| H00591 | |
| H番号 | H00591 |
| 名称 | 顔面肩甲上腕型筋ジストロフィー |
| 概要 | Facioscapulohumeral muscular dystrophy (FSHD) is a usually autosomal dominant inherited form of muscular dystrophy. At disease onset, typically in the second decade of life, FSHD is characterized by initially restricted weakness of shoulder and facial muscles. With progression, the lower extremities, both distal and proximal, become involved. FSHD is caused by a reduction in the copy number of the D4Z4 macrosatellite repeat. However, the reduction of D4Z4 copy number is not sufficient by itself to cause FSHD. A number of epigenetic events appear to affect the severity of the disease, its rate of progression, and the distribution of muscle weakness. |
| カテゴリ | 神経系疾患; 筋骨格疾患 |
| ネットワーク | - |
| 病因遺伝子 | (FSHD1) FRG1 [HSA:2483] [KO:K13122] (FSHD2) SMCHD1 [HSA:23347] [KO:K23113] (FSHD3) LRIF1 [HSA:55791] [KO:K23220] (FSHD4) DNMT3B [HSA:1789] [KO:K17399] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C70.3 ICD-10: G71.0 MeSH: D020391 OMIM: 158900 158901 619477 619478 |
| 文献 | PMID:21288772 著者 van der Maarel SM, Tawil R, Tapscott SJ タイトル Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence. 雑誌 Trends Mol Med 17:252-8 (2011) DOI:10.1016/j.molmed.2011.01.001 PMID:21149563 著者 Cabianca DS, Gabellini D タイトル The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy. 雑誌 J Cell Biol 191:1049-60 (2010) DOI:10.1083/jcb.201007028 PMID:23143600 著者 Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM タイトル Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. 雑誌 Nat Genet 44:1370-4 (2012) DOI:10.1038/ng.2454 PMID:32467133 著者 Hamanaka K, Sikrova D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM タイトル Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. 雑誌 Neurology 94:e2441-e2447 (2020) DOI:10.1212/WNL.0000000000009617 PMID:27153398 著者 van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM タイトル Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. 雑誌 Am J Hum Genet 98:1020-1029 (2016) DOI:10.1016/j.ajhg.2016.03.013 |