Cowden Syndrome 1 (CWS1)

Cowden Syndrome 1(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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