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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

Publications

2,587

Trials

7

Interventional, condition-specific

Researchers

1,171

Distinct authors in sample

Gene link

FH

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — FH

  2. LiteraturePresent

    2,587 matched papers (1,833 in last 10 years) Source

  3. Phenotype characterisedPresent

    18 HPO annotations (e.g. Cataract; Abnormality of the musculature; Esophageal neoplasm) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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)

18

Associated phenotypes · MONDO:0007888

  • Cataract
  • Abnormality of the musculature
  • Esophageal neoplasm
  • Pruritus
  • Uterine leiomyosarcoma

Showing 5 of 18 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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

6

Drugs / clinical candidates · MONDO_0007888

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,587

2,587 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.

2,587 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).

1,833 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 11 September 2026 · last trial check 28 July 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th 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

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 Hereditary leiomyomatosis and renal cell cancer — 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.

("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 syndrome" OR "FH-related")

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"

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: ok — strategies attempted: phrase; 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 (2587) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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