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ORPHA:306498

PTEN hamartoma tumor syndrome

medium confidenceDisorder

Also known as: PHTS

Publications

1,148

92.9th percentile

Trials

5

Interventional, condition-specific

Researchers

1,321

Distinct authors in sample

Gene link

PTEN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A group rare skin tumor or hamartoma diseases characterized by a germline PTEN mutation and clinical manifestations of hamartomas, overgrowth, and increased risk of neoplasia, notably breast carcinomas, epithelial thyroid carcinomas, endometrial carcinomas, renal cell carcinomas, and colorectal carcinoma. Non-malignant manifestations include macrocephaly, benign thyroid pathology (especially Hashimoto thyroiditis), mucocutaneous hamartomas, colonic polyps, and vascular malformations. Diseases in this group include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus-like syndrome, Lhermitte-Duclos disease, and Segmental outgrowth-lipomatosis-arteriovenous -epidermal nevus syndrome.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

PTEN-related Hamartoma tumor 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 — PTEN

  2. LiteraturePresent

    1,148 matched papers (910 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

    5 matched on ClinicalTrials.gov (1 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 (PTEN).

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?

1,148

1,148 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.

1,148 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).

910 in the last 10 years · medium confidence · 92.9th percentile (publications denominator)

Phrase hits: 1,148 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,321

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
    Eng C23 papers · 2026

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.

    Papers in Europe PMC
  2. 02
    Hoogerbrugge N14 papers · 2025

    Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud university medical center, Nijmegen, the Netherlands; Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.

    Papers in Europe PMC
  3. 03
    Sahin M12 papers · 2026

    Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.

    Papers in Europe PMC
  4. 04
    Yehia L11 papers · 2026

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.

    Papers in Europe PMC
  5. 05
    Hardan AY10 papers · 2026

    Cristan Farmer, Audrey Thurm, and Tanvi Das, National Institute of Mental Health; E. Martina Bebin, University of Alabama at Birmingham; Jonathan A. Bernstein, Stanford University School of Medicine; Elizabeth Berry-Kravis, Rush University Medical Center; Joseph D. Buxbaum, Icahn School of Medicine at Mount Sinai; Charis Eng, Cleveland Clinic; Thomas Frazier, John Carroll University, SUNY Upstate Medical University; Antonio Y. Hardan, Stanford University; Alexander Kolevzon, Icahn School of Medicine at Mount Sinai; Darcy A. Krueger, Cincinnati Children's Hospital Medical Center; Julian A. Martinez-Agosto, University of California at Los Angeles; Hope Northrup, University of Texas Health Science Center at Houston, Children's Memorial Hospital; Craig M. Powell, University of Alabama at Birmingham Heersink School of Medicine and Civitan International Research Center; Latha Valluripalli Soorya, Rush University Medical Center; Joyce Y. Wu, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine; and Mustafa Sahin, Children's Hospital, Harvard Medical School.

    Papers in Europe PMC
  6. 06
    Frazier TW9 papers · 2026

    Department of Psychology, John Carroll University, University Heights, Ohio, 44118, USA.

    Papers in Europe PMC
  7. 07
    Vos JR9 papers · 2025

    Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud university medical center, Nijmegen, the Netherlands; Radboud university medical center, Radboud Institute for Health Sciences, Nijmegen, the Netherlands. Electronic address: janet.vos@radboudumc.nl.

    Papers in Europe PMC
  8. 08
    MacFarland SP8 papers · 2026

    Division of Oncology, Department of Pediatrics, Children's Hospital of Phialdelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  9. 09
    Schuurs-Hoeijmakers JHM8 papers · 2025

    Department of Human Genetics, Radboudumc Expert Center for PHTS, Radboud university medical center, Nijmegen, the Netherlands.

    Papers in Europe PMC
  10. 10
    Liu D7 papers · 2025

    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, 44195, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 27 July 2026

5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).

medium confidence · 87.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

5 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.

"PTEN hamartoma tumor syndrome" OR "PTEN-related Hamartoma tumor syndrome"

Run this search on Europe PMC

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

"PTEN hamartoma tumor syndrome" OR "PTEN-related Hamartoma tumor syndrome"

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: 5 interventional · 5 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: PHTS

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

Ingested 2026-07-27T12:46:34.805Z