Nasal disorder
diseaseOn this page
Also known as disease of nosedisease or disorder of nosedisorder of nosenose diseasenose disease or disorder
Summary
Nasal disorder (MONDO:0002436) is a disease (an umbrella term covering 5 Mondo subtypes) with 54 GWAS associations across 11 studies and 4 clinical trials. Top therapeutic interventions include dexmedetomidine and hydrochloric acid. 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: 5 Mondo subtypes
- GWAS associations: 54
- Clinical trials: 4
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | nasal disorder |
| Mondo ID | MONDO:0002436 |
| MeSH | D009668 |
| DOID | DOID:2825 |
| SNOMED CT | 89488007 |
| UMLS | C0028432 |
| MedGen | 10385 |
| Anatomy (UBERON) | UBERON:0000004 |
| Is cancer (heuristic) | no |
Also known as: disease of nose · disease or disorder of nose · disorder of nose · nose disease · nose disease or disorder
Data availability: 54 GWAS associations (11 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 › nasal disorder
Related subtypes (39): bifid nose, autoimmune disease of ear, nose and throat, 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, disorder of ear, lip and oral cavity squamous cell carcinoma
Subtypes (5): paranasal sinus disorder, nasal cavity disorder, nasal cavity and paranasal sinus lethal midline granuloma, anosmia, nasal dermoid cyst
Genetics & variants
GWAS landscape
54 GWAS associations across 11 studies. Top hits map to 14 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs2095044 | 2e-30 | RANBP6 - GTF3AP1 | C | 0.86 |
| rs6884870 | 1e-22 | WDR36 | G | 1.13 |
| 6p21.32 | 2e-19 | ? | 1.14 | |
| rs11690644 | 1e-16 | CFAP144P2 - IL1RL1 | G | 0.88 |
| rs10208293 | 4e-15 | IL1RL1, IL18R1 | A | 0.91 |
| rs1663680 | 7e-15 | LINC02676 - LINC00709 | C | 0.91 |
| rs56062135 | 7e-10 | SMAD3 | T | 1.08 |
| rs112880591 | 1e-09 | RPL6P5 - METAP2P1 | ? | 0.98 |
| rs16825450 | 2e-09 | RPL6P5 - METAP2P1 | G | 0.9 |
| rs9635726 | 2e-09 | IKZF3 | ? | 1.02 |
| rs10160518 | 3e-09 | EMSY - LINC02757 | G | 1.06 |
| rs1022434 | 3e-09 | NRXN3 | A | 1.13 |
| rs7936323 | 4e-09 | EMSY - LINC02757 | A | 1.06 |
| rs17293632 | 6e-09 | SMAD3 | ? | 1.01 |
| rs2701859 | 7e-09 | FOXO1 | C | 1.08 |
| rs4594881 | 8e-09 | SPEF2 - IL7R | T | 0.94 |
| rs12924112 | 9e-09 | CLEC16A | ? | 0.99 |
| rs11644510 | 1e-08 | CLEC16A - HNRNPCP4 | T | 0.93 |
| rs187769944 | 1e-08 | PGAM5P1 - TMEM232 | T | 1.21 |
| rs548656377 | 2e-08 | CLHC1 | ? | 9.69 |
| rs3816470 | 2e-08 | IKZF3 | G | 0.94 |
| rs74630264 | 2e-08 | NSMCE1-DT - IL4R | A | 0.89 |
| rs3758213 | 2e-08 | NEK6 | T | 0.94 |
| rs1107342 | 3e-08 | NEK6 | G | 1.06 |
| rs7737074 | 4e-08 | PJA2 - KRT18P42 | A | 0.94 |
| rs8064154 | 4e-08 | CLEC16A | T | 0.94 |
| rs1370525 | 5e-08 | RPL6P5 - METAP2P1 | C | 0.9 |
| rs28397663 | 5e-08 | FLJ40194 | T | 1.06 |
| rs79854286 | 3e-07 | COBL - CICP17 | ? | |
| rs338593 | 7e-07 | CYP2S1 | ? | 0.94 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90269786 | Saarentaus EC | 2023 | 25,235 | 199,208 | Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. |
| GCST90269784 | Saarentaus EC | 2023 | 19,901 | 199,208 | Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. |
| GCST90269780 | Saarentaus EC | 2023 | 7,716 | 199,208 | Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. |
| GCST90269791 | Saarentaus EC | 2023 | 7,716 | 199,208 | Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation. |
| GCST90038670 | Donertas HM | 2021 | 6,734 | 477,864 | Common genetic associations between age-related diseases. |
| GCST90652053 | Liu TY | 2025 | 5,160 | 185,643 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90080116 | Backman JD | 2021 | 3,165 | 383,525 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084102 | Backman JD | 2021 | 3,165 | 383,525 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90080115 | Backman JD | 2021 | 1,949 | 385,981 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084101 | Backman JD | 2021 | 1,949 | 385,981 | 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 | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 2 |
| Tier 4: intronic/intergenic | 32 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 30 |
| low_freq (0.01-0.05) | 1 |
| rare (<0.01) | 0 |
| unknown | 4 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 23 |
