PTEN hamartoma tumor syndrome
MONDO:0017623
An autosomal dominant syndrome caused by pathogenic variants in the PTEN gene, characterized by hamartomas, overgrowth, neurodevelopmental disorders and an increased risk of various cancers, including breast, thyroid, and endometrial cancer. PHTS encompasses Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
Disease research snapshot
CureCurrent currently links 1 distinct registered clinical trials to PTEN hamartoma tumor syndrome through its MONDO disease mappings. 1 of those studies have the registry status “recruiting” (100%). These are registry statuses, not availability guarantees, study results or evidence of effectiveness.
The leading sponsor shown in this linked dataset is St. Jude Children's Research Hospital, associated with 1 distinct linked trials. This is a count of records, not a ranking of the sponsor's scientific quality.
The highest-count mapped research city in the current result is Memphis, United States. Only site locations available in the published registry projection are counted; some trial sites may be missing or outdated.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Multiple hamartoma syndrome
Multiple hamartoma syndrome is a syndrome characterized by more than one hamartoma. It is sometimes equated with Cowden syndrome. However, MeSH also includes Bannayan–Zonana syndrome (that is, Bannayan–Riley–Ruvalcaba syndrome) and Lhermitte–Duclos disease under this description. Some articles include Cowden syndrome, Bannayan–Riley–Ruvalcaba syndrome, and at least some forms of Proteus syndrome and Proteus-like syndrome under the umbrella term PTEN hamartoma tumor syndromes (PHTS).
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Clinical trials
1 shownDrugs being studied
Research locations
Leading sponsors
How to interpret this record
CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.