エントリ 名称 遠位関節拘縮症
下位グループ フリーマン・シェルドン症候群
シェルドン・ホール症候群
開口不全・偽屈曲指症候群 [DS:
H00872 ]
先天性拘縮性クモ指症 [DS:
H00660 ]
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
階層分類 ICD-11 による疾患分類 [BR:jp08403 ]jp08402 ] BRITE hierarchy パスウェイ ネットワーク nt06539 Cytoskeleton in muscle cells
病因遺伝子 リンク 文献 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 文献 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)
文献 著者 Toydemir RM, Bamshad MJ
タイトル Sheldon-Hall syndrome.
雑誌 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 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 文献 著者 Boschann F, Cogulu MO, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hagerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J
タイトル Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.
雑誌 LinkDB All DBs
