ORPHA:3346
Tracheal agenesis
Also known as: Tracheal atresia
Publications
755
88.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,239
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare characterized by either completely absent (agenesis), or severely underdeveloped (atresia) trachea. In both cases, the tracheal lumen is absent for at least a portion of its length, with no proximal-distal communication between the larynx and lower airways. Functionally and in terms of management, tracheal agenesis and tracheal atresia are equivalent.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018058
- MeSH:C536975
- UMLS:C1261567
- NCIT:C35376
Additional Mondo synonyms (2)
congenital absence of trachea · tracheal absence
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
755 matched papers (423 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
755
755 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
755 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
423 in the last 10 years · high confidence · 88.7th percentile (publications denominator)
Phrase hits: 755 · MeSH hits: 0
Who's working on it?
1,239
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Wang J5 papers · 2026
State Key Laboratory of Respiratory Disease & National Clinical Research Center for Respiratory Disease & National Center for Respiratory Medicine &, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510120, China.
Papers in Europe PMC - 02Zhang J4 papers · 2026
Department of Respiratory and Critical Care Medicine, The Second Hospital of Jilin University, Changchun, Jilin, People's Republic of China.
Papers in Europe PMC - 03Clark JB3 papers · 2023
Division of Pediatric Cardiac Surgery, Penn State Health Children's Hospital, Hershey, Pa.
Papers in Europe PMC - 04Li X3 papers · 2023
Department of Ultrasound, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Papers in Europe PMC - 05Mall MA3 papers · 2026
Department of Translational Pulmonology, Translational Lung Research Centre Heidelberg, German Center for Lung Research, University of Heidelberg, Heidelberg, Germany.
Papers in Europe PMC - 06Pastore D3 papers · 2026
Department of Health Sciences, University "Magna Græcia" of Catanzaro, Catanzaro, Italy.
Papers in Europe PMC - 07Pelaia C3 papers · 2026
Department of Medical and Surgical Sciences, University "Magna Græcia" of Catanzaro, Catanzaro, Italy.
Papers in Europe PMC - 08Pelaia G3 papers · 2026
Department of Health Sciences, University "Magna Græcia" of Catanzaro, Catanzaro, Italy.
Papers in Europe PMC - 09Zhang H3 papers · 2026
Division of Epidemiology, Biostatistics, and Environmental Health Sciences, School of Public Health, University of Memphis, Memphis, Tennessee, USA.
Papers in Europe PMC - 10Zhang M3 papers · 2026
Department of Respiratory and Critical Care Medicine, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710004, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Tracheal agenesis" OR "Tracheal atresia" OR "congenital absence of trachea" OR "congenital absence of the trachea" OR "tracheal absence"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tracheal agenesis" OR "Tracheal atresia" OR "congenital absence of trachea" OR "congenital absence of the trachea" OR "tracheal absence"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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 2026-07-26T22:56:40.627Z