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ORPHA:122

Birt-Hogg-Dubé syndrome

high confidenceDisorder

Also known as: Hornstein-Knickenberg syndrome

Publications

2,400

94.7th percentile

Trials

1

Interventional, condition-specific

Researchers

1,066

Distinct authors in sample

Gene link

FLCN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

fibrofolliculomas with trichodiscomas and acrochordons

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 — FLCN

  2. LiteraturePresent

    2,400 matched papers (1,571 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

    1 matched on ClinicalTrials.gov

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 (FLCN).

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?

2,400

2,400 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.

2,400 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).

1,571 in the last 10 years · high confidence · 94.7th percentile (publications denominator)

Phrase hits: 2,400 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,066

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
    Rajan N6 papers · 2026

    Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  2. 02
    Tchernitchko D6 papers · 2026

    Department of Genetics, Bichat Hospital (Assistance Publique Hopitaux de Paris), Reference Laboratory for the Diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, 46 Rue Henri Huchard, 75018 Paris, France.

    Papers in Europe PMC
  3. 03
    Hercent A5 papers · 2026

    Department of Genetics, Bichat Hospital (Assistance Publique Hopitaux de Paris), Reference Laboratory for the Diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, 46 Rue Henri Huchard, 75018 Paris, France.

    Papers in Europe PMC
  4. 04
    Hu X5 papers · 2026

    Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China. hu.xiaowen@ustc.edu.cn.

    Papers in Europe PMC
  5. 05
    Chen X4 papers · 2026

    Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China.

    Papers in Europe PMC
  6. 06
    Fostier W4 papers · 2026

    Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.

    Papers in Europe PMC
  7. 07
    Gupta N4 papers · 2026

    Division of Pulmonary, Critical Care and Sleep Medicine; Department of Internal Medicine; University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

    Papers in Europe PMC
  8. 08
    Linehan WM4 papers · 2026

    National Cancer Institute, Bethesda, USA. linehanm@mail.nih.gov.

    Papers in Europe PMC
  9. 09
    Ryu JH4 papers · 2026

    Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  10. 10
    Wang R4 papers · 2026

    Department of Pulmonary and Critical Care Medicine, the First Affiliated Hospital of USTC, University of Science and Technology of China, Hefei, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 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.

"Birt-Hogg-Dubé syndrome" OR "Hornstein-Knickenberg syndrome" OR "fibrofolliculomas with trichodiscomas and acrochordons"

Run this search on Europe PMC

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

"Birt-Hogg-Dubé syndrome" OR "Hornstein-Knickenberg syndrome" OR "fibrofolliculomas with trichodiscomas and acrochordons" OR "FLCN"

Recall-expansion terms: FLCN

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

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

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 2026-07-26T12:30:28.100Z