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. (Orphanet Rare Disease Ontology, Orphanet_306498)
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1 genes associated with the pten hamartoma tumor syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.