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Type 1 diabetes mellitus 20(T1D20)

MedGen UID:
382706
Concept ID:
C2675866
Disease or Syndrome
Synonyms: Diabetes mellitus, insulin-dependent, 20; T1D20
 
Gene (location): HNF1A (12q24.31)
 
Monarch Initiative: MONDO:0012919
OMIM®: 612520

Definition

An inherited susceptibility or predisposition to developing type 1 diabetes mellitus in which the cause of the disease is a mutation in the HNF1A gene. [from MONDO]

Clinical features

From HPO
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

Yapanis M, James S, Craig ME, O'Neal D, Ekinci EI
J Clin Endocrinol Metab 2022 May 17;107(6):e2221-e2236. doi: 10.1210/clinem/dgac034. PMID: 35094087Free PMC Article
Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198Free PMC Article
Gross JL, de Azevedo MJ, Silveiro SP, Canani LH, Caramori ML, Zelmanovitz T
Diabetes Care 2005 Jan;28(1):164-76. doi: 10.2337/diacare.28.1.164. PMID: 15616252

Recent clinical studies

Etiology

Yapanis M, James S, Craig ME, O'Neal D, Ekinci EI
J Clin Endocrinol Metab 2022 May 17;107(6):e2221-e2236. doi: 10.1210/clinem/dgac034. PMID: 35094087Free PMC Article
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free 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
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
Pociot F, McDermott MF
Genes Immun 2002 Aug;3(5):235-49. doi: 10.1038/sj.gene.6363875. PMID: 12140742

Diagnosis

Edwards M, Kudzinskas A, Alazawi A, Hughes W, Goodall R, Harbinson E, Salciccioli J, Marshall D, Shalhoub J
Diab Vasc Dis Res 2023 Nov-Dec;20(6):14791641231221763. doi: 10.1177/14791641231221763. PMID: 38128564Free PMC Article
Ben-Skowronek I
Genes (Basel) 2021 Feb 24;12(3) doi: 10.3390/genes12030323. PMID: 33668198Free PMC Article
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Winston AP
Curr Diab Rep 2020 Jun 15;20(8):32. doi: 10.1007/s11892-020-01320-0. PMID: 32537669
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

Therapy

Beunen K, Van Wilder N, Ballaux D, Vanhaverbeke G, Taes Y, Aers XP, Nobels F, Marlier J, Lee D, Cuypers J, Preumont V, Siegelaar SE, Painter RC, Laenen A, Gillard P, Mathieu C, Benhalima K
BMC Pregnancy Childbirth 2023 Mar 16;23(1):180. doi: 10.1186/s12884-023-05481-0. PMID: 36927458Free PMC Article
Alarcón-Gómez J, Chulvi-Medrano I, Martin-Rivera F, Calatayud J
Int J Environ Res Public Health 2021 Nov 30;18(23) doi: 10.3390/ijerph182312612. PMID: 34886337Free PMC Article
Li S, Hu Y, Tan X, Wang D, Hu J, Zou P, Wang L
Expert Opin Pharmacother 2020 Aug;21(11):1311-1318. Epub 2020 Apr 8 doi: 10.1080/14656566.2020.1747432. PMID: 32267182
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
Campbell F, Biggs K, Aldiss SK, O'Neill PM, Clowes M, McDonagh J, While A, Gibson F
Cochrane Database Syst Rev 2016 Apr 29;4(4):CD009794. doi: 10.1002/14651858.CD009794.pub2. PMID: 27128768Free 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
Ziegler AG, Kick K, Bonifacio E, Haupt F, Hippich M, Dunstheimer D, Lang M, Laub O, Warncke K, Lange K, Assfalg R, Jolink M, Winkler C, Achenbach P; Fr1da Study Group
JAMA 2020 Jan 28;323(4):339-351. doi: 10.1001/jama.2019.21565. PMID: 31990315Free PMC Article
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
Meirelles Júnior RF, Salvalaggio P, Pacheco-Silva A
Einstein (Sao Paulo) 2015 Apr-Jun;13(2):305-9. doi: 10.1590/S1679-45082015RW3163. PMID: 26154551Free PMC Article

Clinical prediction guides

Edwards M, Kudzinskas A, Alazawi A, Hughes W, Goodall R, Harbinson E, Salciccioli J, Marshall D, Shalhoub J
Diab Vasc Dis Res 2023 Nov-Dec;20(6):14791641231221763. doi: 10.1177/14791641231221763. PMID: 38128564Free PMC Article
Rotbain Curovic V, Theilade S, Winther SA, Tofte N, Tarnow L, Jorsal A, Parving HH, Persson F, Hansen TW, Rossing P
Diabet Med 2021 May;38(5):e14459. Epub 2020 Nov 23 doi: 10.1111/dme.14459. PMID: 33179275
Primavera M, Giannini C, Chiarelli F
Front Endocrinol (Lausanne) 2020;11:248. Epub 2020 Jun 2 doi: 10.3389/fendo.2020.00248. PMID: 32670194Free PMC Article
Nunley KA, Ryan CM, Orchard TJ, Aizenstein HJ, Jennings JR, Ryan J, Zgibor JC, Boudreau RM, Costacou T, Maynard JD, Miller RG, Rosano C
Neurology 2015 May 19;84(20):2062-9. Epub 2015 Apr 22 doi: 10.1212/WNL.0000000000001582. PMID: 25904692Free PMC Article
Dahlquist G
Acta Paediatr Suppl 1999 Dec;88(432):80-2. doi: 10.1111/j.1651-2227.1999.tb01166.x. PMID: 10626587

Recent systematic reviews

Seidu S, Kunutsor SK, Ajjan RA, Choudhary P
Diabetes Care 2024 Jan 1;47(1):169-179. doi: 10.2337/dc23-1520. PMID: 38117991
Perais J, Agarwal R, Evans JR, Loveman E, Colquitt JL, Owens D, Hogg RE, Lawrenson JG, Takwoingi Y, Lois N
Cochrane Database Syst Rev 2023 Feb 22;2(2):CD013775. doi: 10.1002/14651858.CD013775.pub2. PMID: 36815723Free PMC Article
Malaza N, Masete M, Adam S, Dias S, Nyawo T, Pheiffer C
Int J Environ Res Public Health 2022 Aug 31;19(17) doi: 10.3390/ijerph191710846. PMID: 36078559Free PMC Article
Garcia-Larsen V, Ierodiakonou D, Jarrold K, Cunha S, Chivinge J, Robinson Z, Geoghegan N, Ruparelia A, Devani P, Trivella M, Leonardi-Bee J, Boyle RJ
PLoS Med 2018 Feb;15(2):e1002507. Epub 2018 Feb 28 doi: 10.1371/journal.pmed.1002507. PMID: 29489823Free PMC Article
Campbell F, Biggs K, Aldiss SK, O'Neill PM, Clowes M, McDonagh J, While A, Gibson F
Cochrane Database Syst Rev 2016 Apr 29;4(4):CD009794. doi: 10.1002/14651858.CD009794.pub2. PMID: 27128768Free PMC Article

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