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Monogenic diabetes

MedGen UID:
1392102
Concept ID:
C3888631
Disease or Syndrome
Synonyms: Monogenic Diabetes; monogenic diabetes; rare genetic diabetes mellitus; Rare genetic diabetes mellitus
 
Monarch Initiative: MONDO:0015967
Orphanet: ORPHA183625

Definition

Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMonogenic diabetes

Professional guidelines

PubMed

Gloyn AL, Drucker DJ
Lancet Diabetes Endocrinol 2018 Nov;6(11):891-900. Epub 2018 Apr 23 doi: 10.1016/S2213-8587(18)30052-4. PMID: 29699867
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Jones AG, Hattersley AT
Diabet Med 2013 Jul;30(7):803-17. doi: 10.1111/dme.12159. PMID: 23413806Free PMC Article

Recent clinical studies

Etiology

GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Mirshahi UL, Colclough K, Wright CF, Wood AR, Beaumont RN, Tyrrell J, Laver TW, Stahl R, Golden A, Goehringer JM; Geisinger-Regeneron DiscovEHR Collaboration, Frayling TF, Hattersley AT, Carey DJ, Weedon MN, Patel KA
Am J Hum Genet 2022 Nov 3;109(11):2018-2028. Epub 2022 Oct 17 doi: 10.1016/j.ajhg.2022.09.014. PMID: 36257325Free PMC Article
Tosur M, Philipson LH
J Diabetes Investig 2022 Sep;13(9):1465-1471. Epub 2022 Jun 16 doi: 10.1111/jdi.13860. PMID: 35638342Free PMC Article
Broome DT, Pantalone KM, Kashyap SR, Philipson LH
J Clin Endocrinol Metab 2021 Jan 1;106(1):237-250. doi: 10.1210/clinem/dgaa710. PMID: 33034350Free PMC Article
Bonnefond A, Boissel M, Bolze A, Durand E, Toussaint B, Vaillant E, Gaget S, Graeve F, Dechaume A, Allegaert F, Guilcher DL, Yengo L, Dhennin V, Borys JM, Lu JT, Cirulli ET, Elhanan G, Roussel R, Balkau B, Marre M, Franc S, Charpentier G, Vaxillaire M, Canouil M, Washington NL, Grzymski JJ, Froguel P
Nat Metab 2020 Oct;2(10):1126-1134. Epub 2020 Oct 12 doi: 10.1038/s42255-020-00294-3. PMID: 33046911

Diagnosis

Bonnefond A, Unnikrishnan R, Doria A, Vaxillaire M, Kulkarni RN, Mohan V, Trischitta V, Froguel P
Nat Rev Dis Primers 2023 Mar 9;9(1):12. doi: 10.1038/s41572-023-00421-w. PMID: 36894549
Tosur M, Philipson LH
J Diabetes Investig 2022 Sep;13(9):1465-1471. Epub 2022 Jun 16 doi: 10.1111/jdi.13860. PMID: 35638342Free PMC Article
Broome DT, Pantalone KM, Kashyap SR, Philipson LH
J Clin Endocrinol Metab 2021 Jan 1;106(1):237-250. doi: 10.1210/clinem/dgaa710. PMID: 33034350Free PMC Article
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article

Therapy

Patni N, Garg A
Curr Diab Rep 2022 Sep;22(9):461-470. Epub 2022 Jul 11 doi: 10.1007/s11892-022-01485-w. PMID: 35821558Free PMC Article
Zhang H, Colclough K, Gloyn AL, Pollin TI
J Clin Invest 2021 Feb 1;131(3) doi: 10.1172/JCI142244. PMID: 33529164Free PMC Article
Broome DT, Pantalone KM, Kashyap SR, Philipson LH
J Clin Endocrinol Metab 2021 Jan 1;106(1):237-250. doi: 10.1210/clinem/dgaa710. PMID: 33034350Free PMC Article
Gloyn AL, Drucker DJ
Lancet Diabetes Endocrinol 2018 Nov;6(11):891-900. Epub 2018 Apr 23 doi: 10.1016/S2213-8587(18)30052-4. PMID: 29699867
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article

Prognosis

GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Redondo MJ, Hagopian WA, Oram R, Steck AK, Vehik K, Weedon M, Balasubramanyam A, Dabelea D
Diabetologia 2020 Oct;63(10):2040-2048. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05211-7. PMID: 32894314Free PMC Article
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG
Hum Mutat 2017 Jul;38(7):764-777. Epub 2017 Jun 1 doi: 10.1002/humu.23233. PMID: 28432734Free PMC Article
Jones AG, Hattersley AT
Diabet Med 2013 Jul;30(7):803-17. doi: 10.1111/dme.12159. PMID: 23413806Free PMC Article

Clinical prediction guides

GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Redondo MJ, Hagopian WA, Oram R, Steck AK, Vehik K, Weedon M, Balasubramanyam A, Dabelea D
Diabetologia 2020 Oct;63(10):2040-2048. Epub 2020 Sep 7 doi: 10.1007/s00125-020-05211-7. PMID: 32894314Free PMC Article
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article
Lemelman MB, Letourneau L, Greeley SAW
Clin Perinatol 2018 Mar;45(1):41-59. Epub 2017 Dec 16 doi: 10.1016/j.clp.2017.10.006. PMID: 29406006Free PMC Article
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG
Hum Mutat 2017 Jul;38(7):764-777. Epub 2017 Jun 1 doi: 10.1002/humu.23233. PMID: 28432734Free PMC Article

Recent systematic reviews

Chen Y, Hu X, Zhao M
J Diabetes 2024 Mar;16(3):e13520. Epub 2023 Dec 14 doi: 10.1111/1753-0407.13520. PMID: 38095268Free PMC Article
Perge K, Nicolino M
Rev Endocr Metab Disord 2022 Oct;23(5):1063-1078. Epub 2022 Aug 23 doi: 10.1007/s11154-022-09749-2. PMID: 35996042
de Gouveia Buff Passone C, Giani E, Vaivre-Douret L, Kariyawasam D, Berdugo M, Garcin L, Beltrand J, Bernardo WM, Polak M
Pediatr Diabetes 2022 Sep;23(6):675-692. Epub 2022 Jun 24 doi: 10.1111/pedi.13376. PMID: 35657808
Garcin L, Mericq V, Fauret-Amsellem AL, Cave H, Polak M, Beltrand J
Pediatr Diabetes 2020 Sep;21(6):932-941. Epub 2020 Jul 20 doi: 10.1111/pedi.13041. PMID: 32418263
Padilla-Martínez F, Collin F, Kwasniewski M, Kretowski A
Int J Mol Sci 2020 Mar 2;21(5) doi: 10.3390/ijms21051703. PMID: 32131491Free PMC Article

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