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
Disease Ontology
DOID:0110734
Mondo Disease Ontology
MeSH
UMLS
ORDO
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1384 CRAT carnitine O-acetyltransferase
2495 FTH1 ferritin heavy chain 1
85021 REPS1 RALBP1 associated Eps domain containing 1

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: April 7, 2025