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Neuroferritinopathy MeSH Supplementary Concept Data 2024


MeSH Supplementary
Neuroferritinopathy
Unique ID
C548080
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C548080
Entry Term(s)
Basal Ganglia Disease, Adult-Onset
Ferritin-Related Neurodegeneration
Hereditary Ferritinopathy
NBIA3
Neurodegeneration With Brain Iron Accumulation 3
Registry Number
0
Heading Mapped to
*Neuroaxonal Dystrophies
*Iron Metabolism Disorders
Frequency
40
Note
Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the BASAL GANGLIA and other brain regions, resulting in movements similar to those observed in PARKINSONISM and DYSTONIA. Age at onset, cognitive involvement, and mode of inheritance are variable. NBIA3 is autosomal dominant with age of onset from 13 to 63 years of age and is caused by mutations in the FTL gene. OMIM: 606159
Date of Entry
2010/08/25
Revision Date
2015/08/18
Neuroferritinopathy Preferred
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