MCID: FRG008
MIFTS: 36

Fragile X-Associated Tremor/ataxia Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

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

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Sources:
22GeneTests, 23Genetics Home Reference, 65UMLS, 10Disease Ontology, 12DISEASES, 51Orphanet, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Fragile X-Associated Tremor/ataxia Syndrome:

Name: Fragile X-Associated Tremor/ataxia Syndrome 10 22 23 12 51
Fragile X Tremor/ataxia Syndrome 22 23 65
Fxtas Syndrome 10 51
 
Fxtas 22 23
Fragile X-Associated Tremor Ataxia Syndrome 22

Characteristics:

Orphanet epidemiological data:

51
fragile x-associated tremor/ataxia syndrome:
Inheritance: X-linked dominant; Prevalence: 1-9/100000 (United States); Age of onset: Adult; Age of death: elderly

Classifications:



External Ids:

Disease Ontology10 DOID:0050879
Orphanet51 93256
ICD10 via Orphanet28 G11.2
UMLS via Orphanet66 C3164069
UMLS65 C1839780

Summaries for Fragile X-Associated Tremor/ataxia Syndrome

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Genetics Home Reference:23 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 based summary: Fragile X-Associated Tremor/ataxia Syndrome, also known as fragile x tremor/ataxia syndrome, is related to fragile x tremor/ataxia syndrome and pneumonia, and has symptoms including cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy, abnormal gait and ataxia/incoordination/trouble of the equilibrium. 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.

Disease Ontology:10 A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has material basis in expanded trinucleotide repeat of the FMR1 gene that results in a toxic gain of function of FMR1 RNA.

Related Diseases for Fragile X-Associated Tremor/ataxia Syndrome

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



Diseases related to fragile x-associated tremor/ataxia syndrome

Symptoms for Fragile X-Associated Tremor/ataxia Syndrome

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Symptoms:

 51 (show all 29)
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • 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
  • sphincter dysfunction
  • hypertonia/spasticity/rigidity/stiffness
  • 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

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

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Drugs for Fragile X-Associated Tremor/ataxia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1PregnanolonePhase 210
2Central Nervous System DepressantsPhase 210016
3AnestheticsPhase 27385
4
Memantineapproved, investigational17219982-08-24054
Synonyms:
1,3-Dimethyl-5-adamantanamine
1-Amino-3,5-dimethyladamantane
19982-08-2
3,5-Dimethyl-1-adamantanamine
3,5-Dimethyl-1-adamantylamine
3,5-Dimethyl-1-aminoadamantane
3,5-Dimethyladamantan-1-ylamine
3,5-Dimethyltricyclo(3.3.1.1(3,7))decan-1-amine
3,5-dimethyladamantan-1-amine
3,5-dimethyltricyclo[3.3.1.1~3,7~]decan-1-amine
41100-52-1 (Hydrochloride)
51052-62-1
AB00053600
AC1L1HB7
AKOS000113995
BBL000737
BPBio1_001117
BPBio1_001270
BSPBio_001015
Biomol-NT_000209
C13736
CBMicro_020348
CHEBI:152523
CHEMBL807
CID4054
D08174
DB01043
DMAA
DivK1c_000068
EU-0053634
Ebixa
Exiba
Exiba (TN)
HMS500D10
HSDB 7327
IDI1_000068
KBio1_000068
KBio2_001087
KBio2_003655
 
KBio2_006223
KBio3_001926
KBioGR_001543
KBioSS_001087
LS-157051
Lopac0_000861
Memantin
Memantina
Memantina [INN-Spanish]
Memantine
Memantine (INN)
Memantine HCL
Memantine Hydrochloride
Memantine [INN:BAN]
Memantine [INN]
Memantinum
Memantinum [INN-Latin]
MolPort-002-041-858
NCGC00015705-05
NCGC00024782-02
NCGC00024782-03
NINDS_000068
Namenda
Oprea1_480562
Prestwick0_000978
Prestwick1_000978
Prestwick2_000978
Prestwick3_000978
SPBio_001456
SPBio_002926
ST057652
STK520682
Spectrum2_001408
Spectrum3_000923
Spectrum4_001022
Spectrum5_001355
Spectrum_000607
UNII-W8O17SJF3T
ZERO/006024
memantine
5
Dopamineapproved308462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
6Neurotransmitter Agents14795
7Antiparkinson Agents1312
8Excitatory Amino Acids1109
9Excitatory Amino Acid Antagonists1095
10Dopamine Agents3084

