Eustachian tube disorder

Summary

Eustachian tube disorder (MONDO:0004866) is a disease with 6 GWAS associations across 19 studies and 3 clinical trials. A subtype of middle ear disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	eustachian tube disorder
Mondo ID	MONDO:0004866
EFO	EFO:0009667
DOID	DOID:9739
ICD-10-CM	H68
SNOMED CT	69494008
UMLS	C0271468
MedGen	543364
Anatomy (UBERON)	UBERON:0002393
Is cancer (heuristic)	no

Also known as: disease of pharyngotympanic tube · disease or disorder of pharyngotympanic tube · disorder of pharyngotympanic tube · eustachian tube disorder · pharyngotympanic tube disease · pharyngotympanic tube disease or disorder

Data availability: 6 GWAS associations (19 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 › eustachian tube disorder

Related subtypes (5): necrosis of ear ossicle, tympanic membrane disorder, otitis media, cholesteatoma of middle ear, neoplasm of middle ear

Subtypes (2): patulous eustachian tube, otosalpingitis

Genetics & variants

GWAS landscape

6 GWAS associations across 19 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
rs11786766	3e-25	ANXA13	C	0.19
chr8:124712699	1e-21		C	0.1
rs78346270	4e-08	HNRNPA1P57 - LDHAP3	?
rs10438523	4e-07	SNRPEP3 - GP2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475902	Verma A	2024	23,981	394,451	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475904	Verma A	2024	6,918	433,043	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477797	Verma A	2024	5,320	107,947	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480106	Verma A	2024	5,320	107,947	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90652104	Liu TY	2025	4,399	227,473	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477796	Verma A	2024	3,020	52,179	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473481	UK Biobank Whole-Genome Sequencing Consortium	2025	2,549	455,891	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90473480	UK Biobank Whole-Genome Sequencing Consortium	2025	2,363	456,077	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90436031	Zhou W	2018	2,259	404,888	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651635	Liu TY	2025	1,610	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	4

MAF distribution

Bucket	Variants
common (>=0.05)	3
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	2
unknown	1
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11786766	8	123703961	C>T	0.222	intron_variant	ANXA13	3e-25	Tier 4: intronic/intergenic
chr8:124712699				0.351			1e-21	Tier 4: intronic/intergenic
rs78346270	2	41664441	T>C		intergenic_variant	HNRNPA1P57 - LDHAP3	4e-08	Tier 4: intronic/intergenic
rs10438523	16	20245058	G>A	0.05	intron_variant	SNRPEP3 - GP2	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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02123277	Not specified	COMPLETED	Long Term Evaluation of Tubal Expansion on Obstructive Dysfunctions of Eustachian Tube
NCT02282540	Not specified	COMPLETED	Novel Imaging of the Eustachian Tube; Patient Study
NCT02882022	Not specified	WITHDRAWN	Evaluating Changes in Middle Ear Pressure Caused by CPAP