MCID: DYS064
MIFTS: 43

Dystonia 3, Torsion, X-Linked

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Dystonia 3, Torsion, X-Linked

MalaCards integrated aliases for Dystonia 3, Torsion, X-Linked:

Name: Dystonia 3, Torsion, X-Linked 57 25 75 29 6 73
X-Linked Dystonia-Parkinsonism 12 24 25 59 75 15
Dyt3 57 25 59 75
Xdp 57 25 59 75
Dystonia-Parkinsonism, X-Linked 57 25 13
Lubag 25 59 75
Torsion Dystonia-Parkinsonism, Filipino Type 57 25
Dystonia Musculorum Deformans 25 73
X-Linked Torsion Dystonia-Parkinsonism Syndrome 25
Torsion Dystonia-Parkinsonism Filipino Type 75
X-Linked Dystonia-Parkinsonism Syndrome 25
Dystonia-Parkinsonism, X-Linked; Xdp 57
Dystonia, Torsion, X-Linked, Type 3 40
X-Linked Torsion Dystonia 3 75
Lubag Syndrome 59
Dystonia-3 75

Characteristics:

Orphanet epidemiological data:

59
x-linked dystonia-parkinsonism
Inheritance: Not applicable,X-linked recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Philippines); Age of onset: Adult; Age of death: adult;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
onset in fourth decade
described predominantly in families from the philippines
symptoms begin focally, later segmental or generalized
women may be mildly affected
associated with a disease-specific sequence change, referred to as 'dsc3,' within an open-reading frame (orf) of a 'multiple transcript system' known as dyt3


HPO:

32
dystonia 3, torsion, x-linked:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 314250
Disease Ontology 12 DOID:0090057
ICD10 33 G24.1
Orphanet 59 ORPHA53351
ICD10 via Orphanet 34 G24.1
UMLS via Orphanet 74 C1839130
MedGen 42 C1839130
MeSH 44 D004421
UMLS 73 C1839130

Summaries for Dystonia 3, Torsion, X-Linked

UniProtKB/Swiss-Prot : 75 Dystonia 3, torsion, X-linked: A X-linked dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemble that in Huntington disease.

MalaCards based summary : Dystonia 3, Torsion, X-Linked, also known as x-linked dystonia-parkinsonism, is related to dystonia 1, torsion, autosomal dominant and dystonia 12, and has symptoms including dystonia, myoclonus and torticollis. An important gene associated with Dystonia 3, Torsion, X-Linked is TAF1 (TATA-Box Binding Protein Associated Factor 1). The drug Mung bean has been mentioned in the context of this disorder. Affiliated tissues include caudate nucleus, eye and tongue, and related phenotypes are blepharospasm and torsion dystonia

Disease Ontology : 12 A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has material basis in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1.

Genetics Home Reference : 25 X-linked dystonia-parkinsonism is a movement disorder that has been found only in people of Filipino descent. This condition affects men much more often than women.

Description from OMIM: 314250
GeneReviews:

Related Diseases for Dystonia 3, Torsion, X-Linked

Graphical network of the top 20 diseases related to Dystonia 3, Torsion, X-Linked:



Diseases related to Dystonia 3, Torsion, X-Linked

Symptoms & Phenotypes for Dystonia 3, Torsion, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
chorea
myoclonus
torsion dystonia
focal tremor
chorea-ballism
more
Head And Neck Eyes:
spasmodic eye blinking


Clinical features from OMIM:

