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ORPHA:306498

PTEN hamartoma tumor syndrome

medium confidenceDisorder

Also known as: PHTS

Publications

1,148

86.9th percentile

Trials

5

Interventional, condition-specific

Researchers

1,321

Distinct authors in sample

Gene link

PTEN

Definitive

Readiness

5/6

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.”

5/6 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 characterisedPresent

    251 HPO annotations (e.g. Capillary hemangioma; Vascular skin abnormality; Lymphangioma) Source

  4. Animal modelPresent

    5 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  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)

251

Associated phenotypes · MONDO:0017623

  • Capillary hemangioma
  • Vascular skin abnormality
  • Lymphangioma
  • Abnormal lung lobation
  • Multiple cafe-au-lait spots

Showing 5 of 251 — open Monarch for the full list.

Animal models (Monarch / Alliance)

5

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

2

Drugs / clinical candidates · MONDO_0017623

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

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=3967) is 59.

1,148 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).

910 in the last 10 years · medium confidence · 86.9th 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 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

medium confidence · 89.2th 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

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 2026-07-30

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 PTEN hamartoma tumor 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.

"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