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Type 1 diabetes mellitus 15(T1D15)

MedGen UID:
401019
Concept ID:
C1866519
Disease or Syndrome
Synonyms: Diabetes mellitus, insulin-dependent, 15; T1D15
 
Monarch Initiative: MONDO:0011123
OMIM®: 601666

Definition

An inherited susceptibility or predisposition to developing type 1 diabetes mellitus that has material basis in mutation of the locus at chromosome 6q21. [from MONDO]

Clinical features

From HPO
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Diabetes mellitus type 1
MedGen UID:
41522
Concept ID:
C0011854
Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype. The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.

Professional guidelines

PubMed

Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Lancet Diabetes Endocrinol 2023 Jan;11(1):42-57. Epub 2022 Dec 6 doi: 10.1016/S2213-8587(22)00319-9. PMID: 36493795
Lipsky BA, Senneville É, Abbas ZG, Aragón-Sánchez J, Diggle M, Embil JM, Kono S, Lavery LA, Malone M, van Asten SA, Urbančič-Rovan V, Peters EJG; International Working Group on the Diabetic Foot (IWGDF)
Diabetes Metab Res Rev 2020 Mar;36 Suppl 1:e3280. doi: 10.1002/dmrr.3280. PMID: 32176444
Reynolds AN, Akerman AP, Mann J
PLoS Med 2020 Mar;17(3):e1003053. Epub 2020 Mar 6 doi: 10.1371/journal.pmed.1003053. PMID: 32142510Free PMC Article

Recent clinical studies

Etiology

Pan X, Kaminga AC, Kinra S, Wen SW, Liu H, Tan X, Liu A
Front Immunol 2021;12:690082. Epub 2022 Feb 15 doi: 10.3389/fimmu.2021.690082. PMID: 35242125Free PMC Article
Cai X, Li J, Cai W, Chen C, Ma J, Xie Z, Dong Y, Liu C, Xue R, Zhao J
J Diabetes Complications 2021 Apr;35(4):107833. Epub 2021 Jan 2 doi: 10.1016/j.jdiacomp.2020.107833. PMID: 33514477
Ilonen J, Lempainen J, Veijola R
Nat Rev Endocrinol 2019 Nov;15(11):635-650. Epub 2019 Sep 18 doi: 10.1038/s41574-019-0254-y. PMID: 31534209
Iturralde E, Rausch JR, Weissberg-Benchell J, Hood KK
Pediatrics 2019 Jun;143(6) Epub 2019 May 1 doi: 10.1542/peds.2018-3011. PMID: 31043453Free PMC Article
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free PMC Article

Diagnosis

Lek N, Manivong A, Rassavong K, Phommachack D, Toomey C, Ng SM
Pediatr Diabetes 2022 Sep;23(6):620-626. Epub 2022 Jun 6 doi: 10.1111/pedi.13366. PMID: 35598163Free PMC Article
Zhang D, Huang J, Hu J
Anal Biochem 2022 Jul 15;649:114722. Epub 2022 May 7 doi: 10.1016/j.ab.2022.114722. PMID: 35537484
Patterson CC, Karuranga S, Salpea P, Saeedi P, Dahlquist G, Soltesz G, Ogle GD
Diabetes Res Clin Pract 2019 Nov;157:107842. Epub 2019 Sep 10 doi: 10.1016/j.diabres.2019.107842. PMID: 31518658
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free PMC Article
Majidi S, Driscoll KA, Raymond JK
Curr Diab Rep 2015 Aug;15(8):47. doi: 10.1007/s11892-015-0619-0. PMID: 26071685

Therapy

Battelino T, Alexander CM, Amiel SA, Arreaza-Rubin G, Beck RW, Bergenstal RM, Buckingham BA, Carroll J, Ceriello A, Chow E, Choudhary P, Close K, Danne T, Dutta S, Gabbay R, Garg S, Heverly J, Hirsch IB, Kader T, Kenney J, Kovatchev B, Laffel L, Maahs D, Mathieu C, Mauricio D, Nimri R, Nishimura R, Scharf M, Del Prato S, Renard E, Rosenstock J, Saboo B, Ueki K, Umpierrez GE, Weinzimer SA, Phillip M
Lancet Diabetes Endocrinol 2023 Jan;11(1):42-57. Epub 2022 Dec 6 doi: 10.1016/S2213-8587(22)00319-9. PMID: 36493795
Pratley RE, Kanapka LG, Rickels MR, Ahmann A, Aleppo G, Beck R, Bhargava A, Bode BW, Carlson A, Chaytor NS, Fox DS, Goland R, Hirsch IB, Kruger D, Kudva YC, Levy C, McGill JB, Peters A, Philipson L, Philis-Tsimikas A, Pop-Busui R, Shah VN, Thompson M, Vendrame F, Verdejo A, Weinstock RS, Young L, Miller KM; Wireless Innovation for Seniors With Diabetes Mellitus (WISDM) Study Group
JAMA 2020 Jun 16;323(23):2397-2406. doi: 10.1001/jama.2020.6928. PMID: 32543682Free PMC Article
Ilonen J, Lempainen J, Veijola R
Nat Rev Endocrinol 2019 Nov;15(11):635-650. Epub 2019 Sep 18 doi: 10.1038/s41574-019-0254-y. PMID: 31534209
Iturralde E, Rausch JR, Weissberg-Benchell J, Hood KK
Pediatrics 2019 Jun;143(6) Epub 2019 May 1 doi: 10.1542/peds.2018-3011. PMID: 31043453Free PMC Article
Ziegler R, Neu A
Dtsch Arztebl Int 2018 Mar 2;115(9):146-156. doi: 10.3238/arztebl.2018.0146. PMID: 29563012Free PMC Article

