H00410 | |
H number | H00410 |
Name | Maturity onset diabetes of the young (MODY) |
Description | 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. |
Category | Endocrine and metabolic disease DIS_PATHWAY hsa04950 Maturity onset diabetes of the young |
Network | nt06531(H00410) lipid and insulin related signaling |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | 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 |
Reference | PMID:18436708 AUTHORS Vaxillaire M, Froguel P TITLE Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. JOURNAL Endocr Rev 29:254-64 (2008) DOI:10.1210/er.2007-0024 PMID:11979019 AUTHORS Velho G, Robert JJ TITLE Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics. JOURNAL Horm Res 57 Suppl 1:29-33 (2002) DOI:10.1159/000053309 PMID:8945471 (MODY1) AUTHORS Yamagata K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI TITLE Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1) JOURNAL Nature 384:458-60 (1996) DOI:10.1038/384458a0 PMID:1570017 (MODY2) AUTHORS Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, Lesage S, Velho G, Iris F, Passa P, et al. TITLE Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. JOURNAL Nature 356:721-2 (1992) DOI:10.1038/356721a0 PMID:8945470 (MODY3) AUTHORS 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. TITLE Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3) JOURNAL Nature 384:455-8 (1996) DOI:10.1038/384455a0 PMID:9326926 (MODY4) AUTHORS Stoffers DA, Ferrer J, Clarke WL, Habener JF TITLE Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. JOURNAL Nat Genet 17:138-9 (1997) DOI:10.1038/ng1097-138 PMID:9398836 (MODY5) AUTHORS 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 TITLE Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. JOURNAL Nat Genet 17:384-5 (1997) DOI:10.1038/ng1297-384 PMID:10545951 (MODY6) AUTHORS Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS TITLE Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. JOURNAL Nat Genet 23:323-8 (1999) DOI:10.1038/15500 PMID:15774581 (MODY7) AUTHORS 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 TITLE Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. JOURNAL Proc Natl Acad Sci U S A 102:4807-12 (2005) DOI:10.1073/pnas.0409177102 PMID:16369531 (MODY8) AUTHORS 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 TITLE Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. JOURNAL Nat Genet 38:54-62 (2006) DOI:10.1038/ng1708 PMID:17426099 (MODY9) AUTHORS Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N TITLE PAX4 mutations in Thais with maturity onset diabetes of the young. JOURNAL J Clin Endocrinol Metab 92:2821-6 (2007) DOI:10.1210/jc.2006-1927 PMID:20226046 (MODY10) AUTHORS 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 TITLE Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). JOURNAL BMC Med Genet 11:42 (2010) DOI:10.1186/1471-2350-11-42 PMID:19667185 (MODY11) AUTHORS 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 TITLE Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. JOURNAL Proc Natl Acad Sci U S A 106:14460-5 (2009) DOI:10.1073/pnas.0906474106 PMID:22701567 (MODY13) AUTHORS 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 TITLE Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. JOURNAL PLoS One 7:e37423 (2012) DOI:10.1371/journal.pone.0037423 PMID:26073777 (MODY14) AUTHORS 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 TITLE Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus. JOURNAL Am J Hum Genet 97:177-85 (2015) DOI:10.1016/j.ajhg.2015.05.011 |