| H00410 | |
| H番号 | H00410 |
| 名称 | 若年発症成人型糖尿病 (MODY) |
| 概要 | Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations in six genes, encoding the glucose sensor enzyme glucokinase and five transcription factors that participate in a regulatory network essential for adult beta cell function, cause most of the MODY cases. |
| カテゴリ | 内分泌代謝疾患 疾患パスウェイ hsa04950 若年発症成人型糖尿病 (MODY) |
| ネットワーク | nt06531(H00410) lipid and insulin related signaling |
| 病因遺伝子 | (MODY1) HNF4A [HSA:3172] [KO:K07292] (MODY2) GCK [HSA:2645] [KO:K12407] (MODY3) HNF1A [HSA:6927] [KO:K08036] (MODY4) PDX1 [HSA:3651] [KO:K07594] (MODY5) HNF1B [HSA:6928] [KO:K08034] (MODY6) NEUROD1 [HSA:4760] [KO:K08033] (MODY7) KLF11 [HSA:8462] [KO:K09209] (MODY8) CEL [HSA:1056] [KO:K12298] (MODY9) PAX4 [HSA:5078] [KO:K08032] (MODY10) INS [HSA:3630] [KO:K04526] (MODY11) BLK [HSA:640] [KO:K08890] (MODY13) KCNJ11 [HSA:3767] [KO:K05004] (MODY14) APPL1 [HSA:26060] [KO:K08733] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A13.0 ICD-10: E13 MeSH: C565101 C564219 C563933 C563451 C535520 C565231 C566466 C565225 C567393 OMIM: 606391 125850 125851 600496 606392 137920 606394 610508 609812 612225 613370 613375 616329 616511 |
| 文献 | PMID:18436708 著者 Vaxillaire M, Froguel P タイトル Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. 雑誌 Endocr Rev 29:254-64 (2008) DOI:10.1210/er.2007-0024 PMID:11979019 著者 Velho G, Robert JJ タイトル Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics. 雑誌 Horm Res 57 Suppl 1:29-33 (2002) DOI:10.1159/000053309 PMID:8945471 (MODY1) 著者 Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI タイトル Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) 雑誌 Nature 384:458-60 (1996) DOI:10.1038/384458a0 PMID:1570017 (MODY2) 著者 Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al. タイトル Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. 雑誌 Nature 356:721-2 (1992) DOI:10.1038/356721a0 PMID:8945470 (MODY3) 著者 Yamagata K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillaire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM, Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Bell GI, et al. タイトル Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) 雑誌 Nature 384:455-8 (1996) DOI:10.1038/384455a0 PMID:9326926 (MODY4) 著者 Stoffers DA, Ferrer J, Clarke WL, Habener JF タイトル Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. 雑誌 Nat Genet 17:138-9 (1997) DOI:10.1038/ng1097-138 PMID:9398836 (MODY5) 著者 Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI タイトル Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. 雑誌 Nat Genet 17:384-5 (1997) DOI:10.1038/ng1297-384 PMID:10545951 (MODY6) 著者 Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS タイトル Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 雑誌 Nat Genet 23:323-8 (1999) DOI:10.1038/15500 PMID:15774581 (MODY7) 著者 Neve B, Fernandez-Zapico ME, Ashkenazi-Katalan V, Dina C, Hamid YH, Joly E, Vaillant E, Benmezroua Y, Durand E, Bakaher N, Delannoy V, Vaxillaire M, Cook T, Dallinga-Thie GM, Jansen H, Charles MA, Clement K, Galan P, Hercberg S, Helbecque N, Charpentier G, Prentki M, Hansen T, Pedersen O, Urrutia R, Melloul D, Froguel P タイトル Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. 雑誌 Proc Natl Acad Sci U S A 102:4807-12 (2005) DOI:10.1073/pnas.0409177102 PMID:16369531 (MODY8) 著者 Raeder H, Johansson S, Holm PI, Haldorsen IS, Mas E, Sbarra V, Nermoen I, Eide SA, Grevle L, Bjorkhaug L, Sagen JV, Aksnes L, Sovik O, Lombardo D, Molven A, Njolstad PR タイトル Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. 雑誌 Nat Genet 38:54-62 (2006) DOI:10.1038/ng1708 PMID:17426099 (MODY9) 著者 Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N タイトル PAX4 mutations in Thais with maturity onset diabetes of the young. 雑誌 J Clin Endocrinol Metab 92:2821-6 (2007) DOI:10.1210/jc.2006-1927 PMID:20226046 (MODY10) 著者 Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T タイトル Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). 雑誌 BMC Med Genet 11:42 (2010) DOI:10.1186/1471-2350-11-42 PMID:19667185 (MODY11) 著者 Borowiec M, Liew CW, Thompson R, Boonyasrisawat W, Hu J, Mlynarski WM, El Khattabi I, Kim SH, Marselli L, Rich SS, Krolewski AS, Bonner-Weir S, Sharma A, Sale M, Mychaleckyj JC, Kulkarni RN, Doria A タイトル Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. 雑誌 Proc Natl Acad Sci U S A 106:14460-5 (2009) DOI:10.1073/pnas.0906474106 PMID:22701567 (MODY13) 著者 Bonnefond A, Philippe J, Durand E, Dechaume A, Huyvaert M, Montagne L, Marre M, Balkau B, Fajardy I, Vambergue A, Vatin V, Delplanque J, Le Guilcher D, De Graeve F, Lecoeur C, Sand O, Vaxillaire M, Froguel P タイトル Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. 雑誌 PLoS One 7:e37423 (2012) DOI:10.1371/journal.pone.0037423 PMID:26073777 (MODY14) 著者 Prudente S, Jungtrakoon P, Marucci A, Ludovico O, Buranasupkajorn P, Mazza T, Hastings T, Milano T, Morini E, Mercuri L, Bailetti D, Mendonca C, Alberico F, Basile G, Romani M, Miccinilli E, Pizzuti A, Carella M, Barbetti F, Pascarella S, Marchetti P, Trischitta V, Di Paola R, Doria A タイトル Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. 雑誌 Am J Hum Genet 97:177-85 (2015) DOI:10.1016/j.ajhg.2015.05.011 |