Interventional clinical trials:

idNameStatusNCT IDPhase
1Treatment of Fragile-X Associated Tremor/Ataxia Syndrome (FXTAS) With AllopregnanoloneEnrolling by invitationNCT02603926Phase 2
2Citocoline for Treatment of FXTASNot yet recruitingNCT02197104Phase 2
3Memantine Treatment in Fragile X-Associated Tremor/Ataxia SyndromeRecruitingNCT00584948

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

Genetic Tests for Fragile X-Associated Tremor/ataxia Syndrome

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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 Syndrome22 FMR1

Anatomical Context for Fragile X-Associated Tremor/ataxia Syndrome

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

33
Cerebellum, Brain, Pons, Breast, Thyroid, Testes, Prostate

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

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MGI Mouse Phenotypes related to Fragile X-Associated Tremor/ataxia Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Fragile X-Associated Tremor/ataxia Syndrome

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Articles related to Fragile X-Associated Tremor/ataxia Syndrome:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Oxytocin activates NF-I_B-mediated inflammatory pathways in human gestational tissues. (25451977)
2015
2
Predictive value of prepartum serum metabolites for incidence of clinical and subclinical mastitis in grazing primiparous Holstein cows. (23526122)
2013
3
Predicting SjAPgren's syndrome in patients with recent-onset SLE. (23594470)
2013
4
Decreasing the stigma burden of chronic pain. (24170487)
2013
5
Dengue virus infection induces upregulation of hn RNP-H and PDIA3 for its multiplication in the host cell. (22207023)
2012
6
Safety and efficacy of intraoperative angiography in craniotomies for cerebral aneurysms and arteriovenous malformations: a review of 1093 consecutive cases. (22986597)
2012
7
Cortactin is associated with tumour progression and poor prognosis in prostate cancer and SIRT2 other than HADC6 may work as facilitator in situ. (22944623)
2012
8
Leprosy in Buriticupu, state of MaranhALo: active search in the general population. (22534992)
2012
9
Extreme achalasia presenting as anorexia nervosa. (23091768)
2012
10
Syncope. (22032666)
2011
11
IL-4 and IL-13 exposure during mucociliary differentiation of bronchial epithelial cells increases antimicrobial activity and expression of antimicrobial peptides. (21529380)
2011
12
Effects on growth and metabolism of growth hormone treatment for 3 years in 36 children with Prader-Willi syndrome. (20847547)
2011
13
Primary and malignant cholangiocytes undergo CD40 mediated Fas dependent apoptosis, but are insensitive to direct activation with exogenous Fas ligand. (21103345)
2010
14
Challenges in clinical-pathologic correlations: acute tubular necrosis in a patient with collapsing focal and segmental glomerulosclerosis mimicking rapidly progressive glomerulonephritis. (20722570)
2010
15
Blastocystis legumain is localized on the cell surface, and specific inhibition of its activity implicates a pro-survival role for the enzyme. (19915007)
2010
16
Reibergram of intrathecal synthesis of C4 in patients with eosinophilic meningitis caused by Angiostrongylus cantonensis. (20519605)
2010
17
ABAD: a potential therapeutic target for Abeta-induced mitochondrial dysfunction in Alzheimer's disease. (19601895)
2009
18
The potential of monoclonal antibodies in cancer : established trastuzumab and cetuximab and promising targets IGF-1R and c-MET]. (20035684)
2009
19
Distinct growth factor-induced dynamic mass redistribution (DMR) profiles for monitoring oncogenic signaling pathways in various cancer cells. (19604037)
2009
20
Dietary restriction, cardiac autonomic regulation and stress reactivity in bulimic women. (19497332)
2009
21
Location and expression of apo(a) and apoB in peripheral blood of patients with cardiovascular disease]. (18560450)
