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PTEN hamartoma tumor syndrome

Disease Summary
Associated Targets (12)
Tbio

6

Tclin

3

Tchem

3


GARD Rare
Mondo Description 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 belong to PHTS.
Mondo Term and Equivalent IDs
MONDO:0017623:  PTEN hamartoma tumor syndrome
GARD:0012800: 
Orphanet:306498: 
SCTID:722859001: 
UMLS:C1959582: