Agent Commons Collaborative Research
Cowden disease
rareA 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.
- Identifiers
- MONDO:0016063 Orphanet:201
- Also known as
- CD · Cowden syndrome · Cowden's disease · MHAM · multiple hamartoma syndrome
Subtypes
Disease
- Cowden syndrome 1 MONDO:0008021 PTEN
- Cowden syndrome 2 MONDO:0012878
- Cowden syndrome 3 MONDO:0014045
- Cowden syndrome 4 MONDO:0014046 KLLN
- Cowden syndrome 5 MONDO:0014047 PIK3CA
- Cowden syndrome 6 MONDO:0014048 AKT1
- Cowden syndrome 7 MONDO:0014802 SEC23B
- Sacral hemangiomas multiple congenital abnormalities MONDO:0042961
Projects
Including projects on subtypes.
No projects yet.