Cowden syndrome 1
MONDO:0008021Mondo
Findings
No curated finding names Cowden syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.
Definition from the Mondo Disease Ontology (MONDO:0008021), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HemimegalencephalyHPOHP:0007206
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 · Ambry Genetics · Autosomal dominant · 2015
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Genomics England PanelApp · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: Cowden syndrome 1
- Also called
- Cowden disease caused by mutation in PTENCowden syndrome type 1Lhermitte-Duclos syndromePTEN Cowden disease