MCID: GNR032
MIFTS: 38

Generalized Dystonia malady

Genetic diseases (common), Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Generalized Dystonia

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Generalized Dystonia, Aliases & Descriptions:

Name: Generalized Dystonia 9 60
Dystonia Musculorum Deformans 9 11 60
Familial Dystonia 9 11 60
Idiopathic Non-Familial Dystonia 9 60
Fragments of Torsion Dystonia 9 60
Symptomatic Torsion Dystonia 9 60
Idiopathic Familial Dystonia 9 60
Dystonia Lenticularis 9 60
 
Non-Familiar Idiopathic Dystonia 9
Symptomatic Torsion Dystonia Nos 9
Dystonia, Deformans Progressiva 9
Dystonia Deformans Progressiva 9
Dystonia 3, Torsion, X-Linked 60
Familiar Idiopathic Dystonia 9
Idiopathic Torsion Dystonia 9
Familiar Dystonia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Muscle diseases


Summaries for Generalized Dystonia

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Disease Ontology:9 A dystonia that affects most or all of the body.

MalaCards based summary: Generalized Dystonia, also known as dystonia musculorum deformans, is related to torsion dystonia and cerebral palsy. An important gene associated with Generalized Dystonia is TAF1 (TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa). The compounds fenton and fe3+ have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and subthalamic nucleus, and related mouse phenotypes are behavior/neurological and homeostasis/metabolism.

Related Diseases for Generalized Dystonia

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Diseases related to Generalized Dystonia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1torsion dystonia32.2TOR1A
2cerebral palsy31.2GCDH, TOR1A
3blepharospasm31.0TOR1A
4ataxia-telangiectasia30.0DRD2, APTX
5dystonia10.8
6cerebritis10.5
7piriformis syndrome10.4
8talipes equinovarus10.4
9spasticity10.4
10dystonia-11, myoclonic10.3DRD2
11eyelid disease10.3TOR1A, THAP1
12schizophrenia10.2
13dyschromatosis symmetrica hereditaria10.2
14essential tremor10.2
15oromandibular dystonia10.2
16cervicitis10.2
17thyrotoxicosis10.2
18dystonia 610.2
19tremor10.2
20focal dystonia10.2DRD2, TOR1A
21dystonia, dopa-responsive, due to sepiapterin reductase deficiency10.1
22dystonia 1610.1
23dystonia 6, torsion10.1
24parkinson disease 1410.1
25dystonia-1210.1
26dystonia-parkinsonism, x-linked10.1
27dystonia 110.1
28dystonia 1310.1
29dystonia 2, torsion, autosomal recessive10.1
30dystonia 7, torsion10.1
31sydenham's chorea10.1
32autosomal dominant focal dystonia, dyt2510.1
33primary dystonia, dyt17 type10.1
34ataxia10.1
35dystonia, juvenile-onset10.0
36dystonia 4, torsion, autosomal dominant10.0
37segawa syndrome, recessive10.0
38sulfite oxidase deficiency10.0
39lateral sclerosis10.0
40cockayne syndrome10.0
41homocystinuria10.0
42gangliosidosis10.0
43methylmalonic acidemia10.0
44scoliosis10.0
45spinocerebellar ataxia10.0
46athetosis10.0
47iron metabolism disease10.0FTL, MT-CYB
48parkinson disease, late-onset10.0TOR1A, MT-CYB, DRD2
49hemochromatosis9.9FTL, MT-CYB
50movement disease9.9DRD2, FTL, TOR1A

Graphical network of the top 20 diseases related to Generalized Dystonia:



Diseases related to generalized dystonia

Symptoms for Generalized Dystonia

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Drugs & Therapeutics for Generalized Dystonia

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Drug clinical trials:

Search ClinicalTrials for Generalized Dystonia

Search NIH Clinical Center for Generalized Dystonia

Genetic Tests for Generalized Dystonia

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Anatomical Context for Generalized Dystonia

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MalaCards organs/tissues related to Generalized Dystonia:

31
Brain, Globus pallidus, Subthalamic nucleus

Animal Models for Generalized Dystonia or affiliated genes

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MGI Mouse Phenotypes related to Generalized Dystonia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.3SLC19A3, GCDH, DRD2, TOR1A, PTS
2MP:00053767.5SLC19A3, PTS, APTX, TOR1A, DRD2, GCDH

Publications for Generalized Dystonia

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Articles related to Generalized Dystonia:

