Disease · MONDO_0005066
metabolic disease
6 sourcesdiseases-2026-09-18-0.1.0
Cite this record
ConductScience Library. metabolic disease. Diseases, record MONDO_0005066. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0005066
On this page
Disease
Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.
- Other names
DIS METAB, Disease, Metabolic, Diseases, Metabolic, Disorder of metabolism NOS, Disorder of metabolism NOS (disorder), Generalised metabolic disorder, Generalized metabolic disorder, Generalized metabolic disorder (disorder), MD - Metabolic disorders, METAB DIS, METABOLISM DISORDER NOS, Metabolic Diseases, Metabolic disease (disorder), Metabolic disease, NOS, Metabolic disorder, NOS, Metabolic disorders, Thesaurismoses, Thesaurismosis, Unspecified disorder of metabolism, disease of metabolism, disorder of metabolic process, metabolic disorder, metabolic process disease, metabolism disorder
- Open Targets
- Highest stage of its drugs
- Approval, for 6 of its 28 drugs, from DailyMed, EMA Human Drugs and TTD
- Open Targets
Drugs28
The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.
| Drug | ChEMBL ID | Type | Open Targets' stage | Stage reported by | Reports | Of them trials | Trials shown here | Source |
|---|---|---|---|---|---|---|---|---|
| ALENDRONATE SODIUM | CHEMBL675 | Small molecule | Approval | DailyMed | 1 | 0 | 0 | Drugs and targets |
| DAPAGLIFLOZIN | CHEMBL429910 | Small molecule | Approval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| ELIGLUSTAT TARTRATE | CHEMBL5723563 | Small molecule | Approval | TTD | 1 | 0 | 0 | Drugs and targets |
| SAXAGLIPTIN | CHEMBL2103745 | Small molecule | Approval | EMA Human Drugs | 1 | 0 | 0 | Drugs and targets |
| TALIGLUCERASE ALFA | CHEMBL1964120 | Enzyme | Approval | TTD | 1 | 0 | 0 | Drugs and targets |
| VELAGLUCERASE ALFA | CHEMBL1201865 | Enzyme | Approval | TTD | 1 | 0 | 0 | Drugs and targets |
| SIROLIMUS | CHEMBL413 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| TACROLIMUS | CHEMBL3989887 | Small molecule | Phase 3 | ClinicalTrials.gov | 1 | 1 | 1 | Drugs and targets |
| TRELAGLIPTIN | CHEMBL1650443 | Small molecule | Phase 3 | TTD | 1 | 0 | 0 | Drugs and targets |
| TRELAGLIPTIN SUCCINATE | CHEMBL2105754 | Small molecule | Phase 3 | TTD | 1 | 0 | 0 | Drugs and targets |
1 to 10 of 28
See all 28 drugsTargets64
The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.
| Target | Protein | Its drugs that act on it | Mechanisms | Highest stage of those drugs | Gene in Genes | Source |
|---|---|---|---|---|---|---|
| DPP4 | Dipeptidyl peptidase 4 | 2 | Dipeptidyl peptidase IV inhibitor | Phase 3 | https://conductscience.org/library/genes/1803 | Drugs and targets |
| FKBP1A | Peptidyl-prolyl cis-trans isomerase FKBP1A | 2 | FK506-binding protein 1A inhibitor | Phase 3 | https://conductscience.org/library/genes/2280 | Drugs and targets |
| SLC5A2 | Sodium/glucose cotransporter 2 | 2 | Sodium/glucose cotransporter 2 inhibitor | Approval | https://conductscience.org/library/genes/6524 | Drugs and targets |
| ALDH5A1 | Succinate-semialdehyde dehydrogenase, mitochondrial | 1 | Succinate semialdehyde dehydrogenase inhibitor | Unknown | https://conductscience.org/library/genes/7915 | Drugs and targets |
| COXFA4 | Mitochondrial complex I (NADH dehydrogenase) | 1 | Mitochondrial complex I (NADH dehydrogenase) inhibitor | Unknown | https://conductscience.org/library/genes/4697 | Drugs and targets |
| COXFA4L2 | Mitochondrial complex I (NADH dehydrogenase) | 1 | Mitochondrial complex I (NADH dehydrogenase) inhibitor | Unknown | https://conductscience.org/library/genes/56901 | Drugs and targets |
| FDPS | Farnesyl pyrophosphate synthase | 1 | Farnesyl diphosphate synthase inhibitor | Approval | https://conductscience.org/library/genes/2224 | Drugs and targets |
| FGF1 | FGF1/KLB | 1 | FGF1/KLB agonist | Investigational new drug | https://conductscience.org/library/genes/2246 | Drugs and targets |
| GBA1 | Lysosomal acid glucosylceramidase | 1 | Beta-glucocerebrosidase stabiliser | Phase 2 | https://conductscience.org/library/genes/2629 | Drugs and targets |
| GPD2 | Glycerol-3-phosphate dehydrogenase, mitochondrial | 1 | Mitochondrial glycerol-3-phosphate dehydrogenase inhibitor | Unknown | https://conductscience.org/library/genes/2820 | Drugs and targets |
1 to 10 of 64
See all 64 targetsTrials9
Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 2 more are not shown, since the checks do not confirm them.
| Trial | Title | Phase | Participants | Results first posted | Conditions | Drugs | Linked by | Source |
|---|---|---|---|---|---|---|---|---|
| NCT00167934 | Determining Metabolic Effects of Valproate and Antipsychotic Therapy | Not applicable | 164 | 2020-02-10 | Schizophrenia | VALPROIC ACID | Open Targets' reading of its record | ClinicalTrials.gov |
| NCT00950846 | Umbilical Cord Blood Transplant for Congenital Pediatric Disorders | Not applicable | 40 | 2023-10-30 | Congenital Pediatric Disorders | BUSULFAN, CYCLOPHOSPHAMIDE, FLUDARABINE | Its record names the disease | ClinicalTrials.gov |
| NCT01642056 | EPI-743 for Metabolism or Mitochondrial Disorders | Phase 1/2 | 20 | 2021-04-14 | Mitochondrial Disease, Neurology, Myopathy | VATIQUINONE | Its record names the disease | ClinicalTrials.gov |
| NCT03513328 | Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation | Phase 1/2 | 6 | 2023-09-15 | Bone Marrow Failure Syndrome, Thalassemia, Sickle Cell Disease, Diamond Blackfan Anemia, Acquired Neutropenia in Newborn, Acquired Anemia Hemolytic, Acquired Thrombocytopenia, Hemophagocytic Lymphohistiocytoses, Wiskott-Aldrich Syndrome, Chronic Granulomatous Disease, Common Variable Immunodeficiency, X-linked Lymphoproliferative Disease, Severe Combined Immunodeficiency, Hurler Syndrome, Mannosidosis, Adrenoleukodystrophy | BUSULFAN, FLUDARABINE, THIOTEPA | Its record names the disease | ClinicalTrials.gov |
| NCT00993343 | Randomized Trial Comparing Sirolimus and Tacrolimus Versus Cyclosporine and Methotrexate as Graft-versus-host Disease (GVHD) Prophylaxis After Allogeneic Stem Cell Transplantation | Phase 3 | 215 | Graft-versus-host Disease, Survival | SIROLIMUS, TACROLIMUS | Its record names the disease | ClinicalTrials.gov | |
| NCT05013112 | Ameliorating Metabolic Profiling After Kidney Transplantation (AMPKT) | Not applicable | 105 | Kidney Transplantation, Metabolic Disorder, Metformin, Empagliflozin | METFORMIN | Its record names the disease | ClinicalTrials.gov | |
| NCT07482020 | SGLT2i Improve Left Atrial Function in Patients With Paroxysmal Atrial Fibrillation, Hypertension and Abnormal Glucose Metabolism | Phase 2 | 66 | Atrial Fibrillation (AF), Hypertension | EMPAGLIFLOZIN | Its record names the disease | ClinicalTrials.gov | |
| NCT03680638 | The Effect of Antioxidants on Skin Blood Flow During Local Heating | Phase 1 | 44 | Cardiovascular Diseases, Cardiovascular Risk Factor, Vasodilation | ALLOPURINOL, APOCYNIN, TEMPOL | Its record names the disease | ClinicalTrials.gov | |
| NCT00830531 | Pilot Study of Bumetanide for Newborn Seizures | Phase 1 | 43 | Seizures | BUMETANIDE | Its record names the disease | ClinicalTrials.gov |
Comparisons in its trials3
Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.
| Comparison | Group 1, with the outcome | Group 2, with the outcome | Participants | Trial | Source |
|---|---|---|---|---|---|
| Experimental vs Placebo: serious adverse events | 0 of 24 | 0 of 23 | 47 | NCT00167934 | Trial comparisons |
| EPI-743 vs Placebo: deaths from any cause | 1 of 20 | 0 of 19 | 39 | NCT01642056 | Trial comparisons |
| EPI-743 vs Placebo: serious adverse events | 3 of 20 | 4 of 19 | 39 | NCT01642056 | Trial comparisons |
Papers from its trials3
The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.
Data dates
The date of each source this release read.
Sources 6
- ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- NLM's MeSHNLM's terms
- Open TargetsCC0 1.0
- PubMedNLM's terms
Each source's terms
- ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- NLM's MeSHNLM's
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PubMedNLM's terms
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
For software
Read this disease from software.
The record and each of its lists are JSON, twenty rows a page. No key.
GET https://conductscience.org/api/diseases/v1/MONDO_0005066
GET https://conductscience.org/api/diseases/v1/MONDO_0005066/drugs?page=2