MCID: DYS171
MIFTS: 34

Dystonia-Parkinsonism, X-Linked

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

Aliases & Classifications for Dystonia-Parkinsonism, X-Linked

MalaCards integrated aliases for Dystonia-Parkinsonism, X-Linked:

Name: Dystonia-Parkinsonism, X-Linked 54 25 13
X-Linked Dystonia-Parkinsonism 12 23 25 56 71 14
Dystonia 3, Torsion, X-Linked 25 71 29 69
Lubag 23 25 56 71
Dyt3 23 25 56 71
Xdp 25 56 71
Dystonia Musculorum Deformans 25 69
X-Linked Torsion Dystonia-Parkinsonism Syndrome 25
Torsion Dystonia-Parkinsonism, Filipino Type 25
Torsion Dystonia-Parkinsonism Filipino Type 71
X-Linked Dystonia-Parkinsonism Syndrome 25
X-Linked Torsion Dystonia 3 71
Lubag Syndrome 56
Dystonia-3 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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-parkinsonism, x-linked:
Onset and clinical course adult onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 314250
Disease Ontology 12 DOID:0090057
ICD10 33 G24.1
Orphanet 56 ORPHA53351
UMLS via Orphanet 70 C1839130
ICD10 via Orphanet 34 G24.1
MedGen 40 C1839130
MeSH 42 D004421

Summaries for Dystonia-Parkinsonism, X-Linked

UniProtKB/Swiss-Prot : 71 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-Parkinsonism, X-Linked, also known as x-linked dystonia-parkinsonism, is related to x-linked dystonia-parkinsonism/lubag and dystonia-12, and has symptoms including chorea, myoclonus and tremor. An important gene associated with Dystonia-Parkinsonism, 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 and eye.

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.

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.

Description from OMIM: 314250
GeneReviews: NBK1489

Related Diseases for Dystonia-Parkinsonism, X-Linked

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



Diseases related to Dystonia-Parkinsonism, X-Linked

Symptoms & Phenotypes for Dystonia-Parkinsonism, X-Linked

Symptoms via clinical synopsis from OMIM:

54

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-Parkinsonism, X-Linked:

32
id Description HPO Frequency HPO Source Accession
1 chorea 32 HP:0002072
2 myoclonus 32 HP:0001336
3 tremor 32 HP:0001337
4 torsion dystonia 32 HP:0001304
5 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548

UMLS symptoms related to Dystonia-Parkinsonism, X-Linked:


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

Drugs & Therapeutics for Dystonia-Parkinsonism, X-Linked

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mung bean Approved, Nutraceutical

Interventional clinical trials:


id 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

Search NIH Clinical Center for Dystonia-Parkinsonism, X-Linked

Genetic Tests for Dystonia-Parkinsonism, X-Linked

Genetic tests related to Dystonia-Parkinsonism, X-Linked:

id Genetic test Affiliating Genes
1 Dystonia 3, Torsion, X-Linked 29
2 X-Linked Dystonia-Parkinsonism Syndrome 24 TAF1

Anatomical Context for Dystonia-Parkinsonism, X-Linked

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

39
Caudate Nucleus, Eye

Publications for Dystonia-Parkinsonism, X-Linked

Variations for Dystonia-Parkinsonism, X-Linked

ClinVar genetic disease variations for Dystonia-Parkinsonism, X-Linked:

6
id 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

Expression for Dystonia-Parkinsonism, X-Linked

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

Pathways for Dystonia-Parkinsonism, X-Linked

GO Terms for Dystonia-Parkinsonism, X-Linked

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

id Name GO ID Score Top Affiliating Genes
1 neuronal cell body membrane GO:0032809 8.96 ATP1A3 HPCA
2 dendritic spine head GO:0044327 8.62 ATP1A3 HPCA

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

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

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

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

Sources for Dystonia-Parkinsonism, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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