Mitral valve disorder
diseaseOn this page
Also known as disease of mitral valvedisease or disorder of mitral valvedisorder of mitral valvemitral valve diseasemitral valve disease or disorderrheumatic disease of mitral valverheumatic mitral insufficiencyrheumatic mitral valve changesrheumatic mitral valve incompetencerheumatic mitral valve regurgitation
Summary
Mitral valve disorder (MONDO:0003767) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 GWAS associations across 17 studies and 80 clinical trials. Top therapeutic interventions include acetaminophen, oxycodone, and aminolevulinic acid. A subtype of heart valve disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 7 Mondo subtypes
- GWAS associations: 1
- Clinical trials: 80
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | mitral valve disorder |
| Mondo ID | MONDO:0003767 |
| EFO | EFO:0009557 |
| DOID | DOID:61 |
| ICD-11 | 1997348476 |
| NCIT | C78446 |
| SNOMED CT | 11851006 |
| UMLS | C0026265 |
| MedGen | 7669 |
| Anatomy (UBERON) | UBERON:0002135 |
| Is cancer (heuristic) | no |
Also known as: disease of mitral valve · disease or disorder of mitral valve · disorder of mitral valve · mitral valve disease · mitral valve disease or disorder · mitral valve disorder · rheumatic disease of mitral valve · rheumatic mitral insufficiency · rheumatic mitral valve changes · rheumatic mitral valve incompetence · rheumatic mitral valve regurgitation
Data availability: 1 GWAS association (17 studies).
Disease family
This is a subtype of heart valve disorder. 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 body system or component › cardiovascular disorder › heart disorder › heart valve disorder › mitral valve disorder
Related subtypes (3): tricuspid valve disorder, pulmonary valve disorder, aortic valve disorder
Subtypes (7): mitral valve prolapse, mitral valve stenosis, congenital anomaly of the mitral subvalvular apparatus, mitral atresia disorder, inherited mitral valve disease, rheumatic disease of mitral valve, mitral valve insufficiency
Genetics & variants
GWAS landscape
1 GWAS associations across 17 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12513741 | 3e-07 | CDH12 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477840 | Verma A | 2024 | 11,972 | 423,954 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473557 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 7,955 | 450,485 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90079993 | Backman JD | 2021 | 3,369 | 383,491 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083979 | Backman JD | 2021 | 3,369 | 383,491 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90079991 | Backman JD | 2021 | 2,987 | 384,345 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083977 | Backman JD | 2021 | 2,987 | 384,345 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436055 | Zhou W | 2018 | 2,985 | 402,421 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90436059 | Zhou W | 2018 | 2,892 | 402,421 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477839 | Verma A | 2024 | 2,682 | 115,374 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480794 | Verma A | 2024 | 2,682 | 115,374 | 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 | 0 |
| Tier 4: intronic/intergenic | 1 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12513741 | 5 | 21869089 | T>C | 0.05 | intron_variant | CDH12 | 3e-07 | 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: 80.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 74 |
| PHASE4 | 5 |
| PHASE2 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03415555 | PHASE4 | COMPLETED | Postoperative Analgesia After Minithoracotomy |
| NCT03574311 | PHASE4 | UNKNOWN | Preoperative Intravenous Ferric Carboxymaltose and Placebo in the Treatment of Patients Undergoing Cardiac Surgery |
| NCT03592485 | PHASE4 | COMPLETED | ESP vs ESP With PECS |
| NCT04235569 | PHASE4 | COMPLETED | Warfarin Initiation in Mechanical Mitral Valve Replacement Patients |
| NCT05076604 | PHASE4 | COMPLETED | Effects of Microplegia on Transfusion Rates After Cardiac Surgery |
| NCT07027670 | PHASE2 | COMPLETED | Treatment With 5-AminoLEvuliNic Acid Before Cardiac Surgery |
| NCT02925819 | Not specified | RECRUITING | Management and Clinical Outcomes of Patients With Severe Mitral Valve Disease Not Suitable for Surgery |
| NCT03193801 | Not specified | ACTIVE_NOT_RECRUITING | PARTNER 3 Trial - Mitral Valve in Valve |
| NCT03339115 | Not specified | ACTIVE_NOT_RECRUITING | AHEAD: European Feasibility Study of the Cardiovalve Transfemoral Mitral Valve System |
| NCT03444259 | Not specified | ACTIVE_NOT_RECRUITING | Prospective Project to Identify Biomarkers of Morbidity and Mortality in Cardiovascular Interventional Patients |
| NCT04147884 | Not specified | ACTIVE_NOT_RECRUITING | A Feasibility Study of the Millipede Transcatheter Annuloplasty Ring System in Patients With Functional Mitral Regurgitation |
| NCT04190602 | Not specified | RECRUITING | Multicenter Post-Market Observational Registry of the NeoChord Artificial Chordae Delivery System |
| NCT04408430 | Not specified | RECRUITING | The MITRAL II Pivotal Trial (Mitral Implantation of TRAnscatheter vaLves). |
| NCT04688190 | Not specified | RECRUITING | CHoice of OptImal transCatheter trEatment for Mitral Insufficiency Registry |
| NCT04736667 | Not specified | RECRUITING | Mitral Valve Screening Survey |
| NCT04914468 | Not specified | RECRUITING | Hamburg TranscathEteR Mitral Valve REplacement RegiStry |
| NCT04916535 | Not specified | ACTIVE_NOT_RECRUITING | Prospective Multicenter Study on Mitral Annular Disjunction |
| NCT04954404 | Not specified | RECRUITING | Transcatheter Mitral Valve InterventiOn Single Center Registry in CHinese Patients With Mitral Valve Disease (TORCH-M) |
| NCT05871983 | Not specified | NOT_YET_RECRUITING | Munich Transcatheter Mitral Valve Safety and Effectiveness |
| NCT05961150 | Not specified | RECRUITING | PROMISE: Percutaneous peRipheral cannulatiOn for Minimally-InvaSive Heart Valve surgEry |
| NCT06001489 | Not specified | RECRUITING | The Effects of 360-degree Virtual Reality on Pre-procedural Anxiety in Patients Awaiting Elective Cardiac Surgery Involving a Sternotomy |
| NCT06025149 | Not specified | RECRUITING | The Study on the Use of UniLine Bioprosthesis in the Treatment of Isolated Aortic and Mitral Valve Diseases |
| NCT06113354 | Not specified | NOT_YET_RECRUITING | EXPLORE MRace: Early Feasibility Experience of Posterior Leaflet Restoration to Reduce Mitral Regurgitation Using the MRace Implant |
| NCT06153563 | Not specified | RECRUITING | Evaluation of the Elasticity of the Mitral Valve |
| NCT06167213 | Not specified | NOT_YET_RECRUITING | ALLIANCE Mitral: Safety and Effectiveness of SAPIEN X4 Transcatheter Heart Valve - Mitral |
| NCT06235385 | Not specified | RECRUITING | European Association of Cardiovascular Imaging Multiple and Mixed Valvular Disease Study |
| NCT06547788 | Not specified | NOT_YET_RECRUITING | LEFT ATRIAL MONITORING IN PATIENTS BEFORE AND AFTER MITRAL SURGERY - LAMBDA STUDY |
| NCT06557616 | Not specified | RECRUITING | Safety and Efficacy of the CoolCryo System for Cardiac Cryoablation in the Treatment of Atrial Fibrillation |
| NCT07069673 | Not specified | RECRUITING | Abbott Cephea Mitral Valve Disease Registry |
| NCT07097740 | Not specified | RECRUITING | Early Feasibility Study of Surgical Implantation of a Polymer Prosthetic Mitral and Aortic Valve |
| NCT07267117 | Not specified | RECRUITING | Cohort Observing Mechanisms, Progression and Sequelae of Valvular Heart Disease |
| NCT07612553 | Not specified | RECRUITING | MitrAl Valve Calcium aSsEssmEnt With TrueVue Trans-illumination 3D Rendering. |
| NCT00590889 | Not specified | TERMINATED | Artificial Valve Endocarditis Reduction Trial |
| NCT01281397 | Not specified | TERMINATED | Bleeding Prediction in Patients Following Cardiac Surgery Using Whole Blood Aggregometry and Thromboelastometry |
| NCT01646541 | Not specified | COMPLETED | Symptomatic Pulmonary Arterial Hypertension After Mitral Valve Surgery |
| NCT01849757 | Not specified | WITHDRAWN | Comparison of Priming Constituents in Patients Undergoing CPB Assisted Cardiac Surgery: HES 130/0.4 or Albumin 5% |
| NCT01987635 | Not specified | COMPLETED | Assessment of Sustained Systolic-to-diastolic Flexibility of the Mitral Valve Annulus With the Sorin MEMO 3D Mitral Anuloplasty Ring |
| NCT02000544 | Not specified | COMPLETED | Clinical Evaluation of a Modular Extracorporeal Circulation Circuit |
| NCT02097420 | Not specified | COMPLETED | HALO: A Single Arm Prospective Investigation of the SJM™ Masters HP™ 15mm Rotatable Mechanical Heart Valve |
| NCT02278835 | Not specified | COMPLETED | The Effectiveness of Respiratory Physiotherapy in Mitral Valve Surgery |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ACETAMINOPHEN | 4 | 3 |
| OXYCODONE | 4 | 2 |
| AMINOLEVULINIC ACID | 4 | 1 |
| ENOXAPARIN SODIUM | 4 | 1 |
| FERRIC CARBOXYMALTOSE | 4 | 1 |
| HEXACHLOROPHENE | 4 | 1 |
| HYDROXYETHYL STARCH 130/0.4 | 4 | 1 |
| WARFARIN | 4 | 1 |
| CHEMBL5592090 | 0 | 2 |
| ENOXAPARIN | 0 | 1 |