Paranasal sinus disorder

Summary

Paranasal sinus disorder (MONDO:0001735) is a disease (an umbrella term covering 7 Mondo subtypes) with 4 GWAS associations across 13 studies and 5 clinical trials. Top therapeutic interventions include bacitracin and dupilumab. A subtype of nasal 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: 4
• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	paranasal sinus disorder
Mondo ID	MONDO:0001735
EFO	EFO:0009481
MeSH	D010254
DOID	DOID:1352
NCIT	C26843
SNOMED CT	7393007
UMLS	C0030469
MedGen	14608
Anatomy (UBERON)	UBERON:0001825
Is cancer (heuristic)	no

Also known as: disease of paranasal sinus · disease or disorder of paranasal sinus · disorder of paranasal sinus · paranasal sinus disease · paranasal sinus disease or disorder · paranasal sinus disorder · sinus disorder

Data availability: 4 GWAS associations (13 studies).

Disease family

This is a subtype of nasal 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 › otorhinolaryngologic disease › nasal disorder › paranasal sinus disorder

Related subtypes (4): nasal cavity disorder, nasal cavity and paranasal sinus lethal midline granuloma, anosmia, nasal dermoid cyst

Subtypes (7): paranasal sinus neoplasm, sinusitis, maxillary sinus cholesteatoma, polyp of sphenoidal sinus, polyp of frontal sinus, polyp of maxillary sinus, polyp of ethmoidal sinus

Genetics & variants

GWAS landscape

4 GWAS associations across 13 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
chr4:107396699	1e-08		C	1.96
chr15:77975553	3e-08		G	2.3
chrX:6887158	3e-08		ATTTATAATTAAATATATTTATTTATAATTAAATAT	2.11
chr6:106115397	5e-08		A	0.07

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473691	UK Biobank Whole-Genome Sequencing Consortium	2025	17,087	441,353	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667778	UK Biobank Whole-Genome Sequencing Consortium	2025	17,087	441,353	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90080117	Backman JD	2021	8,558	373,094	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084103	Backman JD	2021	8,558	373,094	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90038670	Donertas HM	2021	6,734	477,864	Common genetic associations between age-related diseases.
GCST90726953	Kim HI	2026	4,905	39,121	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90077832	Backman JD	2021	1,740	330,014	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081818	Backman JD	2021	1,740	330,014	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90077833	Backman JD	2021	1,548	327,504	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90081819	Backman JD	2021	1,548	327,504	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	4

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	4

Functional consequences

Consequence	Count
unknown	4

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr4:107396699							1e-08	Tier 4: intronic/intergenic
chr15:77975553							3e-08	Tier 4: intronic/intergenic
chrX:6887158							3e-08	Tier 4: intronic/intergenic
chr6:106115397							5e-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

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bacitracin.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	2
Not specified	2
PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04678856	PHASE3	COMPLETED	Dupilumab in CRSsNP
NCT01222832	PHASE2	COMPLETED	Effectiveness of Antibiotic Delivery Via Bio-absorbable Sponge
NCT01814618	PHASE2	WITHDRAWN	Trial of Directed High-dose Nasal Steroids on Residual Smell Loss in Sinus Patients After Sinus Surgery
NCT02591524	Not specified	UNKNOWN	Upper and Lower Airway Colonization in Cystic Fibrosis Patients After Lung Transplantation
NCT04968561	Not specified	UNKNOWN	Design of an Augmented Reality System by Integration of CT Scan or MRI Data With Endoscopic Images for Video-assisted Endonasal Endoscopic Surgery

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BACITRACIN	4	1
DUPILUMAB	4	1
CHEMBL3764363	0	1
CHEMBL4096945	0	1
CHEMBL4209556	0	1
CHEMBL4303306	0	1