314250

Human phenotypes related to Dystonia 3, Torsion, X-Linked:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 blepharospasm 59 32 frequent (33%) Frequent (79-30%) HP:0000643
2 torsion dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001304
3 myoclonus 59 32 frequent (33%) Frequent (79-30%) HP:0001336
4 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
5 chorea 59 32 frequent (33%) Frequent (79-30%) HP:0002072
6 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
7 resting tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002322
8 shuffling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002362
9 hand tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002378
10 parkinsonism with favorable response to dopaminergic medication 59 32 frequent (33%) Frequent (79-30%) HP:0002548
11 progressive extrapyramidal muscular rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0007158
12 difficulty walking 59 32 occasional (7.5%) Occasional (29-5%) HP:0002355
13 frequent falls 59 32 occasional (7.5%) Occasional (29-5%) HP:0002359
14 limb dystonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002451
15 laryngeal stridor 59 32 occasional (7.5%) Occasional (29-5%) HP:0006511
16 protruding tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010808
17 aspiration pneumonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011951
18 impaired oropharyngeal swallow response 59 32 occasional (7.5%) Occasional (29-5%) HP:0031162
19 focal dystonia 59 Frequent (79-30%)
20 tremor 32 HP:0001337

UMLS symptoms related to Dystonia 3, Torsion, X-Linked:


dystonia, myoclonus, torticollis, dystonia, paroxysmal, dystonia, limb

MGI Mouse Phenotypes related to Dystonia 3, Torsion, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.02 ATP1A3 GCH1 HPCA PNKD THAP1

Drugs & Therapeutics for Dystonia 3, Torsion, X-Linked

Drugs for Dystonia 3, Torsion, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mung bean Approved, Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bilateral Internal Pallidum Stimulation in Primary Generalized Dystonia Unknown status NCT00272246 Phase 2, Phase 3
2 MINGO Supplemental Trial in X-linked Dystonia-Parkinsonism Patients Completed NCT03019458 Not Applicable

Search NIH Clinical Center for Dystonia 3, Torsion, X-Linked

Genetic Tests for Dystonia 3, Torsion, X-Linked

Genetic tests related to Dystonia 3, Torsion, X-Linked:

# Genetic test Affiliating Genes
1 Dystonia 3, Torsion, X-Linked 29 TAF1

Anatomical Context for Dystonia 3, Torsion, X-Linked

MalaCards organs/tissues related to Dystonia 3, Torsion, X-Linked:

41
Caudate Nucleus, Eye, Tongue, Brain, Testes, Globus Pallidus

Publications for Dystonia 3, Torsion, X-Linked

Articles related to Dystonia 3, Torsion, X-Linked:

(show all 48)
# Title Authors Year
1
Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. ( 28094105 )
2017
2
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. ( 28059473 )
2017
3
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. ( 28505262 )
2017
4
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. ( 28017799 )
2016
5
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. ( 26879577 )
2016
6
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. ( 26769797 )
2016
7
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. ( 25914216 )
2015
8
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). ( 25604858 )
2015
9
X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. ( 23184149 )
2013
10
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism. ( 23435702 )
2013
11
Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism. ( 23599389 )
2013
12
Bilateral Pallidal Deep Brain Stimulation for X-linked Dystonia Parkinsonism. ( 24076056 )
2013
13
Anesthesia for deep brain stimulation in a patient with X-linked dystonia-parkinsonism/Lubag disease. ( 23614923 )
2013
14
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. ( 23389859 )
2013
15
Pathological gambling in x-linked dystonia parkinsonism. ( 23629417 )
2013
16
Depression in X-linked dystonia-parkinsonism: a case-control study. ( 23706616 )
2013
17
Impulse control disorder in a patient with X-linked dystonia-parkinsonism after bilateral pallidal deep brain stimulation. ( 23920134 )
2013
18
The promise of deep brain stimulation in X-linked dystonia parkinsonism. ( 21244299 )
2011
19
The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part II): an open-label experience with botulinum toxin-A (DysportAr) injections for oromandibular, lingual, and truncal-axial dystonias. ( 21348790 )
2011
20
Oral pharmacological treatment of X-linked dystonia parkinsonism: successes and failures. ( 21244304 )
2011
21
Pre- and post- GPi DBS neuropsychological profiles in a case of X-linked dystonia-Parkinsonism. ( 21253963 )
2011
22
The broadening application of chemodenervation in X-linked dystonia-parkinsonism (Part I): muscle afferent block versus botulinum toxin-A in cervical and limb dystonias. ( 21244305 )
2011
23
X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics. ( 24868378 )
2010
24
Bilateral pallidal stimulation for x-linked dystonia parkinsonism. ( 20697054 )
2010
25
Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag). ( 20714213 )
2010
26
Neuropsychological profile of a Filipino gentleman with X-linked dystonia-parkinsonism: a case report of Lubag disease. ( 18609312 )
2009
27
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). ( 17377924 )
2007
28
The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism. ( 17668393 )
2007
29
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. ( 17273961 )
2007
30
First case of X-linked dystonia-parkinsonism (&amp;quot;Lubag&amp;quot;) to demonstrate a response to bilateral pallidal stimulation. ( 17579361 )
2007
31
First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia. ( 16242937 )
2005
32
Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. ( 15465396 )
2004
33
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (&amp;quot;lubag&amp;quot;) in women. ( 15596620 )
2004
34
Eye movement abnormalities in a case of X-linked dystonia-Parkinsonism (lubag). ( 15179077 )
2004
35
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. ( 12928496 )
2003
36
Zolpidem improves dystonia in &amp;quot;Lubag&amp;quot; or X-linked dystonia-parkinsonism syndrome. ( 11865155 )
2002
37
Phenomenology of &amp;quot;Lubag&amp;quot; or X-linked dystonia-parkinsonism. ( 12465067 )
2002
38
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3). ( 10493831 )
1999
39
AFX1 and p54nrb: fine mapping, genomic structure, and exclusion as candidate genes of X-linked dystonia parkinsonism. ( 9341872 )
1997
40
DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). ( 7829058 )
1994
41
Adductor laryngeal breathing dystonia in a patient with lubag (X-linked dystonia-Parkinsonism syndrome). ( 8041372 )
1994
42
X-Linked Dystonia-Parkinsonism ( 20301662 )
1993
43
Positron emission tomographic findings in Filipino X-linked dystonia-parkinsonism. ( 8338342 )
1993
44
Neuropathology of lubag (x-linked dystonia parkinsonism). ( 8341310 )
1993
45
Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women. ( 8351010 )
1993
46
The X-linked dystonia-parkinsonism syndrome (XDP): clinical and molecular genetic analysis. ( 1364136 )
1992
47
The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. ( 2030641 )
1991
48
Genetic mapping of &amp;quot;Lubag&amp;quot; (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome. ( 1672807 )
1991

Variations for Dystonia 3, Torsion, X-Linked

ClinVar genetic disease variations for Dystonia 3, Torsion, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF1 TAF1, SVA RETROTRANSPOSON INSERTION insertion Pathogenic
2 TAF1 NR_104387.1(TAF1): n.5894C> T single nucleotide variant Pathogenic rs397509359 GRCh37 Chromosome X, 70749635: 70749635
3 TAF1 NR_104387.1(TAF1): n.5894C> T single nucleotide variant Pathogenic rs397509359 GRCh38 Chromosome X, 71529785: 71529785
4 TAF1 NM_004606.4(TAF1): c.4487A> C (p.Asp1496Ala) single nucleotide variant Uncertain significance rs1060499594 GRCh38 Chromosome X, 71421351: 71421351
5 TAF1 NM_004606.4(TAF1): c.4487A> C (p.Asp1496Ala) single nucleotide variant Uncertain significance rs1060499594 GRCh37 Chromosome X, 70641201: 70641201

Expression for Dystonia 3, Torsion, X-Linked

Search GEO for disease gene expression data for Dystonia 3, Torsion, X-Linked.

Pathways for Dystonia 3, Torsion, X-Linked

GO Terms for Dystonia 3, Torsion, X-Linked

Cellular components related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body membrane GO:0032809 8.62 ATP1A3 HPCA

Biological processes related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuromuscular process controlling posture GO:0050884 8.62 GCH1 PNKD

Molecular functions related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.1 ATP1A3 GCH1 HPCA PNKD THAP1 ZMYM3

Sources for Dystonia 3, Torsion, X-Linked

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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