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KEGG   DISEASE: Maturity onset diabetes of the young (MODY)
Entry
H00410                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Diabetes mellitus
    5A13  Diabetes mellitus, other specified type
     H00410  Maturity onset diabetes of the young (MODY)
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H00410  Maturity onset diabetes of the young (MODY)
Disease
pathway
hsa04950  Maturity onset diabetes of the young
Pathway
hsa04911  Insulin secretion
Network
nt06325 Hormone/cytokine 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]
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
  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
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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