PTEN hamartoma tumor syndrome
Findings
No curated finding names PTEN hamartoma tumor syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017623), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTENHGNC:9588
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
Other names
2 names
Resolves to: PTEN hamartoma tumor syndrome
- Also called
- PHTSPTEN-related Hamartoma tumor syndrome