| intergenic_variant | 7 |
| unknown | 2 |
| regulatory_region_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs2095044 | 9 | 6192796 | T>A,C,G | 0.24 | intergenic_variant | RANBP6 - GTF3AP1 | 2e-30 | Tier 4: intronic/intergenic |
| rs6884870 | 5 | 111116386 | A>G | 0.304 | intron_variant | WDR36 | 1e-22 | Tier 4: intronic/intergenic |
| 6p21.32 | 2e-19 | Tier 4: intronic/intergenic | ||||||
| rs11690644 | 2 | 102297754 | A>G | 0.159 | intron_variant | CFAP144P2 - IL1RL1 | 1e-16 | Tier 4: intronic/intergenic |
| rs10208293 | 2 | 102349850 | G>A | 0.264 | intron_variant | IL1RL1, IL18R1 | 4e-15 | Tier 4: intronic/intergenic |
| rs1663680 | 10 | 9015282 | T>C | 0.302 | intron_variant | LINC02676 - LINC00709 | 7e-15 | Tier 4: intronic/intergenic |
| rs56062135 | 15 | 67163292 | C>T | 0.262 | intron_variant | SMAD3 | 7e-10 | Tier 4: intronic/intergenic |
| rs112880591 | 2 | 145803276 | G>A,C | 0.05 | intergenic_variant | RPL6P5 - METAP2P1 | 1e-09 | Tier 4: intronic/intergenic |
| rs16825450 | 2 | 145755293 | A>G,T | 0.103 | intron_variant | RPL6P5 - METAP2P1 | 2e-09 | Tier 4: intronic/intergenic |
| rs9635726 | 17 | 39863888 | C>A,G,T | 0.05 | intron_variant | IKZF3 | 2e-09 | Tier 4: intronic/intergenic |
| rs10160518 | 11 | 76585627 | A>G | 0.438 | intergenic_variant | EMSY - LINC02757 | 3e-09 | Tier 4: intronic/intergenic |
| rs1022434 | 14 | 79848307 | C>A | 0.071 | intron_variant | NRXN3 | 3e-09 | Tier 4: intronic/intergenic |
| rs7936323 | 11 | 76582714 | G>A | 0.415 | intergenic_variant | EMSY - LINC02757 | 4e-09 | Tier 4: intronic/intergenic |
| rs17293632 | 15 | 67150258 | C>A,T | 0.05 | intron_variant | SMAD3 | 6e-09 | Tier 4: intronic/intergenic |
| rs2701859 | 13 | 40567095 | T>A,C,G | 0.287 | intron_variant | FOXO1 | 7e-09 | Tier 4: intronic/intergenic |
| rs4594881 | 5 | 35846713 | G>T | 0.396 | intron_variant | SPEF2 - IL7R | 8e-09 | Tier 4: intronic/intergenic |
| rs12924112 | 16 | 11125863 | T>A,G | 0.05 | intron_variant | CLEC16A | 9e-09 | Tier 4: intronic/intergenic |
| rs11644510 | 16 | 11183501 | C>T | 0.336 | regulatory_region_variant | CLEC16A - HNRNPCP4 | 1e-08 | Tier 3: regulatory |
| rs187769944 | 5 | 110116253 | A>G,T | 0.023 | intergenic_variant | PGAM5P1 - TMEM232 | 1e-08 | Tier 4: intronic/intergenic |
| rs548656377 | 2 | 55220588 | C>G,T | intron_variant | CLHC1 | 2e-08 | Tier 4: intronic/intergenic | |
| rs3816470 | 17 | 39829548 | A>C,G | 0.432 | intron_variant | IKZF3 | 2e-08 | Tier 4: intronic/intergenic |
| rs74630264 | 16 | 27305654 | G>A,T | 0.081 | regulatory_region_variant | NSMCE1-DT - IL4R | 2e-08 | Tier 3: regulatory |
| rs3758213 | 9 | 124307465 | C>T | 0.382 | intron_variant | NEK6 | 2e-08 | Tier 4: intronic/intergenic |
| rs1107342 | 9 | 124311033 | T>A,C,G | 0.407 | intron_variant | NEK6 | 3e-08 | Tier 4: intronic/intergenic |
| rs7737074 | 5 | 109553994 | G>A,T | 0.372 | intron_variant | PJA2 - KRT18P42 | 4e-08 | Tier 4: intronic/intergenic |
| rs8064154 | 16 | 11125562 | A>G | 0.311 | intron_variant | CLEC16A | 4e-08 | Tier 4: intronic/intergenic |
| rs1370525 | 2 | 145811781 | T>C | 0.089 | intergenic_variant | RPL6P5 - METAP2P1 | 5e-08 | Tier 4: intronic/intergenic |
| rs28397663 | 17 | 49250821 | C>T | 0.426 | intron_variant | FLJ40194 | 5e-08 | Tier 4: intronic/intergenic |
| rs79854286 | 7 | 51350446 | C>G,T | 0.05 | intron_variant | COBL - CICP17 | 3e-07 | Tier 4: intronic/intergenic |
| rs338593 | 19 | 41198399 | T>C | 0.05 | intron_variant | CYP2S1 | 7e-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: 4.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02477293 | PHASE4 | COMPLETED | The Efficacy and Safety of Hyeonggaeyeongyo-tang for Chronic Rhinitis According to Pattern Identification in Korean Medicine |
| NCT07056582 | Not specified | RECRUITING | Pre-emptive Analgesia Using Nebulized Ketamine Versus Nebulized Dexmedetomidine in Endoscopic Nasal Surgeries |
| NCT02482896 | Not specified | UNKNOWN | The Lolland-Falster Health Study |
| NCT03222934 | Not specified | UNKNOWN | A Multislice Computed Tomographic Study of the Sphenoid Sinus |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| DEXMEDETOMIDINE | 4 | 1 |
| HYDROCHLORIC ACID | -1 | 1 |
Related Atlas pages
- Drugs: Dexmedetomidine