of ATF6 causes autosomal recessive achromatopsia. 61 24 6
26063662 2015
9
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. 24 6 61
26029869 2015
10
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. 61 24 6
12077706 2002
11
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 24 61 6
9662398 1998
12
An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews. 6 61
20549516 2010
13
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 54 61 24
20454696 2010
14
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. 54 24 61
20079539 2010
15
A mutation in gene CNGA3 is associated with day blindness in sheep. 54 61 24
19874885 2010
16
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. 61 54 24
19887631 2009
17
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 61 24 54
18521937 2008
18
CNGA3 mutations in two United Arab Emirates families with achromatopsia. 61 24 54
18636117 2008
19
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C). 61 54 24
18445228 2008
20
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. 54 24 61
17652762 2007
21
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. 24 54 61
17065522 2006
22
Clinical and genetic features of Hungarian achromatopsia patients. 54 61 24
16319819 2005
23
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel. 24 61 54
15980212 2005
24
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. 54 24 61
15657609 2005
25
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 24 54 61
15712225 2005
26
Achromatopsia 6 61
20301591 2004
27
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. 24 61 54
14757870 2004
28
Molecular basis of an inherited form of incomplete achromatopsia. 61 24 54
14715947 2004
29
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. 54 24 61
12815043 2003
30
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. 61 54 24
12140185 2002
31
Genetic basis of total colourblindness among the Pingelapese islanders. 61 54 24
10888875 2000
32
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. 6 61
1347967 1992
33
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene. 61 24
29193673 2018
34
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene. 61 24
28812650 2017
35
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. 61 24
28795510 2017
36
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial. 61 24
28159970 2017
37
In vivo imaging of a cone mosaic in a patient with achromatopsia associated with a GNAT2 variant. 24 61
27718025 2017
38
Achromatopsia mutations target sequential steps of ATF6 activation. 61 24
28028229 2017
39
Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia. 61 24
27479814 2016
40
Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan. 24 61
27472364 2016
41
Retinal Development in Infants and Young Children with Achromatopsia. 61 24
25972256 2015
42
Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia. 61 24
26087757 2015
43
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy. 24 61
25616768 2015
44
Novel CNGA3 mutations in Chinese patients with achromatopsia. 61 24
25637600 2015
45
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function. 24 61
25205868 2014
46
Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials. 61 24
25168900 2014
47
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. 24 61
24504161 2014
48
Retinal structure and function in achromatopsia: implications for gene therapy. 61 24
24148654 2014
49
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia. 61 24
22790432 2012
50
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 61 24
22901948 2012

Variations for Achromatopsia

ClinVar genetic disease variations for Achromatopsia:

6 (show top 50) (show all 158) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CNGB3 NM_019098.4(CNGB3):c.1432C>T (p.Arg478Ter)SNV Pathogenic 427692 rs201320564 8:87641195-87641195 8:86628967-86628967
2 PDE6C NM_006204.4(PDE6C):c.78del (p.Lys27fs)deletion Pathogenic 487693 rs1554888353 10:95372559-95372559 10:93612802-93612802
3 PDE6C NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)SNV Pathogenic 487690 rs756324901 10:95372693-95372693 10:93612936-93612936
