KEGG DISEASE: Type 1 diabetes mellitus

DISEASE: Type 1 diabetes mellitus

Entry

H00408                      Disease

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

Brite

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
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00408  Type 1 diabetes mellitus

Disease
pathway

hsa04940

Type I diabetes mellitus

Pathway

hsa04659

Th17 cell differentiation

hsa04658

Th1 and Th2 cell differentiation

hsa04672

Intestinal immune network for IgA production

hsa04060

Cytokine-cytokine receptor interaction

hsa04630

JAK-STAT signaling pathway

hsa04151

PI3K-Akt signaling pathway

Network

nt06325 Hormone/cytokine 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]

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]
Teplizumab [DR:D09013]
Dasiglucagon [DR:D11359]
Dasiglucagon hydrochloride [DR:D12314]
Donislecel [DR:D12634]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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)

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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