KEGG   PATHWAY: ko04950
Entry
ko04950                     Pathway                                
Name
Maturity onset diabetes of the young
Description
About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY).
We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcription factors: HNF4alpha (MODY1), HNF1alpha (MODY3), PDX1 (MODY4), HNF1beta (MODY5) and NEUROD1 (MODY6). MODY2, which is so far the only subtype not related to a transcription factor, is caused by mutations in the glucokinase gene. Mutations of MODY transcription factor genes lead to abnormal expression of genes involved in pancreatic islet development and metabolism.
Class
Human Diseases; Endocrine and metabolic disease
Pathway map
ko04950  Maturity onset diabetes of the young
ko04950

Disease
H00410  Maturity onset diabetes of the young (MODY)
Orthology
K04526  INS; insulin
K06054  HES1; hairy and enhancer of split 1
K07292  NR2A1, HNF4A; hepatocyte nuclear factor 4-alpha
K07593  SLC2A2, GLUT2; MFS transporter, SP family, solute carrier family 2 (facilitated glucose transporter), member 2
K07594  IPF1, PDX1; insulin promoter factor 1
K07595  MAFA; transcription factor MAFA
K08024  HHEX, HEX, PRH; homeobox protein HEX
K08025  HLXB9, HB9; homeobox protein HB9
K08026  ONECUT1, HNF6; one cut domain, family member 1 (hepatocyte nuclear factor 6)
K08027  NR5A2, FTF; nuclear receptor subfamily 5 group A member 2
K08028  NEUROG3; neurogenin 3
K08029  NKX2-2; homeobox protein Nkx-2.2
K08030  NKX6-1; homeobox protein Nkx-6.1
K08031  PAX6; paired box protein 6
K08032  PAX4; paired box protein 4
K08033  NEUROD1; neurogenic differentiation factor 1
K08034  TCF2, HNF1B; transcription factor 2, hepatocyte nuclear factor 1-beta
K08035  FOXA2, HNF3B; forkhead box protein A2, hepatocyte nuclear factor 3-beta
K08036  TCF1, HNF1A; transcription factor 1, hepatocyte nuclear factor 1-alpha
K08037  NR2A2, HNF4G; hepatocyte nuclear factor 4-gamma
K08038  FOXA3, HNF3G; forkhead box protein A3, hepatocyte nuclear factor 3-gamma
K08039  IAPP; islet amyloid polypeptide
K08040  BHLHA15, BHLHB8, MIST1, DIMM; class A basic helix-loop-helix protein 15
K12406  PKLR; pyruvate kinase isozymes R/L [EC:2.7.1.40]
K12407  GCK; glucokinase [EC:2.7.1.2]
K19521  RFX6; regulatory factor X 6
Reference
PMID:15298336
  Authors
Servitja JM, Ferrer J.
  Title
Transcriptional networks controlling pancreatic development and beta cell function.
  Journal
Diabetologia 47:597-613 (2004)
DOI:10.1007/s00125-004-1368-9
Reference
PMID:15604203
  Authors
Habener JF, Kemp DM, Thomas MK.
  Title
Minireview: transcriptional regulation in pancreatic development.
  Journal
Endocrinology 146:1025-34 (2005)
DOI:10.1210/en.2004-1576
Reference
PMID:15028942
  Authors
Ashizawa S, Brunicardi FC, Wang XP.
  Title
PDX-1 and the pancreas.
  Journal
Pancreas 28:109-20 (2004)
DOI:10.1097/00006676-200403000-00001
Reference
PMID:14614204
  Authors
Yamagata K.
  Title
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY).
  Journal
Endocr J 50:491-9 (2003)
DOI:10.1507/endocrj.50.491
Related
pathway
ko04910  Insulin signaling pathway
ko04930  Type II diabetes mellitus

DBGET integrated database retrieval system