KEGG   DISEASE: Achromatopsia
Entry
H00971                      Disease                                
Name
Achromatopsia;
Rod monochromacy
Description
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 acuity, 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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00971  Achromatopsia
  Impairment of visual functions
   9D44  Impairment of colour vision
    H00971  Achromatopsia
Pathway
hsa00230  Purine metabolism
hsa04024  cAMP signaling pathway
hsa04744  Phototransduction
Gene
(ACHM2) CNGA3 [HSA:1261] [KO:K04950]
(ACHM3) CNGB3 [HSA:54714] [KO:K04953]
(ACHM4) GNAT2 [HSA:2780] [KO:K04631]
(ACHM5) PDE6C [HSA:5146] [KO:K13757]
(ACHM6) PDE6H [HSA:5149] [KO:K13760]
(ACHM7) ATF6 [HSA:22926] [KO:K09054]
Comment
A form of achromatopsia previously designated ACHM1 was later found to be the same as ACHM3.
Other DBs
ICD-11: 9D44 9B70
ICD-10: H53.5
MeSH: D003117
OMIM: 216900 262300 613856 613093 610024 616517
Reference
  Authors
Simunovic MP
  Title
Colour vision deficiency.
  Journal
Eye (Lond) 24:747-55 (2010)
DOI:10.1038/eye.2009.251
Reference
PMID:9662398 (ACHM2)
  Authors
Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B
  Title
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
  Journal
Nat Genet 19:257-9 (1998)
DOI:10.1038/935
Reference
PMID:20454696 (ACHM2_3)
  Authors
Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R
  Title
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.
  Journal
Mol Vis 16:774-81 (2010)
Reference
PMID:12205108 (ACHM4)
  Authors
Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER
  Title
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
  Journal
J Med Genet 39:656-60 (2002)
DOI:10.1136/jmg.39.9.656
Reference
PMID:19887631 (ACHM5)
  Authors
Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S, Artemyev N, Kohl S, Heckenlively J, Wissinger B
  Title
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
  Journal
Proc Natl Acad Sci U S A 106:19581-6 (2009)
DOI:10.1073/pnas.0907720106
Reference
PMID:22901948 (ACHM6)
  Authors
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B
  Title
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
  Journal
Am J Hum Genet 91:527-32 (2012)
DOI:10.1016/j.ajhg.2012.07.006
Reference
PMID:26063662 (ACHM7)
  Authors
Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM
  Title
Mutation of ATF6 causes autosomal recessive achromatopsia.
  Journal
Hum Genet 134:941-50 (2015)
DOI:10.1007/s00439-015-1571-4

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