RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:137914

Choanal atresia

high confidenceDisorder

Publications

5,723

92.1th percentile

Trials

2

Interventional, condition-specific

Researchers

1,087

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Choanal atresia (CA) is a anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

atresia of nares

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    5,723 matched papers (2,933 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Nasal congestion; Chronic sinusitis; Subglottic stenosis) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0012155

  • Nasal congestion
  • Chronic sinusitis
  • Subglottic stenosis
  • Inappropriate crying
  • Choking episodes

Showing 5 of 16 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

4 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Carbimazole · marker/mechanism
  • Methimazole · marker/mechanism
  • Sulfonamides · marker/mechanism
  • Thalidomide · marker/mechanism

MyDisease.info · MONDO:0012155

Literature

Is anyone studying this?

5,723

5,723 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,723 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,933 in the last 10 years · high confidence · 92.1th percentile (publications denominator)

Phrase hits: 5,723 · MeSH hits: 133

Open Europe PMC search

Who's working on it?

1,087

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Baumann I6 papers · 2026

    Hals-, Nasen- und Ohrenklinik, Universitätsklinikum Heidelberg.

    Papers in Europe PMC
  2. 02
    Blake K5 papers · 2026

    Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

    Papers in Europe PMC
  3. 03
    Schuler PJ4 papers · 2026

    Department of Otorhinolaryngology, University Hospital Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  4. 04
    Yılmaz Topçuoğlu MS4 papers · 2026

    Department of Otorhinolaryngology, University Hospital Heidelberg, Heidelberg, Germany. Electronic address: miray-su.yilmaztopcuoglu@med.uni-heidelberg.de.

    Papers in Europe PMC
  5. 05
    Zhang Y4 papers · 2026

    Multi-Omics Center, MGI Tech, Shenzhen 518083, China.

    Papers in Europe PMC
  6. 06
    Huang Z3 papers · 2025

    Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  7. 07
    Westhoff JH3 papers · 2026

    Department I, Center for Pediatric and Adolescent Medicine, Medical Faculty Heidelberg, Heidelberg University, University Hospital Heidelberg, Heidelberg, Germany.

    Papers in Europe PMC
  8. 08
    Wu J3 papers · 2026

    Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  9. 09
    Aguirre Balseca M2 papers · 2026

    Department of Health Sciences, University of the Hemispheres, Quito, Ecuador.

    Papers in Europe PMC
  10. 10
    Arra A2 papers · 2026

    IWK Health, Halifax, Nova Scotia, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

high confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (2)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Choanal atresia — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Choanal atresia" OR "atresia of nares" OR "atresia of the nares"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Choanal Atresia

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Choanal atresia" OR "atresia of nares" OR "atresia of the nares"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T07:32:21.652Z