Canavan Disease
Canavan Disease
About the Disease
Canavan Disease, also known as aspartoacylase deficiency, is related to leukodystrophy and megalencephalic leukoencephalopathy with subcortical cysts, and has symptoms including opisthotonus An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. The drugs Prednisone and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and prefrontal cortex, and related phenotypes are macrocephaly and eeg abnormality
Common Targets
THRB | RHO | NAT8L | PROM1 | ASPA | THRA | NOTCH3

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