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
Disease Ontology
DOID:3981
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
6620 SNCB synuclein beta
6622 SNCA synuclein alpha
6623 SNCG synuclein gamma
79646 PANK3 pantothenate kinase 3
80025 PANK2 pantothenate kinase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
20617 Snca synuclein, alpha
20618 Sncg synuclein, gamma
104069 Sncb synuclein, beta
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29219 Snca synuclein alpha
64347 Sncg synuclein, gamma
113893 Sncb synuclein, beta

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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: December 9, 2024