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MCID: DYS064
MIFTS: 43
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Dystonia 3, Torsion, X-Linked
Categories:
Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases
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MalaCards integrated aliases for Dystonia 3, Torsion, X-Linked:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
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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
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:314250Human phenotypes related to Dystonia 3, Torsion, X-Linked:59 32 (show all 20)
UMLS symptoms related to Dystonia 3, Torsion, X-Linked:dystonia, myoclonus, torticollis, dystonia, paroxysmal, dystonia, limb |
Drugs for Dystonia 3, Torsion, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Dystonia 3, Torsion, X-Linked:41
Caudate Nucleus,
Eye,
Tongue,
Brain,
Testes,
Globus Pallidus
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Articles related to Dystonia 3, Torsion, X-Linked:(show all 48)
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Genes related to Dystonia 3, Torsion, X-Linked (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Dystonia 3, Torsion, X-Linked:6
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Search
GEO
for disease gene expression data for Dystonia 3, Torsion, X-Linked.
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Cellular components related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:
Biological processes related to Dystonia 3, Torsion, X-Linked according to GeneCards Suite gene sharing:
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