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FXTAS
MCID: FRG010
MIFTS: 43
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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:60
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:58
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:33
fragile x tremor/ataxia syndrome:
Onset and clinical course adult onset Inheritance x-linked dominant inheritance Classifications:
ICD10:
35
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OMIM
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58
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. The drugs Progesterone and Pregnanolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are depressivity and hypothyroidism UniProtKB/Swiss-Prot : 76 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. |
Human phenotypes related to Fragile X Tremor/ataxia Syndrome:60 33 (show all 48)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:300623UMLS symptoms related to Fragile X Tremor/ataxia Syndrome:ataxia, tremor, gait ataxia, myalgia, dysdiadochokinesis, action tremor, bradykinesia, resting tremor, paresthesia lower limb, static tremor, lower extremity numbness |
Drugs for Fragile X Tremor/ataxia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 12)
Interventional clinical trials:
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MalaCards organs/tissues related to Fragile X Tremor/ataxia Syndrome:42
Brain,
Testes,
Eye
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Articles related to Fragile X Tremor/ataxia Syndrome:(show top 50) (show all 133)
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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:38
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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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