Tympanic membrane disorder
diseaseOn this page
Also known as disease of tympanic membranedisease or disorder of tympanic membranedisorder of tympanic membranetympanic membrane diseasetympanic membrane disease or disorder
Summary
Tympanic membrane disorder (MONDO:0003648) is a disease (an umbrella term covering 5 Mondo subtypes) with 3 GWAS associations across 11 studies and 1 clinical trial. A subtype of middle ear disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 3
- Clinical trials: 1
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | tympanic membrane disorder |
| Mondo ID | MONDO:0003648 |
| EFO | EFO:0009570 |
| DOID | DOID:5782 |
| SNOMED CT | 21426000 |
| UMLS | C0041825 |
| MedGen | 508258 |
| Anatomy (UBERON) | UBERON:0002364 |
| Is cancer (heuristic) | no |
Also known as: disease of tympanic membrane · disease or disorder of tympanic membrane · disorder of tympanic membrane · tympanic membrane disease · tympanic membrane disease or disorder
Data availability: 3 GWAS associations (11 studies).
Disease family
This is a subtype of middle ear 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 › auditory system disorder › middle ear disorder › tympanic membrane disorder
Related subtypes (5): necrosis of ear ossicle, eustachian tube disorder, otitis media, cholesteatoma of middle ear, neoplasm of middle ear
Subtypes (5): tympanosclerosis, atrophic nonflaccid tympanic membrane, myringitis bullosa hemorrhagica, atrophic flaccid tympanic membrane, tympanitis
Genetics & variants
GWAS landscape
3 GWAS associations across 11 studies. Top hits map to 4 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs190772274 | 3e-13 | LINC00513, LINC-PINT | G | 4.49 |
| rs756854 | 3e-11 | HDAC9 | C | 0.16 |
| rs993148308 | 4e-08 | CD48 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477808 | Verma A | 2024 | 3,465 | 444,234 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436039 | Zhou W | 2018 | 1,364 | 404,888 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90079940 | Backman JD | 2021 | 786 | 385,979 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083926 | Backman JD | 2021 | 786 | 385,979 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90473485 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 733 | 457,707 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90481950 | Verma A | 2024 | 498 | 58,941 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480108 | Verma A | 2024 | 429 | 120,905 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481951 | Verma A | 2024 | 429 | 120,905 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90043821 | Jiang L | 2021 | 203 | 456,145 | A generalized linear mixed model association tool for biobank-scale data. |
| GCST90651672 | Liu TY | 2025 | 182 | 227,473 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
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 | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs190772274 | 7 | 130871853 | G>A | 0 | intron_variant | LINC00513, LINC-PINT | 3e-13 | Tier 4: intronic/intergenic |
| rs756854 | 7 | 18863392 | C>T | 0.427 | intron_variant | HDAC9 | 3e-11 | Tier 4: intronic/intergenic |
| rs993148308 | 1 | 160693466 | C>T | 0.05 | intron_variant | CD48 | 4e-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: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06577051 | Not specified | COMPLETED | Evaluation of Eustachian Tube Function With 226 and 1000 Hz Probes in Children Undergoing Tonsillectomy ± Adenoidectomy |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.