KEGG   DISEASE: H00410Help
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
Metabolic disease; Endocrine disease
BRITE hierarchy
Pathway
Maturity onset diabetes of the young
Type II diabetes mellitus
Insulin signaling pathway
Gene
(MODY1) HNF4A [HSA:3172] [KO:K07292]
(MODY2) GCK [HSA:2645] [KO:K12407]
(MODY3) TCF1 [HSA:6927] [KO:K08036]
(MODY4) PDX1 [HSA:3651] [KO:K07594]
(MODY5) TCF2 [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]
Drug
Insulin [DR:D00085]
Other DBs
Reference
PMID:18436708 (gene)
  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)
Reference
PMID:11979019 (gene)
  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)
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)
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)
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)
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)
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)

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