Prognosis

Gregory GA, Robinson TIG, Linklater SE, Wang F, Colagiuri S, de Beaufort C, Donaghue KC; International Diabetes Federation Diabetes Atlas Type 1 Diabetes in Adults Special Interest Group, Magliano DJ, Maniam J, Orchard TJ, Rai P, Ogle GD
Lancet Diabetes Endocrinol 2022 Oct;10(10):741-760. Epub 2022 Sep 13 doi: 10.1016/S2213-8587(22)00218-2. PMID: 36113507
Ogle GD, James S, Dabelea D, Pihoker C, Svennson J, Maniam J, Klatman EL, Patterson CC
Diabetes Res Clin Pract 2022 Jan;183:109083. Epub 2021 Dec 6 doi: 10.1016/j.diabres.2021.109083. PMID: 34883188
Patterson CC, Karuranga S, Salpea P, Saeedi P, Dahlquist G, Soltesz G, Ogle GD
Diabetes Res Clin Pract 2019 Nov;157:107842. Epub 2019 Sep 10 doi: 10.1016/j.diabres.2019.107842. PMID: 31518658
Weng J, Zhou Z, Guo L, Zhu D, Ji L, Luo X, Mu Y, Jia W; T1D China Study Group
BMJ 2018 Jan 3;360:j5295. doi: 10.1136/bmj.j5295. PMID: 29298776Free PMC Article
Rawshani A, Rawshani A, Franzén S, Eliasson B, Svensson AM, Miftaraj M, McGuire DK, Sattar N, Rosengren A, Gudbjörnsdottir S
N Engl J Med 2017 Apr 13;376(15):1407-1418. doi: 10.1056/NEJMoa1608664. PMID: 28402770

Clinical prediction guides

Chen X, Affinati AH, Lee Y, Turcu AF, Henry NL, Schiopu E, Qin A, Othus M, Clauw D, Ramnath N, Zhao L
Diabetes Care 2022 May 1;45(5):1170-1176. doi: 10.2337/dc21-2213. PMID: 35238899Free PMC Article
Pan X, Kaminga AC, Kinra S, Wen SW, Liu H, Tan X, Liu A
Front Immunol 2021;12:690082. Epub 2022 Feb 15 doi: 10.3389/fimmu.2021.690082. PMID: 35242125Free PMC Article
Cai X, Li J, Cai W, Chen C, Ma J, Xie Z, Dong Y, Liu C, Xue R, Zhao J
J Diabetes Complications 2021 Apr;35(4):107833. Epub 2021 Jan 2 doi: 10.1016/j.jdiacomp.2020.107833. PMID: 33514477
Iturralde E, Rausch JR, Weissberg-Benchell J, Hood KK
Pediatrics 2019 Jun;143(6) Epub 2019 May 1 doi: 10.1542/peds.2018-3011. PMID: 31043453Free PMC Article
Beauchamp G, Haller MJ
Curr Diab Rep 2015 Nov;15(11):86. doi: 10.1007/s11892-015-0658-6. PMID: 26370697

Recent systematic reviews

Hamud AA, Mudawi K, Shamekh A, Kadri A, Powell C, Abdelgadir I
Arch Dis Child 2022 Nov;107(11):1023-1028. Epub 2022 Jun 23 doi: 10.1136/archdischild-2022-324042. PMID: 35738870
Eberle C, Stichling S
J Med Internet Res 2021 Feb 19;23(2):e23244. doi: 10.2196/23244. PMID: 33605889Free PMC Article
Nourelden AZ, Elshanbary AA, El-Sherif L, Benmelouka AY, Rohim HI, Helmy SK, Sayed MK, Ismail A, Ali AS, Ragab KM, Zaazouee MS
Endocr Metab Immune Disord Drug Targets 2021;21(10):1895-1904. doi: 10.2174/1871530320999201209222921. PMID: 33302842
Reynolds AN, Akerman AP, Mann J
PLoS Med 2020 Mar;17(3):e1003053. Epub 2020 Mar 6 doi: 10.1371/journal.pmed.1003053. PMID: 32142510Free PMC Article
de Filette JMK, Pen JJ, Decoster L, Vissers T, Bravenboer B, Van der Auwera BJ, Gorus FK, Roep BO, Aspeslagh S, Neyns B, Velkeniers B, Kharagjitsingh AV
Eur J Endocrinol 2019 Sep;181(3):363-374. doi: 10.1530/EJE-19-0291. PMID: 31330498Free PMC Article

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