H00971 | |
H number | H00971 |
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 |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
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 | PMID:19927164 AUTHORS Simunovic MP TITLE Colour vision deficiency. JOURNAL Eye (Lond) 24:747-55 (2010) DOI:10.1038/eye.2009.251 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 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) 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 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 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 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 |