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

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

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Cowden Syndrome 1，也被称为Bannayan-Riley-Ruvalcaba综合症，与Cowden Syndrome 4和Cowden Syndrome有关，症状包括癫痫、动作震颤和小脑共济失调。与Cowden Syndrome 1有关的重要基因是PTEN（磷酸酶和张力蛋白同源物），其相关通路/超级通路包括传染病和ERK信号通路。Everolimus和Temsirolimus已在该疾病的背景下被提及。相关组织包括小脑和皮肤，相关表型为巨脑和癫痫。

Related ID：

MALACARDS：CWD006

OMIM：158350

MESH：D006223