Because of a lapse in government funding, the information on this website may not be up to date, transactions submitted via the website may not be processed, and the agency may not be able to respond to inquiries until appropriations are enacted. The NIH Clinical Center (the research hospital of NIH) is open. For more details about its operating status, please visit cc.nih.gov. Updates regarding government operating status and resumption of normal operations can be found at opm.gov.

NLM Logo

Neuroferritinopathy MeSH Supplementary Concept Data 2025


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 Numbers
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
page delivered in 0.005s