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fragile X-associated tremor/ataxia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
Uniprot Description In FXTAS, the expanded repeats range in size from 55 to 200 repeats and are referred to as 'premutations'. Full repeat expansions with greater than 200 repeats results in fragile X mental retardation syndrome [MIM:300624]. Carriers of the premutation typically do not show the full fragile X syndrome phenotype, but comprise a subgroup that may have some physical features of fragile X syndrome or mild cognitive and emotional problems.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010382:  fragile X-associated tremor/ataxia syndrome
MESH:C564105: 
NCIT:C126566: 
Orphanet:93256: 
SCTID:448045004: 
UMLS:C1839780: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)