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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-10-2019
Symbol BZS
Location 10q23.31
Name Bannayan-Zonana syndrome
Other name(s) Bannayan-Riley-Ruvalcaba syndrome
Corresponding gene PTEN
Other symbol(s) BRRS, PHTS
Main clinical features
  • macrocephaly, hemangiomatosis, lipomatosis, speckled penis and a risk of cancer
  • multiple hamartomas or cancer
  • macrocephaly, lipomas and pigmenta macules of the glans penis
  • Genetic determination autosomal dominant
    Related entries MHAM
    Function/system disorder congenital malformation
    Type malignancy
    Gene product
    Name tyrosine phosphatase and tensin homolog (PTEN)
  • grouped with its allelic disorder Cowden syndrome and classified as the PTEN- hamartoma syndrome (PHTS)
  • exon 6 skipping of PTEN gene produces two different phenotypes of BZS associated with posterior subcapsular congenital cataract