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FXTAS
MCID: FRG010
MIFTS: 42
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Fragile X Tremor/ataxia Syndrome (FXTAS)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Fragile X Tremor/ataxia Syndrome:
Characteristics:Orphanet epidemiological data:59
fragile x-associated tremor/ataxia syndrome
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult; Age of death: elderly; OMIM:57
Inheritance:
x-linked dominant
Miscellaneous:
onset in fifties or sixties caused by 55-200 expanded trinucleotide repeats in the fmr1 gene referred to as a 'premutation' most patients have a family history of fragile x syndrome full mutations with expanded trinucleotide repeats greater than 200 result in fragile x mental retardation syndrome males are more commonly affected than females HPO:32
fragile x tremor/ataxia syndrome:
Onset and clinical course adult onset Inheritance x-linked dominant inheritance Classifications:
ICD10:
34
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OMIM
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57
Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder. Amiri et al. (2008) provided a review of FXTAS and noted that the pathogenesis of the disorder is distinct from that in fragile X syndrome. FXTAS results form a toxic gain of function of FMR1 RNA, whereas fragile X syndrome results from a loss of FMR1 function.
The penetrance of FXTAS in male carriers aged 50 years and over, ascertained through families with a fragile X syndrome proband, is at least 33% (Hagerman and Hagerman, 2004); its penetrance in female carriers is approximately 5-10% (Greco et al., 2008). (300623)
MalaCards based summary : Fragile X Tremor/ataxia Syndrome, also known as fxtas, is related to fragile x-associated tremor/ataxia syndrome and tremor, and has symptoms including ataxia, tremor and gait ataxia. An important gene associated with Fragile X Tremor/ataxia Syndrome is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways is RNA transport. Affiliated tissues include brain and testes, and related phenotypes are depressivity and hypothyroidism UniProtKB/Swiss-Prot : 75 Fragile X tremor/ataxia syndrome: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300623Human phenotypes related to Fragile X Tremor/ataxia Syndrome:59 32 (show all 48)
UMLS symptoms related to Fragile X Tremor/ataxia Syndrome:ataxia, tremor, gait ataxia, myalgia, dysdiadochokinesis, action tremor, bradykinesia, resting tremor, paresthesia lower limb, lower extremity numbness, static tremor |
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MalaCards organs/tissues related to Fragile X Tremor/ataxia Syndrome:41
Brain,
Testes
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Articles related to Fragile X Tremor/ataxia Syndrome:(show all 49)
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Genes related to Fragile X Tremor/ataxia Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Fragile X Tremor/ataxia Syndrome:6
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Search
GEO
for disease gene expression data for Fragile X Tremor/ataxia Syndrome.
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Pathways related to Fragile X Tremor/ataxia Syndrome according to KEGG:37
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Cellular components related to Fragile X Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Fragile X Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:
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