Disorder of ear
diseaseOn this page
Also known as disease of eardisease or disorder of earEar diseaseear disease or disorderEar disorder
Summary
Disorder of ear (MONDO:0021205) is a disease (an umbrella term covering 6 Mondo subtypes) with 10 GWAS associations across 17 studies and 20 clinical trials. Top therapeutic interventions include ciprofloxacin and ancrod. A subtype of otorhinolaryngologic disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 6 Mondo subtypes
- GWAS associations: 10
- Clinical trials: 20
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | disorder of ear |
| Mondo ID | MONDO:0021205 |
| NCIT | C26757 |
| SNOMED CT | 25906001 |
| UMLS | C0013447 |
| MedGen | 3946 |
| Anatomy (UBERON) | UBERON:0001690 |
| Is cancer (heuristic) | no |
Also known as: disease of ear · disease or disorder of ear · disorder of ear · Ear disease · ear disease · ear disease or disorder · Ear disorder
Data availability: 10 GWAS associations (17 studies).
Disease family
This is a subtype of otorhinolaryngologic 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 body system or component › otorhinolaryngologic disease › disorder of ear
Related subtypes (39): bifid nose, autoimmune disease of ear, nose and throat, nasal disorder, atresia of external auditory canal and conductive deafness, external auditory canal atresia-vertical talus-hypertelorism syndrome, laryngeal abductor paralysis, larynx atresia, congenital velopharyngeal incompetence, microtia, congenital tracheal stenosis, laryngeal neuroendocrine neoplasm, arrhinia, laryngotracheal angioma, epignathus, nasolacrimal duct cyst, polyrrhinia, supernumerary nostril, proboscis lateralis, nasal glial heterotopia, nasal ganglioglioma, nasal encephalocele, isolated congenital syngnathia, cysts and fistulae of the face and oral cavity, isolated congenital nasal pyriform aperture stenosis, congenital nasal pyriform aperture stenosis with holoprosencephaly, middle ear anomaly, idiopathic bilateral vestibulopathy, mal de Debarquement, juvenile nasopharyngeal angiofibroma, tracheal agenesis, semicircular canal dehiscence syndrome, hereditary otorhinolaryngologic disease, supratip dysplasia, recurrent respiratory papillomatosis, silent sinus syndrome, anotia, congenital tracheomalacia, disorder of pharynx, lip and oral cavity squamous cell carcinoma
Subtypes (6): inner ear disorder, external ear disorder, middle ear disorder, ear neoplasm, ear infection, hyperacusis
Genetics & variants
GWAS landscape
10 GWAS associations across 17 studies. Top hits map to 3 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs147577936 | 1e-11 | SCML4 | C | 2.48 |
| rs546517494 | 2e-11 | LINC02269 - LINC02268 | A | 1.59 |
| rs527493762 | 3e-11 | COL26A1 | C | 3 |
| rs193173314 | 3e-11 | LINC02755 | C | 4.04 |
| chr18:46557437 | 1e-10 | T | 0.15 | |
| chr10:89322 | 4e-09 | C | 2.28 | |
| chr15:54068601 | 2e-08 | A | 1.29 | |
| chr19:19272728 | 2e-08 | TGTGTGTGTGTGTGTGA | 2.22 | |
| chr2:239514834 | 3e-08 | A | 2.61 | |
| chrX:6626462 | 3e-08 | T | 1.08 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90473497 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 51,606 | 406,834 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667928 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 51,606 | 406,834 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90473505 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 17,698 | 440,742 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667845 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 17,698 | 440,742 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90038672 | Donertas HM | 2021 | 7,134 | 477,464 | Common genetic associations between age-related diseases. |
| GCST90079957 | Backman JD | 2021 | 4,651 | 369,518 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083943 | Backman JD | 2021 | 4,651 | 369,518 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90477820 | Verma A | 2024 | 2,572 | 439,777 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90726879 | Kim HI | 2026 | 2,053 | 41,973 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90473498 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 1,084 | 8,529 | Whole-genome sequencing of 490,640 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 | 10 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 4 |
