Pantothenate Kinase-associated Neurodegeneration

About the Disease
Neurodegeneration with Brain Iron Accumulation 1, also known as pantothenate kinase-associated neurodegeneration, is related to neurodegeneration with brain iron accumulation 6 and choreoacanthocytosis, and has symptoms including ataxia, muscle rigidity and muscle spasticity. An important gene associated with Neurodegeneration with Brain Iron Accumulation 1 is PANK2 (Pantothenate Kinase 2), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Deferiprone and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and globus pallidus, and related phenotypes are spasticity and choreoathetosis

Common Targets
AP5Z1 | TPP1 | DLD | PLEKHG4 | COASY | PANK3 | PKHD1 | SPTAN1 | FBXO7 | ADCY5 | FUCA1 | EXOSC3 | EARS2 | GLB1 | PANK2 | ITPR1 | Pantothenate Kinase (nonspecified subtype)

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