fragile X-associated tremor/ataxia syndrome

Summary
Synonym
  • FXTAS syndrome
Definition
A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
Super Class
X-linked hereditary ataxia
External Links
Disease Ontology
DOID:0050879
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
3482 IGF2R insulin like growth factor 2 receptor
5320 PLA2G2A phospholipase A2 group IIA
151056 PLB1 phospholipase B1

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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