| H00865 | |
| H番号 | H00865 |
| 名称 | 致死性先天性拘縮症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (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:K23484] (LCCS6) ZBTB42 [HSA:100128927] [KO:K23196] (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] |
| 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: Q68.8 MeSH: C537194 C564369 C566961 OMIM: 253310 607598 611369 614915 615368 616248 616286 616287 616503 617022 617194 |
| 文献 | PMID:18204449 (GLE1) 著者 Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L タイトル Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 雑誌 Nat Genet 40:155-7 (2008) DOI:10.1038/ng.2007.65 PMID:17701904 (ERBB3) 著者 Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS タイトル Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. 雑誌 Am J Hum Genet 81:589-95 (2007) DOI:10.1086/520770 PMID:17701898 (PIP5K1C) 著者 Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS タイトル Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. 雑誌 Am J Hum Genet 81:530-9 (2007) DOI:10.1086/520771 PMID:22610851 (MYBPC1) 著者 Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS タイトル Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. 雑誌 Hum Mutat 33:1435-8 (2012) DOI:10.1002/humu.22122 PMID:23092955 (DNM2) 著者 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 タイトル Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 雑誌 Eur J Hum Genet 21:637-42 (2013) DOI:10.1038/ejhg.2012.226 PMID:25055871 (ZBTB42) 著者 Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS タイトル ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). 雑誌 Hum Mol Genet 23:6584-93 (2014) DOI:10.1093/hmg/ddu384 PMID:24319099 (CNTNAP1 ADCY6) 著者 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 タイトル Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 雑誌 Hum Mol Genet 23:2279-89 (2014) DOI:10.1093/hmg/ddt618 PMID:26004201 (ADGRG6) 著者 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 タイトル Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. 雑誌 Am J Hum Genet 96:955-61 (2015) DOI:10.1016/j.ajhg.2015.04.014 PMID:26908619 (NEK9) 著者 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 タイトル Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. 雑誌 Hum Mol Genet 25:1824-35 (2016) DOI:10.1093/hmg/ddw054 PMID:27616481 (GLDN) 著者 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 タイトル Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. 雑誌 Am J Hum Genet 99:928-933 (2016) DOI:10.1016/j.ajhg.2016.07.021 |