| H00408 | |
| H number | H00408 |
| Name | Type 1 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 DIS_PATHWAY hsa04940 Type I diabetes mellitus |
| Network | nt06531(H00408) lipid and insulin related signaling |
| Gene | (T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | 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] Dasiglucagon hydrochloride [DR:D12314] Teplizumab [DR:D09013] Donislecel [DR:D12634] |
| Comment | - |
| Other DBs | ICD-11: 5A10 ICD-10: E10 MeSH: D003922 OMIM: 125852 600320 601942 601388 612520 612522 222100 |
| Reference | PMID:19369670 AUTHORS Concannon P, Rich SS, Nepom GT TITLE Genetics of type 1A diabetes. JOURNAL N Engl J Med 360:1646-54 (2009) DOI:10.1056/NEJMra0808284 PMID:18482868 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) DOI:10.1016/j.molmed.2008.04.002 PMID:18192540 (INS) AUTHORS Molven A, Ringdal M, Nordbo AM, Raeder H, Stoy J, Lipkind GM, Steiner DF, Philipson LH, Bergmann I, Aarskog D, Undlien DE, Joner G, Sovik O, Bell GI, Njolstad PR TITLE Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. JOURNAL Diabetes 57:1131-5 (2008) DOI:10.2337/db07-1467 PMID:15247916 (SUMO4) AUTHORS Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, Zheng W, Purohit S, Podolsky RH, Muir A, Wang J, Dong Z, Brusko T, Atkinson M, Pozzilli P, Zeidler A, Raffel LJ, Jacob CO, Park Y, Serrano-Rios M, Larrad MT, Zhang Z, Garchon HJ, Bach JF, Rotter JI, She JX, Wang CY TITLE A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. JOURNAL Nat Genet 36:837-41 (2004) DOI:10.1038/ng1391 PMID:15776395 (IL2RA) AUTHORS Vella A, Cooper JD, Lowe CE, Walker N, Nutland S, Widmer B, Jones R, Ring SM, McArdle W, Pembrey ME, Strachan DP, Dunger DB, Twells RC, Clayton DG, Todd JA TITLE Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. JOURNAL Am J Hum Genet 76:773-9 (2005) DOI:10.1086/429843 PMID:8817351 (CTLA4) AUTHORS Nistico L, Buzzetti R, Pritchard LE, Van der Auwera B, Giovannini C, Bosi E, Larrad MT, Rios MS, Chow CC, Cockram CS, Jacobs K, Mijovic C, Bain SC, Barnett AH, Vandewalle CL, Schuit F, Gorus FK, Tosi R, Pozzilli P, Todd JA TITLE The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry. JOURNAL Hum Mol Genet 5:1075-80 (1996) DOI:10.1093/hmg/5.7.1075 PMID:9313763 (HNF1A) AUTHORS Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J TITLE Identification of mutations in the hepatocyte nuclear factor (HNF)-1 alpha gene in Japanese subjects with IDDM. JOURNAL Diabetes 46:1643-7 (1997) DOI:10.2337/diacare.46.10.1643 PMID:19073967 (CCR5) AUTHORS Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA TITLE Shared and distinct genetic variants in type 1 diabetes and celiac disease. JOURNAL N Engl J Med 359:2767-77 (2008) DOI:10.1056/NEJMoa0807917 PMID:22106694 (HLA-DRB1 HLA-DQB1 HLA-DQA1) AUTHORS Rohana AG, Loh KC, Tin SK, Soh CH, Nazaimoon WM, Fong KY, Azmi KN, Khalid BA TITLE HLA-DQA1, -DQB1 and -DRB1 gene polymorphism--in Malay type 1 diabetes mellitus patients and their use for risk prediction. JOURNAL Med J Malaysia 66:133-7 (2011) PMID:25729936 (PTPN22) AUTHORS Liu HW, Xu RY, Sun RP, Wang Q, Liu JL, Ge W, Yu Z TITLE Association of PTPN22 gene polymorphism with type 1 diabetes mellitus in Chinese children and adolescents. JOURNAL Genet Mol Res 14:63-8 (2015) DOI:10.4238/2015.January.15.8 PMID:26344020 (PTPN2) AUTHORS Peng H, Li J, Chen X, Zhou X, Zhu W, Li F TITLE Genetic Variants of PTPN2 Gene in Chinese Children with Type 1 Diabetes Mellitus. JOURNAL Med Sci Monit 21:2653-8 (2015) DOI:10.12659/MSM.893607 PMID:29109006 (ERBB3) AUTHORS Lemos NE, Dieter C, Dorfman LE, Assmann TS, Duarte GCK, Canani LH, Bauer AC, Crispim D TITLE The rs2292239 polymorphism in ERBB3 gene is associated with risk for type 1 diabetes mellitus in a Brazilian population. JOURNAL Gene 644:122-128 (2018) DOI:10.1016/j.gene.2017.11.009 PMID:34328597 (IL2 IL21) AUTHORS Khalil RG, Abdel-Moneim A, Yousef AI, Abdel-Rahman H, Zanaty MI, El-Sayed A TITLE Association of interleukin-2, interleukin-21 and interleukin-23 with hyperlipidemia in pediatric type 1 diabetes. JOURNAL Mol Biol Rep 48:5421-5433 (2021) DOI:10.1007/s11033-021-06545-0 PMID:28929635 (IFIH1) AUTHORS Jermendy A, Szatmari I, Korner A, Szabo AJ, Toth-Heyn P, Hermann R TITLE Association between interferon-induced helicase (IFIH1) rs1990760 polymorphism and seasonal variation in the onset of type 1 diabetes mellitus. JOURNAL Pediatr Diabetes 19:300-304 (2018) DOI:10.1111/pedi.12569 PMID:31570815 (CLEC16A) AUTHORS Gingerich MA, Sidarala V, Soleimanpour SA TITLE Clarifying the function of genes at the chromosome 16p13 locus in type 1 diabetes: CLEC16A and DEXI. JOURNAL Genes Immun 21:79-82 (2020) DOI:10.1038/s41435-019-0087-7 PMID:32236312 (BACH2) AUTHORS Dieter C, Lemos NE, Dorfman LE, Duarte GCK, Assmann TS, Crispim D TITLE The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population. JOURNAL Arch Endocrinol Metab 64:138-143 (2020) DOI:10.20945/2359-3997000000214 PMID:24982147 (CTSH) AUTHORS Floyel T, Brorsson C, Nielsen LB, Miani M, Bang-Berthelsen CH, Friedrichsen M, Overgaard AJ, Berchtold LA, Wiberg A, Poulsen P, Hansen L, Rosinger S, Boehm BO, Ram R, Nguyen Q, Mehta M, Morahan G, Concannon P, Bergholdt R, Nielsen JH, Reinheckel T, von Herrath M, Vaag A, Eizirik DL, Mortensen HB, Storling J, Pociot F TITLE CTSH regulates beta-cell function and disease progression in newly diagnosed type 1 diabetes patients. JOURNAL Proc Natl Acad Sci U S A 111:10305-10 (2014) DOI:10.1073/pnas.1402571111 PMID:20546165 (SH2B3) AUTHORS Lavrikova EY, Nikitin AG, Kuraeva TL, Peterkova VA, Tsitlidze NM, Chistiakov DA, Nosikov VV TITLE The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients. JOURNAL Pediatr Diabetes 12:127-32 (2011) DOI:10.1111/j.1399-5448.2010.00656.x PMID:20089178 (PTPN22 C12orf30 CD226) AUTHORS Douroudis K, Kisand K, Nemvalts V, Rajasalu T, Uibo R TITLE Allelic variants in the PHTF1-PTPN22, C12orf30 and CD226 regions as candidate susceptibility factors for the type 1 diabetes in the Estonian population. JOURNAL BMC Med Genet 11:11 (2010) DOI:10.1186/1471-2350-11-11 PMID:30145014 (CD226) AUTHORS Abu El-Ella SS, Khattab ESAEH, El-Mekkawy MS, El-Shamy AA TITLE CD226 gene polymorphism (rs763361 C>T) is associated with susceptibility to type 1 diabetes mellitus among Egyptian children. JOURNAL Arch Pediatr 25:378-382 (2018) DOI:10.1016/j.arcped.2018.06.009 PMID:18340361 (ITPR3) AUTHORS Qu HQ, Marchand L, Szymborski A, Grabs R, Polychronakos C TITLE The association between type 1 diabetes and the ITPR3 gene polymorphism due to linkage disequilibrium with HLA class II. JOURNAL Genes Immun 9:264-6 (2008) DOI:10.1038/gene.2008.12 PMID:15225764 (CYP27B1) AUTHORS Lopez ER, Regulla K, Pani MA, Krause M, Usadel KH, Badenhoop K TITLE CYP27B1 polymorphisms variants are associated with type 1 diabetes mellitus in Germans. JOURNAL J Steroid Biochem Mol Biol 89-90:155-7 (2004) DOI:10.1016/j.jsbmb.2004.03.095 |