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

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

Maturity onset diabetes of the young

Pathway

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:

ICD-10:

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

LinkDB

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