FXTAS
MCID: FRG008
MIFTS: 23

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

Neuronal category

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 mental retardation and fragile x syndrome, and has symptoms including cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia and hypertonia/spasticity/rigidity/stiffness. An important gene associated with Fragile X-Associated Tremor/ataxia Syndrome is FMR1 (fragile X mental retardation 1). Affiliated tissues include brain and cerebellum.

Description from OMIM:47 300623

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

Sources:
20GeneTests, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 49
fragile x tremor/ataxia syndrome 21 47 61
fragile x associated tremor ataxia syndrome 61
fxtas syndrome 49
fxtas 21


External Ids:

OMIM47 300623
ICD10 via Orphanet26 G11.2

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

Sources:
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 18)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation31.0FRAXA, FMR1
2fragile x syndrome29.9FMR1, FRAXA
3ataxia11.4
4tremor11.4
5n syndrome11.0
6micro syndrome10.5
7alzheimer's disease10.4
8adult syndrome10.4
9anxiety disorder10.4
10faces syndrome10.4
11dementia - subcortical10.4
12myoclonus10.4
13huntington's disease10.0
14spastic paraparesis10.0
15sleep apnea10.0
16fmr1-related disorders10.0FMR1
17premature ovarian failure10.0FMR1
18multiple system atrophy10.0FMR1

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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300623

Clinical synopsis from OMIM:

300623

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH 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

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Fragile X-Associated Tremor/ataxia Syndrome:

33
Brain, Cerebellum

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

Sources:
28inGenious Targeting Laboratory
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Publications for Fragile X-Associated Tremor/ataxia Syndrome

Genetic Variations for Fragile X-Associated Tremor/ataxia Syndrome

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

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

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

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

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

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  • Proteins
  • Lysates
  • Antibodies

Sources for Fragile X-Associated Tremor/ataxia Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet