Pontocerebellar Hypoplasia Type 2

About the Disease
Pontocerebellar Hypoplasia, Type 2e, also known as pontocerebellar hypoplasia type 2, is related to pontocerebellar hypoplasia, type 2a and pontocerebellar hypoplasia, type 2f, and has symptoms including muscle spasticity, seizures and opisthotonus. An important gene associated with Pontocerebellar Hypoplasia, Type 2e is VPS53 (VPS53 Subunit Of GARP Complex), and among its related pathways/superpathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Affiliated tissues include brain, pons and cerebellum, and related phenotypes are sleep disturbance and severe global developmental delay

Common Targets
SEPSECS | LHCGR | TSEN2 | TSEN54 | TSEN34

Note: If you'd like to get a target analysis report for Pontocerebellar Hypoplasia Type 2, or if you are interested to learn how our AI-powered BDE-Chem can design therapeutic molecules to interact with the target(s) above against the disease of Pontocerebellar Hypoplasia Type 2 at a cost 90% lower than traditional approaches, please feel free to contact us at BD@silexon.ai.

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