dentatorubral-pallidoluysian atrophy

Summary
Synonym
  • DRPLA
  • Haw River Syndrome
  • Naito-Oyanagi disease
Definition
An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0060162
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2629 GBA1 glucosylceramidase beta 1
4669 NAGLU N-acetyl-alpha-glucosaminidase
4758 NEU1 neuraminidase 1
5211 PFKL phosphofructokinase, liver type
5621 PRNP prion protein (Kanno blood group)
7957 EPM2A EPM2A glucan phosphatase, laforin
10715 CERS1 ceramide synthase 1

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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