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GENATLAS PHENOTYPE

last update : 28/10/2008

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)

Remark(s)

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