| H00811 | |
| H number | H00811 |
| Name | Distal arthrogryposis |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | 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 |
| Reference | PMID:17103435 AUTHORS Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M TITLE A new distal arthrogryposis syndrome characterized by plantar flexion contractures. JOURNAL Am J Med Genet A 140:2797-801 (2006) DOI:10.1002/ajmg.a.31528 PMID:15930940 AUTHORS Beals RK TITLE The distal arthrogryposes: a new classification of peripheral contractures. JOURNAL Clin Orthop Relat Res 203-10 (2005) PMID:19309503 AUTHORS Toydemir RM, Bamshad MJ TITLE Sheldon-Hall syndrome. JOURNAL Orphanet J Rare Dis 4:11 (2009) DOI:10.1186/1750-1172-4-11 PMID:12592607 (DA1A DA2B1) AUTHORS Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M TITLE Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. JOURNAL Am J Hum Genet 72:681-90 (2003) DOI:10.1086/368294 PMID:20045868 (DA1B) AUTHORS 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 TITLE Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. JOURNAL Hum Mol Genet 19:1165-73 (2010) DOI:10.1093/hmg/ddp587 PMID:32707087 (DA1C) AUTHORS 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 TITLE Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. JOURNAL Am J Hum Genet 107:293-310 (2020) DOI:10.1016/j.ajhg.2020.06.014 PMID:12865991 (DA2B2) AUTHORS Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M TITLE Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. JOURNAL Am J Hum Genet 73:212-4 (2003) DOI:10.1086/376418 PMID:16642020 (DA2B3) AUTHORS Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ TITLE Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. JOURNAL Nat Genet 38:561-5 (2006) DOI:10.1038/ng1775 PMID:30285720 (DA2B4) AUTHORS Li S, You Y, Gao J, Mao B, Cao Y, Zhao X, Zhang X TITLE Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families. JOURNAL BMC Med Genet 19:179 (2018) DOI:10.1186/s12881-018-0692-8 PMID:24726473 (DA3 DA5) AUTHORS 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 TITLE Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. JOURNAL Am J Hum Genet 94:734-44 (2014) DOI:10.1016/j.ajhg.2014.03.015 PMID:23261301 (DA5D) AUTHORS 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 TITLE Mutations in ECEL1 cause distal arthrogryposis type 5D. JOURNAL Am J Hum Genet 92:150-6 (2013) DOI:10.1016/j.ajhg.2012.11.014 PMID:17041932 (DA7) AUTHORS Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ TITLE Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. JOURNAL Am J Med Genet A 140:2387-93 (2006) DOI:10.1002/ajmg.a.31495 PMID:7493032 (DA9) AUTHORS Putnam EA, Zhang H, Ramirez F, Milewicz DM TITLE Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. JOURNAL Nat Genet 11:456-8 (1995) DOI:10.1038/ng1295-456 PMID:30777867 (DA11) AUTHORS 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 TITLE MET mutation causes muscular dysplasia and arthrogryposis. JOURNAL EMBO Mol Med 11:emmm.201809709 (2019) DOI:10.15252/emmm.201809709 |