KEGG   DISEASE: Lethal congenital contractural syndrome (LCCS)Help
Entry
H00865                      Disease                                

Name
Lethal congenital contractural syndrome (LCCS)
Description
Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited in an autosomal recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Several mutations associated with LCCS have been reported.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the musculoskeletal system
   H00865  Lethal congenital contractural syndrome (LCCS)
BRITE hierarchy
Gene
(LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K01528]
(LCCS6) ZBTB42 [HSA:100128927]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]
Other DBs
ICD-10: Q68.8
MeSH: C537194 C564369 C566961
OMIM: 253310 607598 611369 614915 615368 616248 616286 616287 616503 617022 617194
Reference
PMID:18204449 (gene)
  Authors
Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
  Title
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
  Journal
Nat Genet 40:155-7 (2008)
DOI:10.1038/ng.2007.65
Reference
PMID:17701904 (gene)
  Authors
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
  Title
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
  Journal
Am J Hum Genet 81:589-95 (2007)
DOI:10.1086/520770
Reference
PMID:17701898 (description, gene)
  Authors
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
  Title
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
  Journal
Am J Hum Genet 81:530-9 (2007)
DOI:10.1086/520771
Reference
PMID:22610851 (gene)
  Authors
Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS
  Title
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.
  Journal
Hum Mutat 33:1435-8 (2012)
DOI:10.1002/humu.22122
Reference
PMID:23092955 (gene)
  Authors
Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J
  Title
Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.
  Journal
Eur J Hum Genet 21:637-42 (2013)
DOI:10.1038/ejhg.2012.226
Reference
PMID:25055871 (gene)
  Authors
Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS
  Title
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
  Journal
Hum Mol Genet 23:6584-93 (2014)
DOI:10.1093/hmg/ddu384
Reference
PMID:24319099 (gene)
  Authors
Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J
  Title
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
  Journal
Hum Mol Genet 23:2279-89 (2014)
DOI:10.1093/hmg/ddt618
Reference
PMID:26004201 (gene)
  Authors
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG
  Title
Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.
  Journal
Am J Hum Genet 96:955-61 (2015)
DOI:10.1016/j.ajhg.2015.04.014
Reference
PMID:26908619 (gene)
  Authors
Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA
  Title
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.
  Journal
Hum Mol Genet 25:1824-35 (2016)
DOI:10.1093/hmg/ddw054
Reference
PMID:27616481 (gene)
  Authors
Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J
  Title
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
  Journal
Am J Hum Genet 99:928-933 (2016)
DOI:10.1016/j.ajhg.2016.07.021

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