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
Disease Ontology
DOID:0060162
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
473 RERE arginine-glutamic acid dipeptide repeats
1822 ATN1 atrophin 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
13498 Atn1 atrophin 1
68703 Rere arginine glutamic acid dipeptide (RE) repeats
Displaying 1 entry
Gene ID Gene Symbol Description Source
46156 Gug Grunge

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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