DYT3
MCID: DYS064
MIFTS: 47

Dystonia 3, Torsion, X-Linked (DYT3)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare 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 24 25 59 75
Lubag 24 25 59 75
Xdp 57 25 59 75
Dystonia-Parkinsonism, X-Linked 57 25 13
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
Dyt-Taf1 24

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

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 early-onset generalized dystonia and dystonia 1, torsion, autosomal dominant, and has symptoms including tremor, myoclonus and dystonia. 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, brain and eye, and related phenotypes are chorea and myoclonus

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.

Wikipedia : 76 X-linked dystonia parkinsonism (XDP), also known as Lubag Syndrome or X-linked Dystonia of Panay, is a... more...

Description from OMIM: 314250
GeneReviews: NBK1489

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

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


tremor, myoclonus, dystonia, 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 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, Brain, Eye, Tongue, Testes, Globus Pallidus, Bone

Publications for Dystonia 3, Torsion, X-Linked

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

(show top 50) (show all 64)
# Title Authors Year
1
Eye movement deficits in X-linked dystonia-parkinsonism are related to striatal degeneration. ( 30352750 )
2018
2
Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics. ( 30374324 )
2018
3
Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia Parkinsonism. ( 30508028 )
2018
4
Corrigendum: Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics. ( 30519214 )
2018
5
Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. ( 30153385 )
2018
6
An integrated OMICS approach unravels the elusive genetic cause of X-linked dystonia-parkinsonism. ( 30153393 )
2018
7
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism. ( 30169601 )
2018
8
Long-term outcomes of pallidal deep brain stimulation in X-linked dystonia parkinsonism (XDP): Up to 84 months follow-up and review of literature. ( 30262378 )
2018
9
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. ( 29474918 )
2018
10
Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. ( 29527488 )
2018
11
Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. ( 28094105 )
2017
12
Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism. ( 28059473 )
2017
13
The Basal Ganglia Striosomes Affect the Modulation of Conflicts by Subliminal Information-Evidence from X-Linked Dystonia Parkinsonism. ( 28505262 )
2017
14
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1. ( 29229810 )
2017
15
Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. ( 28236370 )
2017
16
Clinicopathological Phenotype and Genetics of X-Linked Dystonia-Parkinsonism (XDP; DYT3; Lubag). ( 28672841 )
2017
17
Validation of the XDP-MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism. ( 28761929 )
2017
18
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B. ( 28017799 )
2016
19
Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism. ( 26879577 )
2016
20
Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. ( 26769797 )
2016
21
Neuroanatomical changes extend beyond striatal atrophy in X-linked dystonia parkinsonism. ( 27481033 )
2016
22
Neurophysiological fingerprints of X-linked dystonia-parkinsonism: A model basal ganglia disease. ( 25914216 )
2015
23
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). ( 25604858 )
2015
24
Biochemical mechanisms of pallidal deep brain stimulation in X-linked dystonia parkinsonism. ( 26093890 )
2015
25
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
26
Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism. ( 23435702 )
2013
27
Defects in the striatal neuropeptide Y system in X-linked dystonia-parkinsonism. ( 23599389 )
2013
28
Bilateral Pallidal Deep Brain Stimulation for X-linked Dystonia Parkinsonism. ( 24076056 )
2013
29
Anesthesia for deep brain stimulation in a patient with X-linked dystonia-parkinsonism/Lubag disease. ( 23614923 )
2013
30
X-linked Dystonia-Parkinsonism manifesting in a female patient due to atypical turner syndrome. ( 23389859 )
2013
31
Pathological gambling in x-linked dystonia parkinsonism. ( 23629417 )
2013
32
Depression in X-linked dystonia-parkinsonism: a case-control study. ( 23706616 )
2013
33
Impulse control disorder in a patient with X-linked dystonia-parkinsonism after bilateral pallidal deep brain stimulation. ( 23920134 )
2013
34
The promise of deep brain stimulation in X-linked dystonia parkinsonism. ( 21244299 )
2011
35
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
36
Oral pharmacological treatment of X-linked dystonia parkinsonism: successes and failures. ( 21244304 )
2011
37
Pre- and post- GPi DBS neuropsychological profiles in a case of X-linked dystonia-Parkinsonism. ( 21253963 )
2011
38
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
39
X-linked dystonia parkinsonism: clinical phenotype, genetics and therapeutics. ( 24868378 )
2010
40
Bilateral pallidal stimulation for x-linked dystonia parkinsonism. ( 20697054 )
2010
41
Differential response of dystonia and parkinsonism following globus pallidus internus deep brain stimulation in X-linked dystonia-parkinsonism (Lubag). ( 20714213 )
2010
42
Neuropsychological profile of a Filipino gentleman with X-linked dystonia-parkinsonism: a case report of Lubag disease. ( 18609312 )
2009
43
Nigrostriatal dysfunction in X-linked dystonia-parkinsonism (DYT3). ( 17377924 )
2007
44
The TAF1/DYT3 multiple transcript system in X-linked dystonia-parkinsonism. ( 17668393 )
2007
45
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. ( 17273961 )
2007
46
First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation. ( 17579361 )
2007
47
First case report of X linked dystonia parkinsonism (XDP) or 'lubag' in Australia. ( 16242937 )
2005
48
Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. ( 15465396 )
2004
49
Phenotypic and molecular analyses of X-linked dystonia-parkinsonism (&amp;quot;lubag&amp;quot;) in women. ( 15596620 )
2004
50
Eye movement abnormalities in a case of X-linked dystonia-Parkinsonism (lubag). ( 15179077 )
2004

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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