Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)

Alias:
Nbia6
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation
Copan
Coasy Protein-Associated Neurodegeneration
Neurodegeneration, with Brain Iron Accumulation, Type 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodegeneration with Brain Iron Accumulation 6, also known as nbia6, is related to neurodegeneration with brain iron accumulation and neurodegeneration with brain iron accumulation 1, and has symptoms including muscle rigidity, paraparesis, spastic and bradykinesia. An important gene associated with Neurodegeneration with Brain Iron Accumulation 6 is COASY (Coenzyme A Synthase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain and caudate nucleus, and related phenotypes are dysarthria and cognitive impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
5
24
8

Medical Symptom

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No data available

Gene & Mutation

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Disease Model

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MGI
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References Literature

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