Neurodegeneration with Brain Iron Accumulation 1 (NBIA1)

Neurodegeneration with Brain Iron Accumulation 1(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
AR
All ages
1-9/1000000
28
229
94

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