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ORPHA:244

Primary ciliary dyskinesia

medium confidenceDisorder

Also known as: PCD

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

8,590

97.6th percentile

Trials

23

Interventional, condition-specific

Researchers

1,232

Distinct authors in sample

Gene link

AK7, AKNA, BRWD1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of the patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

Kartagener syndrome · Kartagener's syndrome

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.”

3/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — AK7, AKNA, BRWD1, CFAP221, CFAP43…

  2. LiteraturePresent

    8,590 matched papers (5,203 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    23 matched on ClinicalTrials.gov (10 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?

Yes — we know a specific gene responsible (AK7, AKNA, BRWD1…).

GenCC classification: Definitive.

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?

8,590

8,590 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=5449) is 41.

8,590 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).

5,203 in the last 10 years · medium confidence · 97.6th percentile (publications denominator)

Phrase hits: 8,590 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,232

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
    Gatt D5 papers · 2026

    Pediatric Pulmonology Unit, Saban Children's Hospital, Soroka University Medical Center, Beer Sheva, Israel.

    Papers in Europe PMC
  2. 02
    Goutaki M5 papers · 2026

    Institute of Social and Preventive Medicine, , ,

    Papers in Europe PMC
  3. 03
    Keicho N5 papers · 2026

    The Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Tokyo, Japan.

    Papers in Europe PMC
  4. 04
    Liu Y5 papers · 2026

    Department of Respiratory and Critical Care Medicine, Tongji Hospital, School of Medicine, Tongji University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Lucas JS5 papers · 2026

    School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK.

    Papers in Europe PMC
  6. 06
    Morimoto K5 papers · 2026

    Respiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Shapiro AJ5 papers · 2026

    Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.

    Papers in Europe PMC
  8. 08
    Davis SD4 papers · 2026

    Department of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA.

    Papers in Europe PMC
  9. 09
    Dell SD4 papers · 2026

    Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada.

    Papers in Europe PMC
  10. 10
    Emiralioglu N4 papers · 2026

    Faculty of Medicine, Department of Pediatric Pulmonology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

23

interventional trials for this specific condition

23 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 27 July 2026

23 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 94.9th percentile).

medium confidence · 94.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

51 observational studies match 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

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 2026-07-26

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.

"Primary ciliary dyskinesia" OR "Kartagener syndrome" OR "Kartagener's syndrome"

Run this search on Europe PMC

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

"Primary ciliary dyskinesia" OR "Kartagener syndrome" OR "Kartagener's syndrome" OR "AK7" OR "AKNA" OR "BRWD1" OR "CFAP221" OR "CFAP43" OR "CFAP46" OR "CFAP57" OR "DAW1" OR "DNAH1" OR "DNAH10" OR "DNAH14" OR "DNAH6" OR "DNAH7" OR "DNAH8" OR "GOLGA3" OR "MNS1" OR "NME8" OR "SPEF2" OR "TEKT1"

Recall-expansion terms: AK7, AKNA, BRWD1, CFAP221, CFAP43, CFAP46, CFAP57, DAW1, DNAH1, DNAH10, DNAH14, DNAH6, DNAH7, DNAH8, GOLGA3, MNS1, NME8, SPEF2, TEKT1

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

Study-type breakdown: 23 interventional · 51 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PCD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Kartagener syndrome" also appears on ORPHA:98861

Ingested 2026-07-26T13:04:09.079Z