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ORPHA:122

Birt-Hogg-Dubé syndrome

high confidenceDisorder

Also known as: Hornstein-Knickenberg syndrome

Publications

4,237

92.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,105

Distinct authors in sample

Gene link

FLCN

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FLCN

  2. LiteraturePresent

    4,237 matched papers (3,097 in last 10 years) Source

  3. Phenotype characterisedPresent

    34 HPO annotations (e.g. Multiple pulmonary cysts; Sebaceous hyperplasia; Trichodiscoma) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus, 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

    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)

34

Associated phenotypes · MONDO:0800445

  • Multiple pulmonary cysts
  • Sebaceous hyperplasia
  • Trichodiscoma
  • Renal cyst
  • Spontaneous pneumothorax

Showing 5 of 34 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

4,237

4,237 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=3967) is 59.

4,237 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).

3,097 in the last 10 years · high confidence · 92.3th percentile (publications denominator)

Phrase hits: 2,400 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,105

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 N7 papers · 2026

    Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

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

    Department of genetics, Bichat Hospital (APHP), Reference Laboratory for the diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, Paris, France.

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

    Department of genetics, Bichat Hospital (APHP), Reference Laboratory for the diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, Paris, France; INSERM U1149, Centre de Recherche sur l'Inflammation, University Paris Cite, Paris, France. Electronic address: agathe.hercent@aphp.fr.

    Papers in Europe PMC
  4. 04
    Houweling AC5 papers · 2025

    Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  5. 05
    Hu X5 papers · 2026

    Department of Respiratory and Critical Care Medicine, Chengdu Second People's Hospital, Sichuan University, Chengdu, China.

    Papers in Europe PMC
  6. 06
    Linehan WM5 papers · 2026

    Urologic Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Ryu JH5 papers · 2026

    Mayo Clinic, Rochester, Minnesota, USA.

    Papers in Europe PMC
  8. 08
    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
  9. 09
    Erickson LA4 papers · 2026

    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: erickson.lori@mayo.edu.

    Papers in Europe PMC
  10. 10
    Fostier W4 papers · 2026

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

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Birt-Hogg-Dubé syndrome — 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.

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

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"

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 · 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 2026-07-26T12:30:28.100Z