MCID: FRG010
MIFTS: 32

Fragile X Tremor/ataxia Syndrome

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fragile X Tremor/ataxia Syndrome

MalaCards integrated aliases for Fragile X Tremor/ataxia Syndrome:

Name: Fragile X Tremor/ataxia Syndrome 57 75 37 29 13 6 40 73
Fxtas 57 75
Fragile X-Associated Tremor/ataxia Syndrome 59
Fxtas Syndrome 59

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:

Orphanet: 59  
Rare neurological diseases


Summaries for Fragile X Tremor/ataxia Syndrome

OMIM : 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 fragile x syndrome, and has symptoms including ataxia, tremor and myalgia. 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. 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.

Related Diseases for Fragile X Tremor/ataxia Syndrome

Diseases related to Fragile X Tremor/ataxia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fragile x-associated tremor/ataxia syndrome 31.9 FMR1 LOC108684022
2 fragile x syndrome 29.0 FMR1 FMR1-AS1 LOC108684022
3 tremor 10.6
4 multiple system atrophy 1 10.1
5 alacrima, achalasia, and mental retardation syndrome 9.5 FMR1 PURA
6 learning disability 9.3 FMR1 PURA

Graphical network of the top 20 diseases related to Fragile X Tremor/ataxia Syndrome:



Diseases related to Fragile X Tremor/ataxia Syndrome

Symptoms & Phenotypes for Fragile X Tremor/ataxia Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
saccadic pursuit

Neurologic Central Nervous System:
dysarthria
dysmetria
intention tremor
dysdiadochokinesis
action tremor
more
Neurologic Behavioral Psychiatric Manifestations:
anxiety
disinhibition
depression
executive dysfunction
obsessive-compulsive disorder

Genitourinary External Genitalia Male:
impotence

Genitourinary Internal Genitalia Female:
premature ovarian failure

Muscle Soft Tissue:
muscle pain
fibromyalgia

Laboratory Abnormalities:
increased intracellular fmrp mrna
decreased intracellular fmr protein

Endocrine Features:
hypothyroidism
premature ovarian failure

Neurologic Peripheral Nervous System:
peripheral neuropathy
hyporeflexia
decreased distal vibratory sensation
lower extremity numbness
lower extremity paresthesias

Genitourinary Bladder:
urinary incontinence

Head And Neck Ears:
hearing loss

Abdomen Gastrointestinal:
incontinence

Head And Neck Face:
masked facies


Clinical features from OMIM:

300623

Human phenotypes related to Fragile X Tremor/ataxia Syndrome:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 Frequent (79-30%) HP:0000716
2 hypothyroidism 59 32 Occasional (29-5%) HP:0000821
3 dysarthria 59 32 Very frequent (99-80%) HP:0001260
4 bowel incontinence 59 32 Occasional (29-5%) HP:0002607
5 anxiety 59 32 Frequent (79-30%) HP:0000739
6 gait ataxia 59 32 Very frequent (99-80%) HP:0002066
7 dysmetria 59 32 Very frequent (99-80%) HP:0001310
8 intention tremor 59 32 Very frequent (99-80%) HP:0002080
9 memory impairment 59 32 Very frequent (99-80%) HP:0002354
10 myalgia 59 32 Occasional (29-5%) HP:0003326
11 dementia 59 32 Very frequent (99-80%) HP:0000726
12 hyporeflexia 59 32 Frequent (79-30%) HP:0001265
13 bradykinesia 59 32 Occasional (29-5%) HP:0002067
14 impotence 59 32 Frequent (79-30%) HP:0000802
15 parkinsonism 59 32 Occasional (29-5%) HP:0001300
16 nystagmus 32 HP:0000639
17 hypertension 59 Occasional (29-5%)
18 ataxia 59 Very frequent (99-80%)
19 gait disturbance 59 Very frequent (99-80%)
20 muscle weakness 59 Frequent (79-30%)
21 dysphagia 59 Occasional (29-5%)
22 dysautonomia 59 Frequent (79-30%)
23 hypotension 59 Occasional (29-5%)
24 hearing impairment 32 HP:0000365
25 peripheral neuropathy 59 Frequent (79-30%)
26 premature ovarian insufficiency 32 HP:0008209
27 urinary bladder sphincter dysfunction 59 Frequent (79-30%)
28 poor fine motor coordination 32 HP:0007010
29 mask-like facies 32 HP:0000298
30 cerebral cortical atrophy 59 Very frequent (99-80%)
31 rigidity 59 Frequent (79-30%)
32 obsessive-compulsive behavior 59 Frequent (79-30%)
33 dysdiadochokinesis 32 HP:0002075
34 saccadic smooth pursuit 32 HP:0001152
35 postural tremor 32 HP:0002174
36 cerebellar atrophy 32 HP:0001272
37 urinary incontinence 32 HP:0000020
38 pollakisuria 59 Frequent (79-30%)
39 abnormality of brainstem morphology 59 Occasional (29-5%)
40 disinhibition 32 HP:0000734
41 obsessive-compulsive trait 32 HP:0008770
42 diffuse cerebellar atrophy 59 Frequent (79-30%)
43 resting tremor 32 HP:0002322
44 dysesthesia 59 Frequent (79-30%)
45 diffuse cerebral atrophy 32 HP:0002506
46 inertia 59 Very frequent (99-80%)
47 impaired distal vibration sensation 32 HP:0006886

