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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMonogenic diabetes

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of endocrine system
        Diabetes mellitus
        Monogenic diabetes
        Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
        Alstrom syndrome
        Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
        DEND syndrome
        Diabetes mellitus, transient neonatal, 1
        Diabetes-deafness syndrome maternally transmitted
        H syndrome
        Hereditary pancreatitis
        Pancreatitis, chronic, susceptibility to
        Tropical pancreatitis
        Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
        Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
        K ATP Channel-Associated Diabetes Mellitus
        K ATP Permanent Neonatal Diabetes
        Kir6.2-Associated Diabetes Mellitus
        Maturity onset diabetes mellitus in young
        Maturity-onset diabetes of the young type 1
        Maturity-onset diabetes of the young type 2
        Maturity-onset diabetes of the young type 3
        Maturity-onset diabetes of the young type 4
        Maturity-onset diabetes of the young type 6
        Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
        Microcephaly, epilepsy, and diabetes syndrome
        Microcephaly, epilepsy, and diabetes syndrome 1
        Microcephaly, epilepsy, and diabetes syndrome 2
        Myopathy and diabetes mellitus
        Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
        Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
        Renal cysts and diabetes syndrome
        SUR1-Associated Diabetes Mellitus
        Transcription Factor-Associated Monogenic Diabetes
        Wolcott-Rallison dysplasia
        Wolfram syndrome
        Wolfram syndrome 1
        Wolfram syndrome 2
        Wolfram syndrome, mitochondrial form
        Wolfram-like syndrome
        Woodhouse-Sakati syndrome

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: 29406006 Free 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: 23413806 Free PMC Article

See all (75)

Recent clinical studies

Etiology

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: 35638342 Free PMC Article

HNF1A：From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus.

Li LM, Jiang BG, Sun LL
Front Endocrinol (Lausanne) 2022;13:829565. Epub 2022 Mar 1 doi: 10.3389/fendo.2022.829565. PMID: 35299962 Free PMC Article

Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges.

Timsit J, Ciangura C, Dubois-Laforgue D, Saint-Martin C, Bellanne-Chantelot C
Front Endocrinol (Lausanne) 2021;12:802423. Epub 2022 Jan 5 doi: 10.3389/fendo.2021.802423. PMID: 35069449 Free 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: 33034350 Free 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

See all (226)

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

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: 33034350 Free 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: 31161345 Free 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: 29406006 Free PMC Article

See all (384)

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: 34163039 Free 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: 33529164 Free 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: 33034350 Free 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: 29406006 Free PMC Article

See all (110)

Prognosis

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: 32894314 Free PMC Article

Monogenic Diabetes: Genetics and Relevance on Diabetes Mellitus Personalized Medicine.

Sousa M, Bruges-Armas J
Curr Diabetes Rev 2020;16(8):807-819. doi: 10.2174/1573399816666191230114352. PMID: 31886753

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: 29406006 Free 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: 28314945 Free 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: 23413806 Free PMC Article

See all (154)

Clinical prediction guides

The clinical consequences of heterogeneity within and between different diabetes types.

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: 31161345 Free 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: 29406006 Free 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: 28314945 Free PMC Article

Personalized medicine in diabetes mellitus: current opportunities and future prospects.

Kleinberger JW, Pollin TI
Ann N Y Acad Sci 2015 Jun;1346(1):45-56. Epub 2015 Apr 23 doi: 10.1111/nyas.12757. PMID: 25907167 Free PMC Article

See all (138)

Recent systematic reviews

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: 32131491 Free PMC Article

See all (4)

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Monogenic diabetes

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity