Glucose metabolism disease

Summary

Glucose metabolism disease (MONDO:0002908) is a disease (an umbrella term covering 9 Mondo subtypes) with 19 GWAS associations across 13 studies and 183 clinical trials. Top therapeutic interventions include metformin, rosiglitazone, and berberine. A subtype of metabolic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 9 Mondo subtypes
• GWAS associations: 19
• Clinical trials: 183

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	glucose metabolism disease
Mondo ID	MONDO:0002908
EFO	EFO:0009406
MeSH	D044882
DOID	DOID:4194
NCIT	C53655
SNOMED CT	126877002
UMLS	C1257958
MedGen	226229
Is cancer (heuristic)	no

Also known as: disorder of glucose metabolism · glucose metabolism disorder

Data availability: 19 GWAS associations (13 studies).

Disease family

This is a subtype of metabolic disease. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by developmental or physiological process › metabolic disease › glucose metabolism disease

Related subtypes (36): glutaric aciduria, mineral metabolism disease, xanthinuria, chondrocalcinosis, ochronosis disorder, diabetic kidney disease, xanthoma, diabetic retinopathy, hypertriglyceridemia, gout, lactic acidosis, acquired metabolic disease, lipodystrophy, developmental anomaly of metabolic origin, dopa-responsive dystonia, hypoalphalipoproteinemia, steroid dehydrogenase deficiency-dental anomalies syndrome, inborn errors of metabolism, vitamin B12 deficiency, proteostasis deficiencies, hyperlipidemia, disorder of GPI anchor biosynthesis, bilirubin metabolism disease, hyperlipoproteinemia, carbohydrate metabolism disease, porphyrin metabolism disease, purine metabolism disease, amino acid metabolism disease, pyrimidine metabolism disease, disorder of acid-base balance, disorder of glutamate decarboxylase, tumor lysis syndrome, collagenous sprue, steroid metabolism disease, disorder of organic acid metabolism, skeletal fluorosis

Subtypes (9): glucose intolerance, hyperinsulinism, hyperglycemia, hypoglycemia, diabetes mellitus, prediabetes syndrome, triosephosphate isomerase deficiency, disorder of gluconeogenesis, glyceraldehyde-3-phosphate dehydrogenase deficiency

Genetics & variants

GWAS landscape

19 GWAS associations across 13 studies. Top hits map to 6 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs560887	2e-76	SPC25, G6PC2	T	0.12
rs1799884	1e-68	GCK	C	0.11
rs10830963	4e-62	MTNR1B	C	0.1
rs741037	9e-56	GCK	G	0.12
chr7:44223942	3e-39		G	0.13
rs10258074	3e-15	GTF3AP5 - AGMO	A	0.04
chr7:15064255	3e-14		G	0.05
rs17476364	3e-13	HK1	T	0.07
rs1337918	4e-13	FOXA2 - LNCNEF	C	0.07
rs144440467	5e-10	NKX2-1-AS1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475682	Verma A	2024	69,640	338,815	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475683	Verma A	2024	40,912	388,446	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475681	Verma A	2024	20,786	86,890	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479889	Verma A	2024	20,786	86,890	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477323	Verma A	2024	9,853	105,576	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479887	Verma A	2024	9,853	105,576	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477319	Verma A	2024	9,711	43,898	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477321	Verma A	2024	5,563	50,952	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651279	Liu TY	2025	1,942	196,787	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477320	Verma A	2024	1,056	5,166	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	9

MAF distribution

Bucket	Variants
common (>=0.05)	9
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	4
intergenic_variant	3
unknown	2
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs560887	2	168906638	T>A,C,G	0.297	intron_variant	SPC25, G6PC2	2e-76	Tier 4: intronic/intergenic
rs1799884	7	44189469	C>A,G,T	0.176	intergenic_variant	GCK	1e-68	Tier 4: intronic/intergenic
rs10830963	11	92975544	C>G,T	0.236	intron_variant	MTNR1B	4e-62	Tier 4: intronic/intergenic
rs741037	7	44193234	G>A	0.176	intergenic_variant	GCK	9e-56	Tier 4: intronic/intergenic
chr7:44223942				0.174			3e-39	Tier 4: intronic/intergenic
rs10258074	7	15024591	A>T	0.467	intergenic_variant	GTF3AP5 - AGMO	3e-15	Tier 4: intronic/intergenic
chr7:15064255				0.469			3e-14	Tier 4: intronic/intergenic
rs17476364	10	69334748	T>C	0.097	intron_variant	HK1	3e-13	Tier 4: intronic/intergenic
rs1337918	20	22586970	C>A,G	0.102	regulatory_region_variant	FOXA2 - LNCNEF	4e-13	Tier 3: regulatory
rs144440467	14	36552352	A>G		intron_variant	NKX2-1-AS1	5e-10	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 183.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	135
PHASE4	12
PHASE2	12
PHASE3	10
PHASE1	9
PHASE1/PHASE2	3
PHASE2/PHASE3	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06448130	PHASE4	NOT_YET_RECRUITING	Henagliflozin’s Impact on Prediabetes Remission
NCT00108615	PHASE4	COMPLETED	Effects of Insulin Sensitizers in Subjects With Impaired Glucose Tolerance
NCT00192621	PHASE4	COMPLETED	Seronegatives and Metabolic Abnormalities Protocol 2 (SAMA002): Study to Compare the Effect of Kaletra and Combivir® in HIV-Negative Healthy Subjects
NCT00306826	PHASE4	WITHDRAWN	Pioglitazone in Impaired Glucose Tolerance
NCT00483769	PHASE4	COMPLETED	One Year Glargine Treatment in CFRD Children and Adolescents
NCT01028846	PHASE4	TERMINATED	Central Mechanisms That Regulate Glucose Metabolism in Humans
NCT02689765	PHASE4	COMPLETED	Effect of Anthocyanins on Metabolic Profiles in Subjects With Pre-diabetes
NCT04242758	PHASE4	UNKNOWN	Phthalates Exposure in Type 2 Diabetic Patients and Diuretic Therapy
NCT04945122	PHASE4	UNKNOWN	Comparison of Atorvastatin and Pitavastatin on the Effect of HbA1c in AMI Patients With Abnormal Glucose Metabolism
NCT05084079	PHASE4	UNKNOWN	Different Initial Insulin Dose Regimens on Time to Achieve Glycemic Targets and Treatment Safety in SIIT
NCT05348694	PHASE4	UNKNOWN	OsteoPreP: Food Supplements for Postmenopausal Bone Health
NCT06145360	PHASE4	COMPLETED	Evaluating the Efficacy and Safety of Empagliflozin Addition to Insulin and Oral Antidiabetic Medication (OAD) Regimen in Poorly Controlled Type 2 Diabetes and Obese Patient
NCT06535789	PHASE2/PHASE3	RECRUITING	Inhaled Insulin vs Rapid-acting Injections for Post-meal Glucose Control in Women With Gestational Diabetes
NCT07613307	PHASE3	NOT_YET_RECRUITING	A Study of Orforglipron (LY3502970) in Participants With Type 2 Diabetes Who Observe Ramadan Fasting
NCT00095654	PHASE3	COMPLETED	The DREAM (Diabetes Reduction Assessment With Ramipril and Rosiglitazone Medication) Trial
NCT00221156	PHASE3	COMPLETED	Acarbose and Secondary Prevention After Coronary Stenting
NCT00361868	PHASE3	TERMINATED	Fenofibrate and Metformin Fixed Combination vs Rosiglitazone - FAME ROSI
NCT00935766	PHASE3	TERMINATED	Effect of Fish Oil (Omega-3 Fatty Acids) on Arteries
NCT04371978	PHASE3	TERMINATED	Efficacy and Safety of Dipeptidyl Peptidase-4 Inhibitors in Diabetic Patients With Established COVID-19
NCT04809220	PHASE3	COMPLETED	A Study of Two Doses of Dulaglutide (LY2189265) in Japanese Patients With Type 2 Diabetes
NCT05260021	PHASE3	COMPLETED	A Study to Evaluate Tirzepatide (LY3298176) in Pediatric and Adolescent Participants With Type 2 Diabetes Mellitus Inadequately Controlled With Metformin or Basal Insulin or Both
NCT05505994	PHASE3	UNKNOWN	The Efficacy and Safety of DWP16001 in Combination With Metformin in T2DM Patients Inadequately Controlled on Metformin
NCT05691712	PHASE3	COMPLETED	A Study of Tirzepatide (LY3298176) in Chinese Participants With Type 2 Diabetes
NCT03540758	PHASE2	RECRUITING	Regulation of Endogenous Glucose Production by Central KATP Channels
NCT06860087	PHASE1/PHASE2	NOT_YET_RECRUITING	Impact of Chromium Supplementation on Glucido-lipidic Metabolism, Oxidative Stress and Inflammatory State in Patients with Gestational Diabetes
NCT07580079	PHASE2	NOT_YET_RECRUITING	Anakinra for the Treatment of Postprandial Hypoglycemia in a Patient With Total Gastrectomy and End-Stage Renal Disease
NCT01778348	PHASE2	COMPLETED	Closing the Loop in Children and Adolescents With Type 1 Diabetes in the Home Setting
NCT01935804	PHASE2	COMPLETED	Effect of Pioglitazone Versus Metformin on Bone Health in Postmenopausal Women With Type 2 Diabetes
NCT02102737	PHASE2	COMPLETED	Comparison of A New Technique of Measure of the Insulin Resistance By Scintigraphy With the Reference Technique
NCT02644759	PHASE1/PHASE2	COMPLETED	Transplantation of Autologous Stem Cells for the Treatment of Type 1 Diabetes Mellitus
NCT03181399	PHASE2	COMPLETED	Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
NCT03204877	PHASE1/PHASE2	COMPLETED	Acute Metabolic Effects of Melatonin Treatment
NCT03345004	PHASE2	COMPLETED	Diamyd Administered Into Lymph Nodes in Combination With Vitamin D in Type 1 Diabetes
NCT03486223	PHASE2	COMPLETED	Soluble Epoxide Hydrolase Inhibition and Insulin Resistance
NCT03682640	PHASE2	UNKNOWN	Azithromycin Insulin Diet Intervention Trial in Type 1 Diabetes
NCT03685773	PHASE2	WITHDRAWN	The Role of Hepatic Denervation in the Dysregulation of Glucose Metabolism in Liver Transplant Recipients
NCT04662866	PHASE2	UNKNOWN	Effects of Glucose Lowering Agents in South Asian Women With Impaired Glucose Tolerance or Impaired Fasting Glucose
NCT04824872	PHASE2	WITHDRAWN	Efficacy and Safety of Dasiglucagon for Treatment of Post-bariatric Hypoglycemia in Roux-en-Y Gastric Bypass (RYGB) Operated Adults
NCT01102673	PHASE1	COMPLETED	Single Dose Study of PF-04991532 in Healthy Subjects
NCT01103245	PHASE1	COMPLETED	Aldosterone and the Metabolic Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
METFORMIN	4	5
ROSIGLITAZONE	4	4
BERBERINE	4	3
DIAZOXIDE	4	3
ACARBOSE	4	2
NIACIN	4	2
PIOGLITAZONE	4	2
PITAVASTATIN	4	2
TRIHEPTANOIN	4	2
ACIPIMOX	4	1
COLESEVELAM	4	1
DAPAGLIFLOZIN	4	1
DULAGLUTIDE	4	1
EMPAGLIFLOZIN	4	1
GLUCAGON	4	1
HYDROCHLOROTHIAZIDE	4	1
INSULIN GLARGINE	4	1
INSULIN LISPRO	4	1
LAMIVUDINE	4	1
LINAGLIPTIN	4	1
RAMIPRIL	4	1
SIMVASTATIN	4	1
TIRZEPATIDE	4	1
AVEXITIDE	3	2
SUCRALOSE	3	2
COCOA	3	1
DASIGLUCAGON	3	1
ENAVOGLIFLOZIN	3	1
GHRELIN	3	1
GLUCAGON-LIKE PEPTIDE II	3	1