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fragile X-associated tremor/ataxia syndrome
Disease Summary
Associated Targets (1)
Tbio
1
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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050879
MESH:C564105
NCIT:C126566
OMIM:300623
Orphanet:93256
SCTID:448045004
UMLS:C1839780
MONDO:0010382
High level summary of knowledge for a disease, including descriptions and datasource references.