4 PDE6C NM_006204.4(PDE6C):c.497del (p.Asp166fs)deletion Pathogenic 487694 rs1554888848 10:95380405-95380405 10:93620648-93620648
5 PDE6C NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)SNV Pathogenic 487691 rs757622521 10:95381740-95381740 10:93621983-93621983
6 PDE6C NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter)SNV Pathogenic 487692 rs1028838062 10:95399923-95399923 10:93640166-93640166
7 CNGA3 NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys)SNV Pathogenic 497256 rs141386891 2:99012912-99012912 2:98396449-98396449
8 CNGA3 NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp)SNV Pathogenic 498768 rs138958917 2:99008427-99008427 2:98391964-98391964
9 PDE6C NM_006204.4(PDE6C):c.857del (p.Lys286fs)deletion Pathogenic 487695 rs1554888978 10:95381821-95381821 10:93622064-93622064
10 CNGA3 NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter)SNV Pathogenic 503563 rs1553450764 2:99012953-99012953 2:98396490-98396490
11 CNGA3 NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys)SNV Pathogenic 503564 rs774676415 2:99013410-99013410 2:98396947-98396947
12 ATF6 NM_007348.3(ATF6):c.160dup (p.Glu54Glyfs)duplication Pathogenic 505015 rs1553227755 1:161751700-161751701 1:161781910-161781911
13 CNGA3 NM_001298.3(CNGA3):c.934_936ATC[2] (p.Ile314del)short repeat Pathogenic 635158 2:99012565-99012567 2:98396102-98396104
14 CNGA3 NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys)SNV Pathogenic 635157 rs1558820134 2:99012618-99012618 2:98396155-98396155
15 CNGB3 NM_019098.4(CNGB3):c.1663-1205G>ASNV Pathogenic 635822 8:87617644-87617644 8:86605416-86605416
16 CNGB3 NM_019098.4(CNGB3):c.105_114del (p.Gln36fs)deletion Pathogenic 812290 8:87755742-87755751 8:86743514-86743523
17 CNGA3 NM_001298.3(CNGA3):c.667C>G (p.Arg223Gly)SNV Pathogenic 812278 2:99008427-99008427 2:98391964-98391964
18 CNGA3 NM_001298.3(CNGA3):c.1114C>T (p.Pro372Ser)SNV Pathogenic 812281 2:99012747-99012747 2:98396284-98396284
19 CNGA3 NM_001298.3(CNGA3):c.1294del (p.Asp432fs)deletion Pathogenic 812282 2:99012926-99012926 2:98396463-98396463
20 CNGB3 NM_019098.4(CNGB3):c.1207C>T (p.Arg403Ter)SNV Pathogenic 812287 8:87645093-87645093 8:86632865-86632865
21 CNGB3 NM_019098.4(CNGB3):c.819del (p.Arg274fs)deletion Pathogenic 812288 8:87679186-87679186 8:86666958-86666958
22 CNGA3 NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)SNV Pathogenic 9475 rs104893614 2:99012481-99012481 2:98396018-98396018
23 CNGA3 NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)SNV Pathogenic 9480 rs104893619 2:99013218-99013218 2:98396755-98396755
24 CNGA3 NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)SNV Pathogenic 9482 rs104893621 2:99012939-99012939 2:98396476-98396476
25 CABP4 NM_145200.4(CABP4):c.646C>T (p.Arg216Ter)SNV Pathogenic 190959 rs150115958 11:67225148-67225148 11:67457677-67457677
26 CNGA3 NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)SNV Pathogenic 337652 rs777509481 2:98986505-98986505 2:98370042-98370042
27 CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs)deletion Pathogenic 374027 rs775796581 8:87679179-87679186 8:86666951-86666958
28 CNGB3 NM_019098.4(CNGB3):c.1578+1G>ASNV Pathogenic/Likely pathogenic 189031 rs372006750 8:87638210-87638210 8:86625982-86625982
29 CNGB3 NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter)SNV Pathogenic/Likely pathogenic 188968 rs373862340 8:87656899-87656899 8:86644671-86644671
30 CNGB3 NM_019098.4(CNGB3):c.644-1G>CSNV Pathogenic/Likely pathogenic 188780 rs201794629 8:87679362-87679362 8:86667134-86667134
31 CNGB3 NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter)SNV Pathogenic/Likely pathogenic 188828 rs786204498 8:87755744-87755744 8:86743516-86743516
32 CNGA3 NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)SNV Pathogenic/Likely pathogenic 9481 rs104893620 2:99012462-99012462 2:98395999-98395999
33 CNGA3 NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)SNV Pathogenic/Likely pathogenic 9478 rs104893617 2:99013274-99013274 2:98396811-98396811
34 CNGB3 NM_019098.4(CNGB3):c.1663-2137C>TSNV Pathogenic/Likely pathogenic 635823 8:87618576-87618576 8:86606348-86606348
35 PDE6C NM_006204.4(PDE6C):c.1269+1G>ASNV Pathogenic/Likely pathogenic 487689 rs1554889905 10:95394665-95394665 10:93634908-93634908
36 CNGA3 NM_001298.3(CNGA3):c.-37-1G>CSNV Likely pathogenic 503559 rs1553447991 2:98986401-98986401 2:98369938-98369938
37 PDE6C NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr)SNV Likely pathogenic 487697 rs762152984 10:95381801-95381801 10:93622044-93622044
38 ATF6 NM_007348.4(ATF6):c.417dup (p.Asn140Ter)duplication Likely pathogenic 438084 rs765383904 1:161761259-161761260 1:161791469-161791470
39 PDE6C NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu)SNV Likely pathogenic 438111 rs1554888858 10:95380503-95380503 10:93620746-93620746
40 PDE6C NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter)SNV Likely pathogenic 438112 rs1554888861 10:95380539-95380539 10:93620782-93620782
41 PDE6C NM_006204.4(PDE6C):c.864+1G>ASNV Likely pathogenic 438113 rs1023522305 10:95381830-95381830 10:93622073-93622073
42 PDE6C NM_006204.4(PDE6C):c.1847+3_1847+6delshort repeat Likely pathogenic 438110 rs1554890513 10:95400785-95400788 10:93641028-93641031
43 CNGB3 NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly)SNV Likely pathogenic 812289 8:87679223-87679223 8:86666995-86666995
44 CNGA3 NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg)SNV Likely pathogenic 812283 2:99013275-99013275 2:98396812-98396812
45 CNGA3 NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly)SNV Likely pathogenic 812279 2:99012537-99012537 2:98396074-98396074
46 CNGA3 NM_001298.3(CNGA3):c.130_151dup (p.Ala51fs)duplication Likely pathogenic 599216 rs1558811557 2:98994173-98994174 2:98377710-98377711
47 CNGB3 NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)deldeletion Likely pathogenic 636137
48 PDE6C NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)SNV Likely pathogenic 812374 10:95399939-95399939 10:93640182-93640182
49 CNGB3 NM_019098.4(CNGB3):c.1700G>A (p.Gly567Glu)SNV Likely pathogenic 77449 8:87616402-87616402 8:86604174-86604174
50 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs)deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781

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 9.88 RPGR RHO OPN1SW GUCY2D GNAT2 CABP4
2 photoreceptor inner segment GO:0001917 9.62 RHO OPN1SW GNAT2 AIPL1
3 photoreceptor outer segment membrane GO:0042622 9.55 RHO PDE6H GUCY2D GNAT2 CNGA1
4 transmembrane transporter complex GO:1902495 9.43 CNGB3 CNGB1 CNGA3
5 photoreceptor disc membrane GO:0097381 9.43 RHO PDE6A OPN1SW OPN1LW GUCY2D ABCA4
6 Golgi-associated vesicle membrane GO:0030660 9.37 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 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.21 RHO PDE6C PDE6A OPN1SW OPN1LW NR2E3
2 response to stimulus GO:0050896 9.89 RPGR RPE65 RHO PDE6H PDE6C PDE6A
3 retinoid metabolic process GO:0001523 9.8 RPE65 RHO OPN1SW OPN1LW ABCA4
4 retina development in camera-type eye GO:0060041 9.78 RPE65 RHO PDE6A NR2E3
5 cation transport GO:0006812 9.74 CNGB3 CNGB1 CNGA3
6 cation transmembrane transport GO:0098655 9.73 CNGB3 CNGB1 CNGA1
7 regulation of rhodopsin mediated signaling pathway GO:0022400 9.73 RHO PDE6A GUCY2D CNGB1 CNGA1 AIPL1
8 retina homeostasis GO:0001895 9.72 RPE65 CNGB1 AIPL1
9 photoreceptor cell maintenance GO:0045494 9.71 RHO CNGB1 ABCA4
10 detection of light stimulus involved in visual perception GO:0050908 9.7 RPE65 GNAT2 CNGB1
11 phototransduction GO:0007602 9.7 RHO OPN1SW OPN1LW NR2E3 GNAT2 CNGB1
12 cellular response to light stimulus GO:0071482 9.69 RHO OPN1SW OPN1LW
13 protein-chromophore linkage GO:0018298 9.67 RHO OPN1SW OPN1LW
14 rhodopsin mediated signaling pathway GO:0016056 9.67 RHO PDE6A CNGB1 CNGA1
15 retinal cone cell development GO:0046549 9.63 PDE6C GNAT2 CABP4
16 phototransduction, visible light GO:0007603 9.62 RHO PDE6C AIPL1 ABCA4
17 visual perception GO:0007601 9.6 RPGR RPE65 RHO PDE6H PDE6C PDE6A
18 detection of visible light GO:0009584 9.58 OPN1SW OPN1LW
19 sensory perception of light stimulus GO:0050953 9.58 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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