UMLS symptoms related to Fragile X Tremor/ataxia Syndrome:


ataxia, tremor, myalgia, bradykinesia, action tremor, static tremor, resting tremor, dysdiadochokinesis, gait ataxia, lower extremity numbness, paresthesia lower limb

Drugs & Therapeutics for Fragile X Tremor/ataxia Syndrome

Search Clinical Trials , NIH Clinical Center for Fragile X Tremor/ataxia Syndrome

Genetic Tests for Fragile X Tremor/ataxia Syndrome

Genetic tests related to Fragile X Tremor/ataxia Syndrome:

# Genetic test Affiliating Genes
1 Fragile X Tremor/ataxia Syndrome 29 FMR1

Anatomical Context for Fragile X Tremor/ataxia Syndrome

Publications for Fragile X Tremor/ataxia Syndrome

Articles related to Fragile X Tremor/ataxia Syndrome:

(show all 13)
# Title Authors Year
1
Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome. ( 28065649 )
2017
2
Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. ( 27385396 )
2016
3
Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome. ( 27761921 )
2016
4
Pearls & Oy-sters: fragile X tremor/ataxia syndrome: a diagnostic dilemma. ( 25688154 )
2015
5
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. ( 23602499 )
2013
6
Olfactory dysfunction in fragile X tremor ataxia syndrome. ( 23079771 )
2012
7
Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. ( 21170301 )
2010
8
Treatment of imbalance with varenicline Chantix(R): report of a patient with fragile X tremor/ataxia syndrome. ( 18771524 )
2009
9
[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers]. ( 19473671 )
2009
10
Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). ( 18627480 )
2009
11
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. ( 17698009 )
2007
12
Fragile X tremor/ataxia syndrome: blame the messenger! ( 17698005 )
2007
13
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. ( 15947063 )
2005

Variations for Fragile X Tremor/ataxia Syndrome

ClinVar genetic disease variations for Fragile X Tremor/ataxia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic

Expression for Fragile X Tremor/ataxia Syndrome

Search GEO for disease gene expression data for Fragile X Tremor/ataxia Syndrome.

Pathways for Fragile X Tremor/ataxia Syndrome

Pathways related to Fragile X Tremor/ataxia Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 RNA transport hsa03013

Pathways related to Fragile X Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.86 FMR1 RAN

GO Terms for Fragile X Tremor/ataxia Syndrome

Biological processes related to Fragile X Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of gene silencing by miRNA GO:0060964 8.96 FMR1 RAN
2 negative regulation of translation GO:0017148 8.62 FMR1 PURA

Sources for Fragile X Tremor/ataxia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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