neurodegeneration with brain iron accumulation

Summary
Synonym
  • NBIA
Definition
A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia.
Super Class
neurodegenerative disease
External Links
Disease Ontology
DOID:0110734
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
2720 GLB1 galactosidase beta 1
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
5319 PLA2G1B phospholipase A2 group IB
5321 PLA2G4A phospholipase A2 group IVA
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
6448 SGSH N-sulfoglucosamine sulfohydrolase
8398 PLA2G6 phospholipase A2 group VI
57016 AKR1B10 aldo-keto reductase family 1 member B10
151056 PLB1 phospholipase B1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024