2008
22
Oxidized and reduced mannan mediated MUC1 DNA immunization induce effective anti-tumor responses. (18550230)
2008
23
Bilateral herpes simplex keratitis with unilateral secondary bacterial keratitis and corneal perforation in a patient with pityriasis rubra pilaris. (19034146)
2008
24
The Role of the PAX8/PPARgamma Fusion Oncogene in Thyroid Cancer. (18989374)
2008
25
In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model. (17613537)
2007
26
c-MYC impairs immunogenicity of human B cells. (17419945)
2007
27
Parathyroid hormone decreases renal vitamin D receptor expression in vivo. (15769857)
2005
28
Protein profiling and identification of modulators regulated by human papillomavirus 16 E7 oncogene in HaCaT keratinocytes by proteomics. (16038965)
2005
29
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. (15745925)
2005
30
Quality of life measures for fecal incontinence and their use in children. (15946142)
2005
31
Virus infection of dendritic cells: portal for host invasion and host defense. (15223061)
2004
32
Inhibitory effect of C-type natriuretic peptide (CNP) on cultured cardiac myocyte hypertrophy: interference between CNP and endothelin-1 signaling pathways. (14749356)
2004
33
Calcium pyrophosphate dihydrate crystal associated induction of neutrophil activation and repression of TNF-alpha-induced apoptosis is mediated by the p38 MAP kinase. (14636891)
2004
34
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. (15060842)
2004
35
Involvement of multidrug resistance-associated proteins in regulating cellular levels of (-)-epigallocatechin-3-gallate and its methyl metabolites. (14511674)
2003
36
Urinary release of 72 and 92 kDa gelatinases, TIMPs, N-GAL and conventional prognostic factors in urothelial carcinomas. (12361901)
2002
37
The brain in Down syndrome (TRISOMY 21). (12382149)
2002
38
Endothelin-1 induces contraction of human and Australian possum gallbladder in vitro. (11600208)
2001
39
Therapeutic efficacy of allopurinol in mania associated with hyperuricemia. (11763015)
2001
40
Manipulation of TGF-beta to control autoimmune and chronic inflammatory diseases. (10611763)
1999
41
Formation of HNK-1 determinants and the glycosaminoglycan tetrasaccharide linkage region by UDP-GlcUA:Galactose beta1, 3-glucuronosyltransferases. (10075678)
1999
42
Bone imaging in SAPHO syndrome. (9790048)
1998
43
Clinical significance of fibrinolytic system defectiveness in exercise induced myocardial ischemia and its mechanism]. (8565712)
1995
44
Prolonged akinetic mutism due to multiple sclerosis. (7711499)
1995
45
Antibodies to histones in systemic lupus erythematosus: prevalence, specificity, and relationship to clinical and laboratory features. (1540040)
1992
46
Trafficking of glucose transporters in 3T3-L1 cells. Inhibition of trafficking by phenylarsine oxide implicates a slow dissociation of transporters from trafficking proteins. (1536656)
1992
47
Unipolar coagulation in colon angiodysplasia. (1296661)
1992
48
Secondary amyloidosis and cystic fibrosis. A morphological and histochemical study of five cases. (2980744)
1987
49
Tuberculoid leprosy; warty lepride. (18873454)
1948
50

Variations for Fragile X-Associated Tremor/ataxia Syndrome

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Clinvar genetic disease variations for Fragile X-Associated Tremor/ataxia Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FMR1FMR1, (CGG)n EXPANSIONNT expansionPathogenic

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

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

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Cellular components related to Fragile X-Associated Tremor/ataxia Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projectionGO:00430059.7FMR1, GRM5

Sources for Fragile X-Associated Tremor/ataxia Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet