Cowden disease
Findings
No curated finding names Cowden disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
Definition from the Mondo Disease Ontology (MONDO:0016063), read 2026-09-29. CC BY 4.0.
Features
57 features
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.
- Breast carcinomaHPOHP:0003002
- Very frequent (80% to 99% of cases)
- Colorectal polyposisHPOHP:0200063
- Very frequent (80% to 99% of cases)
- Conjunctival hamartomaHPOHP:0100780
- Very frequent (80% to 99% of cases)
- Generalized hyperkeratosisHPOHP:0005595
- Very frequent (80% to 99% of cases)
- GoiterHPOHP:0000853
- Very frequent (80% to 99% of cases)
- MaculeHPOHP:0012733
- Very frequent (80% to 99% of cases)
- Neoplasm of the skinHPOHP:0008069
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- PapillomaHPOHP:0012740
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Abnormal penis morphologyHPOHP:0000036
- Frequent (30% to 79% of cases)
- Abnormality of the thyroid glandHPOHP:0000820
- Frequent (30% to 79% of cases)
Show the remaining 45
- Adenoma sebaceumHPOHP:0009720
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Cavernous hemangiomaHPOHP:0001048
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- FibromaHPOHP:0010614
- Frequent (30% to 79% of cases)
- Furrowed tongueHPOHP:0000221
- Frequent (30% to 79% of cases)
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
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Cowden disease
- Also called
- Cowden syndromeCowden's diseasemultiple hamartoma syndrome