| unknown | 6 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 6 |
| intron_variant | 3 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs147577936 | 6 | 107718157 | C>G | 0.003 | intron_variant | SCML4 | 1e-11 | Tier 4: intronic/intergenic |
| rs546517494 | 4 | 174009251 | A>T | 0.001 | intergenic_variant | LINC02269 - LINC02268 | 2e-11 | Tier 4: intronic/intergenic |
| rs527493762 | 7 | 101432749 | C>T | 0 | intron_variant | COL26A1 | 3e-11 | Tier 4: intronic/intergenic |
| rs193173314 | 11 | 29714997 | C>A,T | 0 | intron_variant | LINC02755 | 3e-11 | Tier 4: intronic/intergenic |
| chr18:46557437 | 1e-10 | Tier 4: intronic/intergenic | ||||||
| chr10:89322 | 4e-09 | Tier 4: intronic/intergenic | ||||||
| chr15:54068601 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr19:19272728 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr2:239514834 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chrX:6626462 | 3e-08 | 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: 20.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 15 |
| PHASE1/PHASE2 | 3 |
| PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06370351 | PHASE1/PHASE2 | RECRUITING | A Phase I/II Clinical Trial with SENS-501 in Children Suffering from Severe to Profound Hearing Loss Due to Otoferlin (OTOF) Mutations |
| NCT00872209 | PHASE1/PHASE2 | COMPLETED | Safety and Efficacy Study of Foam Otic Cipro Compared to a Standard Solution ( Ciloxan - Alcon Labs ) to Treat Acute Otitis Externa |
| NCT01157819 | PHASE2 | COMPLETED | Safety and Efficacy of Once-Daily Dosing of FoamOtic Cipro Compared to Twice-Daily Dosing of Ciloxan Ear Drops in Patients With Acute External Otitis |
| NCT01359098 | PHASE2 | COMPLETED | Efficacy and Safety of Once-Daily Ciprodexa Otic Foam Compared to Twice-daily Ciprodex Ear Drops in Acute Otitis Externa |
| NCT01621256 | PHASE1/PHASE2 | COMPLETED | Efficacy, Safety, and Tolerability of Ancrod in Patients With Sudden Hearing Loss |
| NCT05859568 | Not specified | ENROLLING_BY_INVITATION | Baseline Performance and Fitting Parameters for Sonova Products |
| NCT06051968 | Not specified | ACTIVE_NOT_RECRUITING | Effects of an Online Hearing Support for First-time Hearing Aid Users |
| NCT01483937 | Not specified | COMPLETED | Evaluation of a Sensory Enrichment Multimodal Device (SEMD) on Physical Therapy Patients With Disequilibrium |
| NCT01738490 | Not specified | COMPLETED | Long-term Stability and Survival Rates of a Novel Oticon Medical Bone Conduction Device Implant |
| NCT01959152 | Not specified | TERMINATED | Evaluation of Hearing Preservation in Adults With Partial Low-Frequency Hearing Implanted With the HiFocus™ Mid-Scala Electrode |
| NCT02189798 | Not specified | TERMINATED | Implantation of the HiRes90K™ Advantage Cochlear Implant With HiFocus™ Mid-Scala and Development of a Combined Electric and Acoustic Stimulation Technology in Adults With Partial Deafness |
| NCT02482896 | Not specified | UNKNOWN | The Lolland-Falster Health Study |
| NCT02811549 | Not specified | COMPLETED | Benefits of the HiResolution Bionic Ear System in Adults With Asymmetric Hearing Loss |
| NCT02896764 | Not specified | COMPLETED | Interest of the Cone-beam Computed Tomography in the Imagery of the Middle Ear |
| NCT04237207 | Not specified | COMPLETED | Clinical Evaluation of a Cochlear Implant Sound Processor |
| NCT04803279 | Not specified | COMPLETED | Investigating Hearing With Ponto 3 SuperPower, a Bone Anchored Hearing Aid - Investigating Hear |
| NCT04804098 | Not specified | UNKNOWN | Effect of Rate (Slope) of Compression on the Incidence of Symptomatic ETD and MEB: a Phase III Prospective Study. |
| NCT05034731 | Not specified | COMPLETED | Evaluation of Remote Fitting in Adult and Pediatric Users of the HiResolution Bionic Ear System |
| NCT05086809 | Not specified | COMPLETED | Investigation of an Updated Bone-anchored Sound Processor |
| NCT05467059 | Not specified | COMPLETED | Evaluation of Potential Causes of Nap Modulated Tinnitus |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CIPROFLOXACIN | 4 | 3 |
| ANCROD | 3 | 1 |
Related Atlas pages
- Drugs: Ciprofloxacin, Ancrod