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Cowden syndrome

Disease definition

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed 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; see this term) group.

ORPHA:201

  • Synonym(s):
    • Cowden disease
    • Multiple hamartoma syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q85.8
  • OMIM: 158350  612359  615106  615107  615108  615109  616858
  • UMLS: C0018553
  • MeSH: D006223
  • GARD: 6202
  • MedDRA: 10051906

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