KEGG   DISEASE: Type 1 diabetes mellitus
H00408                      Disease                                

Type 1 diabetes mellitus
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.
Metabolic disease; Immune system disease; Endocrine disease
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
   H00408  Type 1 diabetes mellitus
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Endocrine diseases
   Diabetes mellitus
    5A10  Type 1 diabetes mellitus
     H00408  Type 1 diabetes mellitus
hsa04940  Type I diabetes mellitus
hsa04060  Cytokine-cytokine receptor interaction
hsa04630  JAK-STAT signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04612  Antigen processing and presentation
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] [KO:K19513]
BACH2 (polymorphism) [HSA:60468] [KO:K09042]
PRKCQ (polymorphism) [HSA:5588] [KO:K18052]
CTSH (polymorphism) [HSA:1512] [KO:K01366]
C1QTNF6 (polymorphism) [HSA:114904] [KO:K19470]
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
Cow's milk proteins
Deficiency of vitamin D
N-Nitroso compounds
Insulin human [DR:D03230]
Insulin lispro [DR:D04477]
Insulin aspart [DR:D04475]
Insulin glulisine [DR:D04540]
Insulin glargine [DR:D03250]
Insulin detemir [DR:D04539]
Insulin degludec [DR:D09727]
Pramlintide acetate [DR:D05595]
Dasiglucagon [DR:D11359]
Other DBs
ICD-11: 5A10
ICD-10: E10
MeSH: D003922
OMIM: 601942 601388 125852 612520
Concannon P, Rich SS, Nepom GT
Genetics of type 1A diabetes.
N Engl J Med 360:1646-54 (2009)
Ounissi-Benkalha H, Polychronakos C
The molecular genetics of type 1 diabetes: new genes and emerging mechanisms.
Trends Mol Med 14:268-75 (2008)
Bergholdt R
Understanding type 1 diabetes genetics - approaches for identification of susceptibility genes in multi-factorial diseases.
Dan Med Bull 56:1-39 (2009)
Handel AE, Handunnetthi L, Ebers GC, Ramagopalan SV
Type 1 diabetes mellitus and multiple sclerosis: common etiological features.
Nat Rev Endocrinol 5:655-64 (2009)
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
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Nat Genet 39:857-64 (2007)
Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Nat Genet 40:1399-401 (2008)
Akerblom HK, Vaarala O, Hyoty H, Ilonen J, Knip M
Environmental factors in the etiology of type 1 diabetes.
Am J Med Genet 115:18-29 (2002)
Peng H, Hagopian W
Environmental factors in the development of Type 1 diabetes.
Rev Endocr Metab Disord 7:149-62 (2006)

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