Neurodegeneration with Brain Iron Accumulation 1 (NBIA1)

Alias:

Pantothenate Kinase-Associated Neurodegeneration

Nbia1

Pkan

Hallervorden-Spatz Syndrome

Hallervorden-Spatz Disease

Neurodegeneration with Brain Iron Accumulation Type 1

Pigmentary Pallidal Degeneration

Classic Pantothenate Kinase-Associated Neurodegeneration

Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form

Neurodegeneration with Brain Iron Accumulation Type 1, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Neurodegeneration, with Brain Iron Accumulation, Type 1

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia1, Atypical Form

Nbia1, Classic Form

Pkan, Atypical Form

Pkan, Classic Form

Hss

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodegeneration with Brain Iron Accumulation 1, also known as pantothenate kinase-associated neurodegeneration, is related to neurodegeneration with brain iron accumulation 6 and dystonia 12, 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 Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are spasticity and gait disturbance

Related ID：

MALACARDS：NRD017

OMIM：234200

MESH：D006211