PTEN hamartoma tumor syndrome
Name: |
PTEN hamartoma tumor syndrome
|
Description: |
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. |
ORPHAcode: |
306498
|
XREF(s): | |
Created: |
26 Jul 2019 - 08:43
|
Changed: |
26 Jul 2019 - 08:43
|