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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

Precision medicine in the management of type 2 diabetes.
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
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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
The clinical utility of C-peptide measurement in the care of patients with diabetes.
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

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
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
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
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
Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY).
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
Approach to the Patient with MODY-Monogenic Diabetes.
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
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.
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

Monogenic diabetes.
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
Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY).
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
Approach to the Patient with MODY-Monogenic Diabetes.
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
Type 2 diabetes: a multifaceted disease.
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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

Therapeutic opportunities for pancreatic β-cell ER stress in diabetes mellitus.
Yong J, Johnson JD, Arvan P, Han J, Kaufman RJ
Nat Rev Endocrinol 2021 Aug;17(8):455-467. Epub 2021 Jun 23 doi: 10.1038/s41574-021-00510-4. PMID: 34163039Free PMC Article
Monogenic diabetes: a gateway to precision medicine in diabetes.
Zhang H, Colclough K, Gloyn AL, Pollin TI
J Clin Invest 2021 Feb 1;131(3) doi: 10.1172/JCI142244. PMID: 33529164Free PMC Article
Approach to the Patient with MODY-Monogenic Diabetes.
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
Precision medicine in the management of type 2 diabetes.
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
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
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
The clinical consequences of heterogeneity within and between different diabetes types.
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
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.
Yu MG, Keenan HA, Shah HS, Frodsham SG, Pober D, He Z, Wolfson EA, D'Eon S, Tinsley LJ, Bonner-Weir S, Pezzolesi MG, King GL
J Clin Invest 2019 Jul 2;129(8):3252-3263. doi: 10.1172/JCI127397. PMID: 31264968Free PMC Article
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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
The clinical utility of C-peptide measurement in the care of patients with diabetes.
Jones AG, Hattersley AT
Diabet Med 2013 Jul;30(7):803-17. doi: 10.1111/dme.12159. PMID: 23413806Free PMC Article

Clinical prediction guides

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
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
The clinical consequences of heterogeneity within and between different diabetes types.
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
Type 2 diabetes: a multifaceted disease.
Pearson ER
Diabetologia 2019 Jul;62(7):1107-1112. Epub 2019 Jun 3 doi: 10.1007/s00125-019-4909-y. PMID: 31161345Free PMC Article
Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
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
Precision diabetes: learning from monogenic diabetes.
Hattersley AT, Patel KA
Diabetologia 2017 May;60(5):769-777. Epub 2017 Mar 17 doi: 10.1007/s00125-017-4226-2. PMID: 28314945Free PMC Article

Recent systematic reviews

Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.
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
Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
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
Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.
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
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
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
Systematic Review of Polygenic Risk Scores for Type 1 and Type 2 Diabetes.
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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    Related information

    • ClinVar
      Related medical variations
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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