pantothenate kinase-associated neurodegeneration

Summary
Synonym
  • Hallervorden-Spatz disease
  • Hallervorden-Spatz syndrome
  • NBIA1
  • Pigmentary pallidal degeneration
  • brain Iron Accumulation type I syndrome
  • neurodegeneration with brain iron accumulation 1
Definition
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Super Class
autosomal recessive disease neurodegeneration with brain iron accumulation
External Links
Disease Ontology
DOID:3981
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
5319 PLA2G1B phospholipase A2 group IB
8398 PLA2G6 phospholipase A2 group VI
57016 AKR1B10 aldo-keto reductase family 1 member B10
151056 PLB1 phospholipase B1
Related Glycoprotein

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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