(show all 37)
idTitleAuthorsYear
1
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. (25572163)
2015
2
ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. (24562058)
2014
3
Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia. (23868498)
2014
4
Deep brain stimulation of globus pallidus internus for DYT1 positive primary generalized dystonia. (25250263)
2014
5
Subthalamic nucleus deep brain stimulation after bilateral pallidotomy in the treatment of generalized dystonia. (24126020)
2014
6
Auditory startle reflex and startle reflex to somatosensory inputs in generalized dystonia. (25534494)
2014
7
Striatal cholinergic interneurons in isolated generalized dystonia-rationale and perspectives for stem cell-derived cellular models. (25120431)
2014
8
Tolerance of early pallidal stimulation in pediatric generalized dystonia. (24032990)
2013
9
Isolated generalized dystonia in biallelic missense mutations of the ATM gene. (23640770)
2013
10
Deep Brain Stimulation of the Internal Globus Pallidus for Generalized Dystonia Associated with Spinocerebellar Ataxia Type 1: A Case Report. (23815390)
2013
11
Sustained relief of generalized dystonia despite prolonged interruption of deep brain stimulation. (23400837)
2013
12
The use of harmonic scalpel in spinal surgery with contraindication to the use of monopolar electrocautery: a case report in a 14-year-old girl with a primary generalized dystonia and a 100A^ thoracic scoliosis. (22543430)
2012
13
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. (22777947)
2012
14
Prolonged generalized dystonia after chronic cerebellar application of kainic acid. (22595488)
2012
15
Deep Brain Stimulation of the Globus Pallidus in a 7-Year-Old Girl with DYT1 Generalized Dystonia. (23115674)
2012
16
Stereotactic endoscopic placement of third ventricle catheter for long-term infusion of baclofen in patients with secondary generalized dystonia. (22681318)
2012
17
Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. (21912879)
2012
18
Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation. (21953941)
2012
19
Staged implantation of multiple electrodes in the internal globus pallidus in the treatment of primary generalized dystonia. (22339165)
2012
20
Generalized dystonia in a patient with a novel mutation in the GLUD1 gene. (22730017)
2012
21
Exposure to high dosage trihexyphenidyl during pregnancy for treatment of generalized dystonia: case report and literature review. (22045287)
2011
22
Homozygous THAP1 mutations as cause of early-onset generalized dystonia. (21425335)
2011
23
GPi-pallidal stimulation to treat generalized dystonia in Cockayne syndrome. (20131400)
2010
24
Deep brain stimulation of the globus pallidus for generalized dystonia in GM1 Type 3 gangliosidosis: technical case report. (17277672)
2006
25
Adult-onset generalized dystonia due to a mutation in the neuroferritinopathy gene. (15390032)
2005
26
Pallidal deep brain stimulation for longstanding severe generalized dystonia in Hallervorden-Spatz syndrome. Case report. (15070127)
2004
27
Electrical stimulation of the globus pallidus internus in patients with primary generalized dystonia: long-term results. (15309907)
2004
28
Generalized dystonia and striatal calcifications with lipoid proteinosis. (15596773)
2004
29
Bilateral globus pallidus internus deep brain stimulation therapy for primary generalized dystonia. (15359520)
2004
30
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation. (14534929)
2003
31
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. (12609485)
2003
32
Abnormalities of spatial discrimination in focal and generalized dystonia. (12821512)
2003
33
Severe generalized dystonia induced by metoclopramide in a girl with methylmalonic acidemia. (12581813)
2003
34
6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. (9159737)
1997
35
Marked reduction of striatal dopamine D2 receptors as detected by 123IBZM-SPECT in a Wilson's disease patient with generalized dystonia. (1532631)
1992
36
Two sisters with generalized dystonia associated with homocystinuria. (2057008)
1991
37
Partial cytochrome b deficiency and generalized dystonia. (2073302)
1990

Variations for Generalized Dystonia

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Clinvar genetic disease variations for Generalized Dystonia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TAF1NR_104387.1(TAF1): n.5894C> Tsingle nucleotide variantPathogenicrs397509359GRCh37Chr X, 70749635: 70749635

Expression for genes affiliated with Generalized Dystonia

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Search GEO for disease gene expression data for Generalized Dystonia.

Pathways for genes affiliated with Generalized Dystonia

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Compounds for genes affiliated with Generalized Dystonia

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Sources:
43Novoseek, 12DrugBank, 28IUPHAR, 24HMDB
See all sources

Compounds related to Generalized Dystonia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1fenton439.5FTL, MT-CYB
2fe3+439.4MT-CYB, FTL
3haem439.4MT-CYB, FTL
4levodopa43 1210.3DRD2, PTS
5gtp43 2810.1PTS, TOR1A, MT-CYB
6ascorbic acid43 2410.0PTS, MT-CYB, DRD2
7lysine439.0GCDH, TAF1, PTS
8dopamine43 28 24 1211.9TAF1, DRD2, TOR1A, PTS
9glutamate438.7DRD2, MT-CYB, TOR1A, PTS

GO Terms for genes affiliated with Generalized Dystonia

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Molecular functions related to Generalized Dystonia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.5DRD2, FTL, PTS
2protein bindingGO:00055156.9TAF1, THAP1, ECM1, APTX, TOR1A, FTL

Products for genes affiliated with Generalized Dystonia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Generalized Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet