Voice disorders
diseaseOn this page
Also known as neurologic voice disordervoice disorder
Summary
Voice disorders (MONDO:0043862) is a disease with 1 GWAS associations across 12 studies and 44 clinical trials. Top therapeutic interventions include dextromethorphan, daxibotulinumtoxina, and hyaluronic acid. A subtype of laryngeal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 1
- Clinical trials: 44
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | voice disorders |
| Mondo ID | MONDO:0043862 |
| EFO | EFO:0009692 |
| MeSH | D014832 |
| NCIT | C3441 |
| SNOMED CT | 71941009 |
| UMLS | C0042940 |
| MedGen | 12120 |
| Is cancer (heuristic) | no |
Also known as: neurologic voice disorder · voice disorder
Data availability: 1 GWAS association (12 studies).
Disease family
This is a subtype of laryngeal 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 › respiratory system disorder › upper respiratory tract disorder › laryngeal disorder › voice disorders
Related subtypes (19): spasmodic dystonia, laryngostenosis, laryngitis, laryngeal abductor paralysis, congenital laryngomalacia, larynx atresia, congenital laryngeal web, H syndrome, primary laryngeal lymphangioma, congenital laryngeal palsy, congenital subglottic stenosis, congenital laryngeal cyst, laryngocele, laryngeal diphtheria, laryngeal granuloma, laryngeal neoplasm, polyp of vocal cord, acquired laryngomalacia, idiopathic subglottic stenosis
Genetics & variants
GWAS landscape
1 GWAS associations across 12 studies. Top hits map to 0 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs185148210 | 4e-07 | OR4A44P - ANKRD33BP2 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478094 | Verma A | 2024 | 15,502 | 424,635 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478093 | Verma A | 2024 | 4,052 | 115,098 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481083 | Verma A | 2024 | 4,052 | 115,098 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080867 | Backman JD | 2021 | 2,270 | 381,451 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084853 | Backman JD | 2021 | 2,270 | 381,451 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90478092 | Verma A | 2024 | 1,539 | 57,324 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90080865 | Backman JD | 2021 | 1,188 | 385,932 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084851 | Backman JD | 2021 | 1,188 | 385,932 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90080866 | Backman JD | 2021 | 1,104 | 383,346 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084852 | Backman JD | 2021 | 1,104 | 383,346 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
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 |
|---|---|
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs185148210 | 11 | 48632311 | A>G,T | 0.05 | intergenic_variant | OR4A44P - ANKRD33BP2 | 4e-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: 44.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 38 |
| EARLY_PHASE1 | 2 |
| PHASE4 | 1 |
| PHASE2 | 1 |
| PHASE1/PHASE2 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00235053 | PHASE4 | COMPLETED | Study to Assess the Incidence of Local Oropharyngeal and Laryngeal Adverse Effects of Advair DISKUS 250/50 mcg BID |
| NCT04525066 | PHASE2 | COMPLETED | Phonosurgical Augmentation After Laser Resection of Early Glottic Carcinoma |
| NCT05158166 | PHASE1/PHASE2 | COMPLETED | DaxibotulinumtoxinA Injection for Treatment of Adductor Spasmodic Dysphonia |
| NCT00055549 | PHASE1 | COMPLETED | Dextromethorphan to Treat Patients With Voice Spasms |
| NCT05970562 | EARLY_PHASE1 | RECRUITING | Project 4: Ambulatory Biofeedback and Voice Therapy for Patients With Vocal Hyperfunction |
| NCT01435837 | EARLY_PHASE1 | COMPLETED | Interaction of Caffeine and Hydration on Voice |
| NCT05220982 | Not specified | RECRUITING | Improving Efficacy of Voice Therapy Concepts Via Telepractice and Mobile App Technology |
| NCT05348031 | Not specified | NOT_YET_RECRUITING | Multimodal Analysis of Structural Voice Disorders Based on Speech and Stroboscopic Laryngoscope Video |
| NCT05357222 | Not specified | ACTIVE_NOT_RECRUITING | Straw Phonation Exercise Program for Pitch Extension |
| NCT06126627 | Not specified | RECRUITING | Brain and Voice Signatures in Teachers |
| NCT06473428 | Not specified | NOT_YET_RECRUITING | Investigating Muscle Training’s Respiratory Outcomes and Voice Enhancement in Parkinson’s Disease |
| NCT06524193 | Not specified | RECRUITING | RCT Face-to-face Group Voice Therapy vs Telepractice Group Voice Therapy for Muscle Tension Dysphonia |
| NCT06934265 | Not specified | NOT_YET_RECRUITING | PhoRTE® Therapy Efficacy: In-Person Versus Telehealth |
| NCT07176013 | Not specified | ENROLLING_BY_INVITATION | Immersive Virtual Reality Meditation in Voice Therapy |
| NCT07371351 | Not specified | NOT_YET_RECRUITING | Effects of EMST and Triflo on Voice Parameters and Vocal Fatigue |
| NCT00001308 | Not specified | TERMINATED | Central Mechanisms in Speech Motor Control Studied With H215O PET |
| NCT00001552 | Not specified | COMPLETED | Characteristics of Idiopathic Familial Voice Disorders |
| NCT00001922 | Not specified | COMPLETED | Sensory Function in Idiopathic Voice Disorders |
| NCT00066911 | Not specified | COMPLETED | Brain Mapping of Voice Control |
| NCT00118586 | Not specified | COMPLETED | Neuropathology of Spasmodic Dysphonia |
| NCT00237679 | Not specified | TERMINATED | Quantifying Effects of Treatment of Pediatric Dysphonia |
| NCT00961818 | Not specified | COMPLETED | Immediate Effect Analysis of Vocal Techniques |
| NCT01131494 | Not specified | COMPLETED | Swallowing Training in Parkinson’s Disease |
| NCT01196611 | Not specified | COMPLETED | Effectiveness of Two Therapeutic Approaches in Female Teachers With Voice Disorders |
| NCT01199172 | Not specified | COMPLETED | Prevention and Treatment of Voice Problems in Teachers |
| NCT01625728 | Not specified | COMPLETED | Vocal Demands Among Classroom Teachers |
| NCT02102399 | Not specified | COMPLETED | Vocal Warm-up and Respiratory Muscle Training |
| NCT02441348 | Not specified | COMPLETED | Efficacy of Conversation Training Therapy (CTT) |
| NCT03076931 | Not specified | TERMINATED | Development of Imaging Biomarkers for Voice After Pediatric Airway Reconstruction |
| NCT03576365 | Not specified | COMPLETED | Dysphonia, Distress, and Perceived Control: Technology Based Assessment and Intervention |
| NCT03696576 | Not specified | TERMINATED | Expiratory Muscle Strength Training and Phonation Resistance Training Exercises For Elderly Patients With Vocal Fold Atrophy |
| NCT04002336 | Not specified | COMPLETED | Testing a Smart Phone App to Enhance Voice Therapy Adherence |
| NCT04096352 | Not specified | COMPLETED | Virtual Reality in Teachers’ Vocal Motor Behavior Acquisition (VirtuVox) |
| NCT04513392 | Not specified | UNKNOWN | Comparison of BL and KTP Laser for Treatment of Benign Vocal Fold Lesions |
| NCT04584658 | Not specified | COMPLETED | Dysphagia and Dysphonia Outcomes in SARS CoV-2 (COVID-19) Infection (DYADS Study) |
| NCT04766658 | Not specified | COMPLETED | A Study to Evaluate Effects of Gargle Phonation in Voice |
| NCT04846413 | Not specified | UNKNOWN | Voice Analysis in Patients With Neurologic Diseases |
| NCT04853680 | Not specified | UNKNOWN | Effect of Anti-adhesion Barrier on the Voice Quality After Thyroidectomy. |
| NCT04966689 | Not specified | COMPLETED | The Effect of Combined Speech and Music-therapy on the Speech Characteristics of People With Parkinson’s Disease (PD) |
| NCT05158179 | Not specified | COMPLETED | Assessment of Laryngopharyngeal Sensation in Adductor Spasmodic Dysphonia |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DEXTROMETHORPHAN | 4 | 3 |
| DAXIBOTULINUMTOXINA | 4 | 1 |
| HYALURONIC ACID | 4 | 1 |
| LORAZEPAM | 4 | 1 |
| FLUTICASONE | 3 | 1 |