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Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.
Features include always present findings: Maturity-onset diabetes of the young.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Hormones | 1 | Maturity-onset diabetes of the young |
GCK encodes glucokinase (465 aa). Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively). Highest expression in Pituitary (34.5 TPM) and Brain Cerebellar Hemisphere (7.2 TPM).
Maturity-onset diabetes of the young type 2 is associated with mutations in the GCK gene on chromosome 7.
GCK is classified as a druggable target (Druggable Genome, Enzyme, and Kinase categories) with score 6.5.
Genetic testing for GCK is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for maturity-onset diabetes of the young type 2 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, procedural interventions, and biologic therapy. Pipeline includes 1 EARLY_PHASE1. Research is primarily sponsored by academic and government institutions.
118 publications have been identified in PubMed for maturity-onset diabetes of the young type 2. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 31 | 26% |
Laboratory research | 25 | 21% |
Research summaries | 24 | 20% |
Disease patterns and progression | 22 | 19% |
Testing and diagnosis research | 10 | 8% |
Clinical study results | 4 | 3% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Fatani TH (2026). [PMID: 41772505](https://pubmed.ncbi.nlm.nih.gov/41772505/). *BMC Pediatr*. [Case Report / Case Series]
Lin J (2026). [PMID: 42155026](https://pubmed.ncbi.nlm.nih.gov/42155026/). *QJM*. [Case Report / Case Series]
Expósito García M (2026). [PMID: 41670436](https://pubmed.ncbi.nlm.nih.gov/41670436/). *J Endocrinol*. [Basic Science / Preclinical]
Harvengt A (2026). [PMID: 41827917](https://pubmed.ncbi.nlm.nih.gov/41827917/). *Cells*. [Epidemiology / Natural History]
Louvet I (2026). [PMID: 42100870](https://pubmed.ncbi.nlm.nih.gov/42100870/). *JCI Insight*. [Basic Science / Preclinical]
Laver TW (2026). [PMID: 41772234](https://pubmed.ncbi.nlm.nih.gov/41772234/). *Diabetologia*. [Review / Meta-Analysis]
Sharma PP (2026). [PMID: 41938311](https://pubmed.ncbi.nlm.nih.gov/41938311/). *AACE Endocrinol Diabetes*. [Case Report / Case Series]
Sharp LN (2026). [PMID: 41175096](https://pubmed.ncbi.nlm.nih.gov/41175096/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Arosemena M (2026). [PMID: 41232044](https://pubmed.ncbi.nlm.nih.gov/41232044/). *Diabetes*. [Clinical Trial Publication]
Slaoui K (2026). [PMID: 41307241](https://pubmed.ncbi.nlm.nih.gov/41307241/). *J Biomol Struct Dyn*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:34 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
AI-curated news mentioning maturity-onset diabetes of the young type 2
Updated Jul 28, 2026
A multicenter retrospective study evaluates the long-term effects of lobeglitazone on renal function and albuminuria in Korean patients with type 2 diabetes mellitus. The findings contribute to understanding the drug's impact on kidney health in this population.
A recent study highlights the impact of intraductal papillary mucinous neoplasm on glycemic control in a patient with type 2 diabetes mellitus. This research underscores the need for further investigation into the relationship between pancreatic neoplasms and diabetes management.
A case report highlights the occurrence of insulinoma complicated by hypergastrinemia in a patient with type 2 diabetes mellitus. This finding may provide insights into the complex interactions between these conditions.
Pfizer has entered a deal with Sciwind Biosciences potentially worth up to $495 million to license Ecnoglutide, which is approved in China for type 2 diabetes mellitus. The drug's marketing application for weight loss has also been accepted by Chinese regulatory authorities.