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ORPHA:523

Hereditary leiomyomatosis and renal cell cancer

low confidenceDisorder

Also known as: Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri · Familial leiomyomatosis with renal carcinoma · Familial multiple cutaneous leiomyomas · HLRCC · Hereditary leiomyomatosis · Hereditary leiomyomatosis with renal carcinoma · Hereditary multiple cutaneous leiomyomas · MCUL · Multiple cutaneous and uterine leiomyomas · Reed syndrome

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

Publications

1,940

Trials

7

Interventional, condition-specific

Researchers

1,171

Distinct authors in sample

Gene link

FH

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

leiomyomatosis and renal cell cancer (HLRCC) is a cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (14)

Hereditary Leiomyomatosis and Renal Cell Carcinoma · familial leiomyomatosis · familial leiomyomatosis and renal cell cancer · familial leiomyomatosis cutis et uteri · familial leiomyomatosis with renal carcinoma · familial multiple cutaneous leiomyomas · hereditary leiomyomatosis · hereditary leiomyomatosis and renal cell cancer · hereditary leiomyomatosis and renal cell cancer syndrome · hereditary leiomyomatosis and renal cell carcinoma · hereditary leiomyomatosis with renal carcinoma · hereditary multiple cutaneous leiomyomas · leiomyomatosis and renal cell cancer · multiple cutaneous and uterine leiomyomas

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 — FH

  2. LiteraturePresent

    1,940 matched papers (1,341 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

    7 matched on ClinicalTrials.gov (3 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 (FH).

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?

1,940

1,940 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.

1,940 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).

1,341 in the last 10 years · low confidence

Phrase hits: 1,940 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,171

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
    Linehan WM12 papers · 2026

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Ball MW11 papers · 2026

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: mark.ball@nih.gov.

    Papers in Europe PMC
  3. 03
    Foulkes WD10 papers · 2026

    Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada.

    Papers in Europe PMC
  4. 04
    Netchiporouk E9 papers · 2026

    Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada.

    Papers in Europe PMC
  5. 05
    Udupa M8 papers · 2026

    Faculty of Medicine and Health Sciences, McGill University, Montréal, Québec, Canada.

    Papers in Europe PMC
  6. 06
    Ouchene L7 papers · 2026

    Division of Experimental Medicine, Department of Medicine, McGill University, Montréal, Quebec, Canada.

    Papers in Europe PMC
  7. 07
    Kaouache M6 papers · 2026

    Department of Mathematics and General Sciences, Prince Sultan University, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  8. 08
    Zhang H6 papers · 2026

    Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  9. 09
    Blachman-Braun R5 papers · 2026

    Urologic Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  10. 10
    Brimo F5 papers · 2026

    Department of Pathology, McGill University, Montreal, Québec, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

7 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 89.9th percentile).

low confidence · 89.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

3 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.

"Hereditary leiomyomatosis and renal cell cancer" OR "Familial leiomyomatosis and renal cell cancer" OR "Familial leiomyomatosis cutis et uteri" OR "Familial leiomyomatosis with renal carcinoma" OR "Familial multiple cutaneous leiomyomas" OR "HLRCC" OR "Hereditary leiomyomatosis" OR "Hereditary leiomyomatosis with renal carcinoma" OR "Hereditary multiple cutaneous leiomyomas" OR "Multiple cutaneous and uterine leiomyomas" OR "Reed syndrome" OR "Hereditary Leiomyomatosis and Renal Cell Carcinoma" OR "familial leiomyomatosis" OR "hereditary leiomyomatosis and renal cell cancer syndrome" OR "leiomyomatosis and renal cell cancer"

Run this search on Europe PMC

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

"Hereditary leiomyomatosis and renal cell cancer" OR "Familial leiomyomatosis and renal cell cancer" OR "Familial leiomyomatosis cutis et uteri" OR "Familial leiomyomatosis with renal carcinoma" OR "Familial multiple cutaneous leiomyomas" OR "HLRCC" OR "Hereditary leiomyomatosis" OR "Hereditary leiomyomatosis with renal carcinoma" OR "Hereditary multiple cutaneous leiomyomas" OR "Multiple cutaneous and uterine leiomyomas" OR "Reed syndrome" OR "Hereditary Leiomyomatosis and Renal Cell Carcinoma" OR "familial leiomyomatosis" OR "hereditary leiomyomatosis and renal cell cancer syndrome" OR "leiomyomatosis and renal cell cancer" OR "FH"

Recall-expansion terms: FH

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: 7 interventional · 3 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: MCUL

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1940) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:11:01.785Z