Neurodegeneration with Brain Iron Accumulation 4 (NBIA4)

Alias:
Nbia4
Mpan
Mitochondrial Protein-Associated Neurodegeneration
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation
Mitochondrial Membrane Protein Associated Neurodegeneration
Neurodegeneration, with Brain Iron Accumulation, Type 4
Neurodegeneration with Brain Iron Accumulation Type 4
Nbia Due to C19orf12 Mutation
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodegeneration with Brain Iron Accumulation 4, also known as nbia4, is related to spastic paraplegia 43, autosomal recessive and iron metabolism disease, and has symptoms including ataxia, muscle spasticity and tremor. An important gene associated with Neurodegeneration with Brain Iron Accumulation 4 is C19orf12 (Chromosome 19 Open Reading Frame 12), and among its related pathways/superpathways are Autophagy and Iron metabolism disorders. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain and globus pallidus, and related phenotypes are global developmental delay and cerebellar atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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11
69
19

Medical Symptom

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Gene & Mutation

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References Literature

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