MeSH Browser

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

Concept UI: M0544801
Registry Numbers: 0
Terms: Neuroferritinopathy Preferred Term
Term UI T767956
Date03/25/2010
LexicalTag NON
ThesaurusID; Neurodegeneration With Brain Iron Accumulation 3
Term UI T806446
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Basal Ganglia Disease, Adult-Onset
Term UI T806448
Date11/15/2011
LexicalTag NON
ThesaurusID; Ferritin-Related Neurodegeneration
Term UI T842125
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); Hereditary Ferritinopathy
Term UI T842126
Date04/18/2013
LexicalTag NON
ThesaurusID GHR (2014); NBIA3
Term UI T000883996
Date07/24/2015
LexicalTag NON
ThesaurusID OMIM (2016)

Neuroferritinopathy MeSH Supplementary Concept Data 2025