Cowden Syndrome 5 (CWS5)

Alias:
Cws5
Cowden Syndrome, Type 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cowden Syndrome 5, also known as cws5, is related to spinocerebellar ataxia 34 and spastic quadriplegic cerebral palsy. An important gene associated with Cowden Syndrome 5 is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are PI3K / Akt Signaling and Fatty acyl-CoA biosynthesis. Affiliated tissues include thyroid and breast, and related phenotypes are intellectual disability and intellectual disability, mild
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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6
108
2

Medical Symptom

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Gene & Mutation

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References Literature

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