Disease

Neurodegeneration Due To Cerebral Folate Transport Deficiency

About the Disease
Neurodegeneration Due to Cerebral Folate Transport Deficiency, also known as cerebral folate transport deficiency, is related to megaloblastic anemia due to dihydrofolate reductase deficiency and autism, and has symptoms including seizures An important gene associated with Neurodegeneration Due to Cerebral Folate Transport Deficiency is FOLR1 (Folate Receptor Alpha). Affiliated tissues include brain and cerebellum, and related phenotypes are intellectual disability and developmental regression

Common Targets
AKAP12 | SLC35A2 | CIC | ATP1A1 | PRAG1 | FOLR1 | PTPN22 | ABCA12 | SLC5A9 | RGPD2

疾病靶点研报
Neurodegeneration Due To Cerebral Folate Transport Deficiency

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