Neurodegeneration with Brain Iron Accumulation 3 (NBIA3)

Alias:
Neuroferritinopathy
Hereditary Ferritinopathy
Ferritin-Related Neurodegeneration
Nbia3
Adult Basal Ganglia Disease
Basal Ganglia Disease, Adult-Onset
Neuroferritinopathy; Basal Ganglia Disease, Adult-Onset
Neurodegeneration, with Brain Iron Accumulation, Type 3
Adult-Onset Basal Ganglia Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neurodegeneration with Brain Iron Accumulation 3, also known as neuroferritinopathy, is related to movement disease and parkinsonism, and has symptoms including cerebellar ataxia, muscle rigidity and tremor. An important gene associated with Neurodegeneration with Brain Iron Accumulation 3 is FTL (Ferritin Light Chain), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drug Iron has been mentioned in the context of this disorder. Affiliated tissues include brain and cerebellum, and related phenotypes are cognitive impairment and dystonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
18
141
73

Medical Symptom

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Description
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Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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