Human genes for Bannayan-Riley-Ruvalcaba syndrome
Bannayan-Riley-Ruvalcaba syndrome [DOID:0050657]
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant form, but sporadic cases have been reported. The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome, juvenile polyposis and Cowden syndrome. Mutation of the PTEN gene underlies this syndrome, as well as Cowden syndrome, Proteus syndrome, and Proteus-like syndrome. Collectively, these four syndromes are referred to as PTEN Hamartoma-Tumor Syndromes (PHTS).
Synonyms: Bannayan-Riley-Ruvalcaba syndrome, BannayanRileyRuvalcaba syndrome, Bannayan-Riley-Ruvalcaba disease, Bannayan-Riley-Ruvalcaba disorder, DOID:0050657 ...