KEGG   DISEASE: H00408Help
Entry
H00408                      Disease                                

Name
Type I diabetes mellitus
Description
The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood glucose regulation in the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate genes are INS, CTLA4 and PTPN22. The disease may be a result of variations in several susceptibility genes, with the majority only contributing weak effects.
Category
Metabolic disease; Immune system disease; Endocrine disease
BRITE hierarchy
Pathway
Type I diabetes mellitus
T cell receptor signaling pathway
Cytokine-cytokine receptor interaction
Jak-STAT signaling pathway
Neurotrophin signaling pathway
Gene
HLA-DRB1 (polymorphism) [HSA:3123] [KO:K06752]
HLA-DQB1 (polymorphism) [HSA:3119] [KO:K06752]
HLA-DQA1 (polymorphism) [HSA:3117] [KO:K06752]
INS (polymorphism) [HSA:3630] [KO:K04526]
CTLA-4 (polymorphism) [HSA:1493] [KO:K06538]
PTPN22 (polymorphism) [HSA:26191] [KO:K18024]
IL-2RA (polymorphism) [HSA:3559] [KO:K05068]
PTPN2 (polymorphism) [HSA:5771] [KO:K18026]
ERBB3 (polymorphism) [HSA:2065] [KO:K05084]
IL2 - IL21 (intergenic region polymorphism) [HSA:3558 59067] [KO:K05429 K05434]
IFIH1 (polymorphism) [HSA:64135] [KO:K12647]
CLEC16A (polymorphism) [HSA:23274]
BACH2 (polymorphism) [HSA:60468] [KO:K09042]
PRKCQ (polymorphism) [HSA:5588] [KO:K18052]
CTSH (polymorphism) [HSA:1512] [KO:K01366]
C1QTNF6 (polymorphism) [HSA:114904]
SH2B3 (polymorphism) [HSA:10019] [KO:K12459]
C12orf30 (polymorphism) [HSA:80018] [KO:K17973]
CD226 (polymorphism) [HSA:10666] [KO:K06567]
ITPR3 (polymorphism) [HSA:3710] [KO:K04960]
CYP27B1 (polymorphism) [HSA:1594] [KO:K07438]
Env factor
Congenital rubella infection
Cow's milk proteins
Deficiency of vitamin D
N-Nitroso compounds
Pathogen
Enterovirus (polioviruses, coxsackievirus B serotypes)
Marker
GAD65
IA2-Ab
IAA
ICA
Drug
Insulin [DR:D00085]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:19369670 (gene)
  Authors
Concannon P, Rich SS, Nepom GT
  Title
Genetics of type 1A diabetes.
  Journal
N Engl J Med 360:1646-54 (2009)
Reference
PMID:18482868 (gene)
  Authors
Ounissi-Benkalha H, Polychronakos C
  Title
The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
  Journal
Trends Mol Med 14:268-75 (2008)
Reference
PMID:19232167 (gene)
  Authors
Bergholdt R
  Title
Understanding type 1 diabetes genetics - approaches for identification of susceptibility genes in multi-factorial diseases.
  Journal
Dan Med Bull 56:1-39 (2009)
Reference
PMID:19884899 (gene)
  Authors
Handel AE, Handunnetthi L, Ebers GC, Ramagopalan SV
  Title
Type 1 diabetes mellitus and multiple sclerosis: common etiological features.
  Journal
Nat Rev Endocrinol 5:655-64 (2009)
Reference
  Authors
Todd JA, Walker NM, Cooper JD, Smyth DJ, Downes K, Plagnol V, Bailey R, Nejentsev S, Field SF, Payne F, Lowe CE, Szeszko JS, Hafler JP, Zeitels L, Yang JH, Vella A, Nutland S, Stevens HE, Schuilenburg H, Coleman G, Maisuria M, Meadows W, Smink LJ, Healy B, Burren OS, Lam AA, Ovington NR, Allen J, Adlem E, Leung HT, Wallace C, Howson JM, Guja C, Ionescu-Tirgoviste C, Simmonds MJ, Heward JM, Gough SC, Dunger DB, Wicker LS, Clayton DG
  Title
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
  Journal
Nat Genet 39:857-64 (2007)
Reference
PMID:18978792 (gene)
  Authors
Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA
  Title
Meta-analysis of genome-wide association study data identifies additional type 1  diabetes risk loci.
  Journal
Nat Genet 40:1399-401 (2008)
Reference
PMID:16475896 (marker)
  Authors
Seissler J, Scherbaum WA
  Title
Autoimmune diagnostics in diabetes mellitus.
  Journal
Clin Chem Lab Med 44:133-7 (2006)
Reference
PMID:12116173 (environmental factor)
  Authors
Akerblom HK, Vaarala O, Hyoty H, Ilonen J, Knip M
  Title
Environmental factors in the etiology of type 1 diabetes.
  Journal
Am J Med Genet 115:18-29 (2002)
Reference
PMID:17203405 (environmental factor)
  Authors
Peng H, Hagopian W
  Title
Environmental factors in the development of Type 1 diabetes.
  Journal
Rev Endocr Metab Disord 7:149-62 (2006)

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