KEGG   DISEASE: Maturity onset diabetes of the young (MODY)Help
H00410                      Disease                                

Maturity onset diabetes of the young (MODY)
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.
Metabolic disease; Endocrine disease
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
   H00410  Maturity onset diabetes of the young (MODY)
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)
BRITE hierarchy
hsa04950  Maturity onset diabetes of the young
hsa04930  Type II diabetes mellitus
hsa04910  Insulin signaling pathway
(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]
(MODY13) KCNJ11 [HSA:3767] [KO:K05004]
(MODY14) APPL1 [HSA:26060] [KO:K08733]
Insulin lispro [DR:D04477]
Insulin aspart [DR:D04475]
Insulin glargine [DR:D03250]
Insulin detemir [DR:D04539]
Other DBs
ICD-11: 5A13.0
ICD-10: E13
MeSH: C565101 C564219 C563933 C563451 C535520 C565231 C566466 C565225 C567393
OMIM: 606391 125850 138079 600496 606392 137920 606394 610508 609812 612225 613370 613375 616329 616511
Vaxillaire M, Froguel P
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.
Endocr Rev 29:254-64 (2008)
Velho G, Robert JJ
Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics.
Horm Res 57 Suppl 1:29-33 (2002)
PMID:15774581 (MODY7)
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
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function.
Proc Natl Acad Sci U S A 102:4807-12 (2005)
PMID:16369531 (MODY8)
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
Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Nat Genet 38:54-62 (2006)
PMID:17426099 (MODY9)
Plengvidhya N, Kooptiwut S, Songtawee N, Doi A, Furuta H, Nishi M, Nanjo K, Tantibhedhyangkul W, Boonyasrisawat W, Yenchitsomanus PT, Doria A, Banchuin N
PAX4 mutations in Thais with maturity onset diabetes of the young.
J Clin Endocrinol Metab 92:2821-6 (2007)
PMID:20226046 (MODY10)
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
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).
BMC Med Genet 11:42 (2010)
PMID:19667185 (MODY11)
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
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
Proc Natl Acad Sci U S A 106:14460-5 (2009)
PMID:22701567 (MODY13)
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
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
PLoS One 7:e37423 (2012)
PMID:26073777 (MODY14)
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
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus.
Am J Hum Genet 97:177-85 (2015)

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