Cowden Syndrome 1 (CWS1)
Alias:
Bannayan-Riley-Ruvalcaba Syndrome
Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease
Bannayan-Zonana Syndrome
Phts
Dysplastic Gangliocytoma of the Cerebellum
Ruvalcaba-Myhre-Smith Syndrome
Riley-Smith Syndrome
Myhre-Riley-Smith Syndrome
Brrs
Bzs
Ldd
Pten Hamartoma Tumor Syndrome with Granular Cell Tumor
Bannayan-Ruvalcaba-Riley Syndrome
Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple
Multiple Hamartoma Syndrome
Cws1
Mham
Rmss
Cs
Cd
Macrocephaly, Pseudopapilledema, and Multiple Hemangiomata
Macrocephaly Pseudopapilledema and Multiple Hemangiomata
Cerebellar Granule Cell Hypertrophy and Megalencephaly
Macrocephaly, Multiple Lipomas, and Hemangiomata
Macrocephaly Multiple Lipomas and Hemangiomata
Pten Hamartoma Tumor Syndromes
Ruvalcaba-Myhre Syndrome
Cowden Syndrome, Type 1
Cowden Syndrome
Cowden Disease
Bbrs
Cpd6
Cowden Syndrome 1, also known as bannayan-riley-ruvalcaba syndrome, is related to cowden syndrome 4 and cowden syndrome, and has symptoms including seizures, action tremor and cerebellar ataxia. An important gene associated with Cowden Syndrome 1 is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Infectious disease and ERK Signaling. The drugs Everolimus and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include cerebellum and skin, and related phenotypes are macrocephaly and seizure
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