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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

Daamouch S, Emini L, Rauner M, Hofbauer LC
Curr Osteoporos Rep 2022 Jun;20(3):194-201. Epub 2022 Jun 8 doi: 10.1007/s11914-022-00731-0. PMID: 35672565Free PMC Article
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

Diagnosis

Daamouch S, Emini L, Rauner M, Hofbauer LC
Curr Osteoporos Rep 2022 Jun;20(3):194-201. Epub 2022 Jun 8 doi: 10.1007/s11914-022-00731-0. PMID: 35672565Free 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

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
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
Heller S, White D, Lee E, Lawton J, Pollard D, Waugh N, Amiel S, Barnard K, Beckwith A, Brennan A, Campbell M, Cooper C, Dimairo M, Dixon S, Elliott J, Evans M, Green F, Hackney G, Hammond P, Hallowell N, Jaap A, Kennon B, Kirkham J, Lindsay R, Mansell P, Papaioannou D, Rankin D, Royle P, Smithson WH, Taylor C
Health Technol Assess 2017 Apr;21(20):1-278. doi: 10.3310/hta21200. PMID: 28440211Free PMC Article
Mathieu C, Zinman B, Hemmingsson JU, Woo V, Colman P, Christiansen E, Linder M, Bode B; ADJUNCT ONE Investigators
Diabetes Care 2016 Oct;39(10):1702-10. Epub 2016 Aug 9 doi: 10.2337/dc16-0691. PMID: 27506222
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

Tönnies T, Brinks R, Isom S, Dabelea D, Divers J, Mayer-Davis EJ, Lawrence JM, Pihoker C, Dolan L, Liese AD, Saydah SH, D'Agostino RB, Hoyer A, Imperatore G
Diabetes Care 2023 Feb 1;46(2):313-320. doi: 10.2337/dc22-0945. PMID: 36580405Free PMC Article
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
Divers J, Mayer-Davis EJ, Lawrence JM, Isom S, Dabelea D, Dolan L, Imperatore G, Marcovina S, Pettitt DJ, Pihoker C, Hamman RF, Saydah S, Wagenknecht LE
MMWR Morb Mortal Wkly Rep 2020 Feb 14;69(6):161-165. doi: 10.15585/mmwr.mm6906a3. PMID: 32053581Free 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

Clinical prediction guides

Daamouch S, Emini L, Rauner M, Hofbauer LC
Curr Osteoporos Rep 2022 Jun;20(3):194-201. Epub 2022 Jun 8 doi: 10.1007/s11914-022-00731-0. PMID: 35672565Free PMC Article
Karges B, Prinz N, Placzek K, Datz N, Papsch M, Strier U, Agena D, Bonfig W, Kentrup H, Holl RW
Diabetes Care 2021 May;44(5):1116-1124. Epub 2021 Apr 6 doi: 10.2337/dc20-1829. PMID: 33824143
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
Maffi P, Secchi A
Dev Ophthalmol 2017;60:1-5. Epub 2017 Apr 20 doi: 10.1159/000459641. PMID: 28427059
Moulder R, Lahesmaa R
Pediatr Diabetes 2016 Jul;17 Suppl 22:43-8. doi: 10.1111/pedi.12329. PMID: 27411436

Recent systematic reviews

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
Fazeli Farsani S, Brodovicz K, Soleymanlou N, Marquard J, Wissinger E, Maiese BA
BMJ Open 2017 Aug 1;7(7):e016587. doi: 10.1136/bmjopen-2017-016587. PMID: 28765134Free 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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