Pelizaeus-Merzbacher Disease

About the Disease
Pelizaeus-Merzbacher Disease, also known as pmd, is related to pelizaeus-merzbacher-like disease and leukodystrophy, hypomyelinating, 2, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Pelizaeus-Merzbacher Disease is PLP1 (Proteolipid Protein 1), and among its related pathways/superpathways are Neural crest differentiation and Neural Stem Cells and Lineage-specific Markers. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include Spinal Cord and Brain, and related phenotypes are spasticity and scoliosis

Common Targets
THRB | AIMP1 | PLP1 | SLC16A2 | MAG | GJC2 | SMARCB1 | SNAP29 | POLR3A | THRA | RARS1

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