| H00971 | |
| H番号 | H00971 |
| 名称 | 全色盲; 杆体１色覚 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | A form of achromatopsia previously designated ACHM1 was later found to be the same as ACHM3. |
| リンク | ICD-11: 9D44 9B70 ICD-10: H53.5 MeSH: D003117 OMIM: 216900 262300 613856 613093 610024 616517 |
| 文献 | PMID:19927164 著者 Simunovic MP タイトル Colour vision deficiency. 雑誌 Eye (Lond) 24:747-55 (2010) DOI:10.1038/eye.2009.251 PMID:9662398 (ACHM2) 著者 Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B タイトル Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. 雑誌 Nat Genet 19:257-9 (1998) DOI:10.1038/935 PMID:20454696 (ACHM2_3) 著者 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 タイトル Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. 雑誌 Mol Vis 16:774-81 (2010) PMID:12205108 (ACHM4) 著者 Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER タイトル Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). 雑誌 J Med Genet 39:656-60 (2002) DOI:10.1136/jmg.39.9.656 PMID:19887631 (ACHM5) 著者 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 タイトル A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. 雑誌 Proc Natl Acad Sci U S A 106:19581-6 (2009) DOI:10.1073/pnas.0907720106 PMID:22901948 (ACHM6) 著者 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 タイトル A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. 雑誌 Am J Hum Genet 91:527-32 (2012) DOI:10.1016/j.ajhg.2012.07.006 PMID:26063662 (ACHM7) 著者 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 タイトル Mutation of ATF6 causes autosomal recessive achromatopsia. 雑誌 Hum Genet 134:941-50 (2015) DOI:10.1007/s00439-015-1571-4 |