KEGG   DISEASE: Distal arthrogryposisHelp
Entry
H00811                      Disease                                

Name
Distal arthrogryposis
Description
Distal arthrogryposis (DA) are a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often are 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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00811  Distal arthrogryposis
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00811  Distal arthrogryposis
BRITE hierarchy
Pathway
hsa04260  Cardiac muscle contraction
hsa04530  Tight junction
Gene
(DA1, DA2B) TPM2 [HSA:7169] [KO:K10374]
(DA1B) MYBPC1 [HSA:4604] [KO:K12557]
(DA2B) TNNI2 [HSA:7136] [KO:K12043]
(DA2B) TNNT3 [HSA:7140] [KO:K12046]
(DA2A, DA2B, DA8) MYH3 [HSA:4621] [KO:K10352]
(DA3, DA5) PIEZO2 [HSA:63895] [KO:K22128]
(DA5D) ECEL1 [HSA:9427] [KO:K09610]
(DA7) MYH8 [HSA:4626] [KO:K10352]
(DA9) FBN2 [HSA:2201]
Other DBs
ICD-11: LD26.4Y
ICD-10: Q87.0 Q74.3
MeSH: D001176
OMIM: 108120 614335 193700 601680 114300 108145 615065 158300 121050
Reference
  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
Reference
  Authors
Beals RK
  Title
The distal arthrogryposes: a new classification of peripheral contractures.
  Journal
Clin Orthop Relat Res 203-10 (2005)
Reference
  Authors
Toydemir RM, Bamshad MJ
  Title
Sheldon-Hall syndrome.
  Journal
Orphanet J Rare Dis 4:11 (2009)
DOI:10.1186/1750-1172-4-11
Reference
  Authors
Bamshad M, Van Heest AE, Pleasure D
  Title
Arthrogryposis: a review and update.
  Journal
J Bone Joint Surg Am 91 Suppl 4:40-6 (2009)
DOI:10.2106/JBJS.I.00281
Reference
  Authors
Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A
  Title
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.
  Journal
Proc Natl Acad Sci U S A 110:4667-72 (2013)
DOI:10.1073/pnas.1221400110
Reference
  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
Reference
  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
Reference
PMID:7493032
  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
Reference
  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

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