Disease

Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2

About the Disease
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2, also known as glycosylphosphatidylinositol biosynthesis defect 4, is related to paroxysmal nocturnal hemoglobinuria and hemoglobinuria, and has symptoms including myoclonic seizures An important gene associated with Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 is PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart, pons and skeletal muscle, and related phenotypes are hepatomegaly and ichthyosis

Common Targets
EDARADD | ZNF710 | KCNAB3 | PIGA | POU3F1 | KIF12 | NAV1 | CFAP45 | MAMDC2 | ZNF875 | TSPO | FAM50B | AKR1C3 | ACTN3 | PIGN | MAPRE3 | HOXB6 | UNC80 | ECEL1 | CHP2 | PIGT | SEC31B | TRPC3 | GAL3ST1

疾病靶点研报
Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2

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