FXTAS
MCID: FRG008
MIFTS: 28

Fragile X-Associated Tremor/ataxia Syndrome (FXTAS) malady

Neuronal diseases category

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females. Affected individuals have areas of damage in the part of the brain that controls movement (the cerebellum) and in a type of brain tissue known as white matter, which can be seen with magnetic resonance imaging (MRI). This damage leads to the movement problems and other impairments associated with FXTAS.

MalaCards: Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x syndrome and multiple system atrophy, and has symptoms including areflexia/hyporeflexia, paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness and obsessive-compulsive disorder. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (fragile X mental retardation 1). Affiliated tissues include cerebellum, brain and pons.

Description from OMIM:46 300623

Aliases & Classifications for Fragile X-Associated Tremor/ataxia Syndrome

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Sources:
20GeneTests, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
fragile x-associated tremor/ataxia syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000; Age of onset: Adulthood; Age of death: Elderly


Aliases & Descriptions:

fragile x-associated tremor/ataxia syndrome 20 21 48
fragile x tremor/ataxia syndrome 21 46 60
fragile x associated tremor ataxia syndrome 60
fxtas syndrome 48
fxtas 21


External Ids:

SNOMED-CT via Orphanet57 448045004
OMIM46 300623
ICD10 via Orphanet26 G11.2

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Fragile X-Associated Tremor/ataxia Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1fragile x syndrome32.0FMR1, FRAXA
2multiple system atrophy30.5FMR1
3dementia10.7
4image syndrome10.5
5alzheimer's disease10.4
6adult syndrome10.4
7anxiety disorder10.4
8hypertension10.4
9mood disorder10.4
10neuropathy10.4
11cerebellar ataxia10.0
12fmr1-related disorders10.0FMR1
13premature ovarian failure10.0FMR1
14mental retardation10.0FMR1, FRAXA

Graphical network of diseases related to Fragile X-Associated Tremor/ataxia Syndrome:



Diseases related to fragile x-associated tremor/ataxia syndrome

Clinical Features for Fragile X-Associated Tremor/ataxia Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

300623

Clinical synopsis from OMIM:

300623

Symptoms:

48 (show all 29)
  • areflexia/hyporeflexia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • obsessive-compulsive disorder
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • muscle weakness/flaccidity
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • encopresis/fecal incontinence
  • chronic arterial hypertension
  • hypotension
  • hypothyroidy
  • midbrain/brainstem/pons/medulla anomalies
  • myalgia/muscular pain
  • hypertonia/spasticity/rigidity/stiffness
  • sphincter dysfunction
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  • elocution disorders/dysarthria/dysphonia
  • psychic/psychomotor regression/dementia/intellectual decline
  • troubles of memory/amnesia/hypermnesia
  • x-linked dominant inheritance
  • fragile chromosome x site
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • impotence/painful erection/priapism/erection troubles
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • dysautonomia/autonomous nervous sytem anomalies
  • peripheral neuropathy
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy

Drugs & Therapeutics for Fragile X-Associated Tremor/ataxia Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Fragile X-Associated Tremor/ataxia Syndrome

Drug clinical trials:

Search ClinicalTrials for Fragile X-Associated Tremor/ataxia Syndrome

Search NIH Clinical Center for Fragile X-Associated Tremor/ataxia Syndrome

Search CenterWatch for Fragile X-Associated Tremor/ataxia Syndrome

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

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20GeneTests
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Genetic tests related to Fragile X-Associated Tremor/ataxia Syndrome:

id Genetic test Affiliating Genes
1 Fragile X-Associated Tremor/ataxia Syndrome20 FMR1

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

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32MalaCards
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MalaCards organs/tissues related to Fragile X-Associated Tremor/ataxia Syndrome:

32
Cerebellum, Brain, Pons

Animal Models for Fragile X-Associated Tremor/ataxia Syndrome or affiliated genes

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Publications for Fragile X-Associated Tremor/ataxia Syndrome

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Genetic Variations for Fragile X-Associated Tremor/ataxia Syndrome

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Expression for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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

Pathways for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Compounds for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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GO Terms for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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Products for genes affiliated with Fragile X-Associated Tremor/ataxia Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet