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PTEN hamartoma tumor syndrome

Disease definition

PTEN hamartoma tumor syndrome (PHTS) is a term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Currently, subsets carrying clinical diagnoses of Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus and Proteus-like syndromes and SOLAMEN syndrome (see these terms) belong to PHTS.

ORPHA:306498

  • Synonym(s):
    • PHTS
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: -
  • OMIM: -
  • UMLS: C1959582
  • MeSH: -
  • GARD: 12800
  • MedDRA: -

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