| H00811 | |
| H番号 | H00811 |
| 名称 | 遠位関節拘縮症 |
| 概要 | Distal arthrogryposis (DA) is a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often is associated with abnormal facies. To date, 10 different DA syndromes have been characterized and classified. DA2A and DA2B are also referred to as Freeman-Sheldon syndrome and Sheldon-Hall syndrome, respectively. The most of causative genes have implicated proteins of the contractile apparatus of the fast-twitch myofibers. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (DA1A, DA2B4) TPM2 [HSA:7169] [KO:K10374] (DA1B) MYBPC1 [HSA:4604] [KO:K12557] (DA1C) MYL11 [HSA:29895] [KO:K12758] (DA2A, DA2B3) MYH3 [HSA:4621] [KO:K24220] (DA2B1) TNNI2 [HSA:7136] [KO:K12043] (DA2B2) TNNT3 [HSA:7140] [KO:K12046] (DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128] (DA5D) ECEL1 [HSA:9427] [KO:K09610] (DA7) MYH8 [HSA:4626] [KO:K24220] (DA9) FBN2 [HSA:2201] [KO:K23342] (DA11) MET [HSA:4233] [KO:K05099] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.4Y ICD-10: Q87.0 Q74.3 MeSH: D001176 OMIM: 108120 614335 619110 193700 601680 618435 618436 114300 108145 615065 158300 121050 620019 |
| 文献 | PMID:17103435 著者 Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M タイトル A new distal arthrogryposis syndrome characterized by plantar flexion contractures. 雑誌 Am J Med Genet A 140:2797-801 (2006) DOI:10.1002/ajmg.a.31528 PMID:15930940 著者 Beals RK タイトル The distal arthrogryposes: a new classification of peripheral contractures. 雑誌 Clin Orthop Relat Res 203-10 (2005) PMID:19309503 著者 Toydemir RM, Bamshad MJ タイトル Sheldon-Hall syndrome. 雑誌 Orphanet J Rare Dis 4:11 (2009) DOI:10.1186/1750-1172-4-11 PMID:12592607 (DA1A DA2B1) 著者 Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M タイトル Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. 雑誌 Am J Hum Genet 72:681-90 (2003) DOI:10.1086/368294 PMID:20045868 (DA1B) 著者 Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB タイトル Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. 雑誌 Hum Mol Genet 19:1165-73 (2010) DOI:10.1093/hmg/ddp587 PMID:32707087 (DA1C) 著者 Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML, Amacher SL, Bamshad MJ タイトル Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. 雑誌 Am J Hum Genet 107:293-310 (2020) DOI:10.1016/j.ajhg.2020.06.014 PMID:12865991 (DA2B2) 著者 Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M タイトル Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. 雑誌 Am J Hum Genet 73:212-4 (2003) DOI:10.1086/376418 PMID:16642020 (DA2B3) 著者 Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ タイトル Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. 雑誌 Nat Genet 38:561-5 (2006) DOI:10.1038/ng1775 PMID:30285720 (DA2B4) 著者 Li S, You Y, Gao J, Mao B, Cao Y, Zhao X, Zhang X タイトル Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. 雑誌 BMC Med Genet 19:179 (2018) DOI:10.1186/s12881-018-0692-8 PMID:24726473 (DA3 DA5) 著者 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ タイトル Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 雑誌 Am J Hum Genet 94:734-44 (2014) DOI:10.1016/j.ajhg.2014.03.015 PMID:23261301 (DA5D) 著者 McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ タイトル Mutations in ECEL1 cause distal arthrogryposis type 5D. 雑誌 Am J Hum Genet 92:150-6 (2013) DOI:10.1016/j.ajhg.2012.11.014 PMID:17041932 (DA7) 著者 Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ タイトル Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. 雑誌 Am J Med Genet A 140:2387-93 (2006) DOI:10.1002/ajmg.a.31495 PMID:7493032 (DA9) 著者 Putnam EA, Zhang H, Ramirez F, Milewicz DM タイトル Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. 雑誌 Nat Genet 11:456-8 (1995) DOI:10.1038/ng1295-456 PMID:30777867 (DA11) 著者 Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P タイトル MET mutation causes muscular dysplasia and arthrogryposis. 雑誌 EMBO Mol Med 11:emmm.201809709 (2019) DOI:10.15252/emmm.201809709 |