MCID: MLT132
MIFTS: 21

Multifocal Dystonia

Categories: Neuronal diseases

Aliases & Classifications for Multifocal Dystonia

MalaCards integrated aliases for Multifocal Dystonia:

Name: Multifocal Dystonia 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050837

Summaries for Multifocal Dystonia

Disease Ontology : 12 A dystonia that involves two or more unrelated body parts.

MalaCards based summary : Multifocal Dystonia is related to dystonia 23 and dystonia 25. An important gene associated with Multifocal Dystonia is THAP1 (THAP Domain Containing 1), and among its related pathways/superpathways is Folate biosynthesis. Affiliated tissues include brain and globus pallidus, and related phenotypes are Decreased homologous recombination repair frequency and Decreased homologous recombination repair frequency

Related Diseases for Multifocal Dystonia

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 dystonia 23 31.7 CIZ1 ANO3
2 dystonia 25 30.9 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
3 hemidystonia 28.6 TOR1A THAP1 TAF1L TAF1 SPR SGCE
4 dystonia 26.9 TOR1A THAP1 TAF1 SPR SGCE PRKRA
5 dystonia, focal, task-specific 11.3
6 dystonia 16 11.0
7 spasmodic dysphonia 10.3 TOR1A THAP1
8 cranio-facial dystonia 10.3 TOR1A THAP1
9 spastic monoplegia 10.2 TOR1A HPCA
10 dystonia 6, torsion 10.2 THAP1 CIZ1
11 leber optic atrophy and dystonia 10.2 SGCE GCH1
12 hereditary dystonia 10.1 THAP1 GCH1 ANO3
13 neurodegeneration with brain iron accumulation 10.1 TOR1A THAP1 ATP1A3
14 hyperphenylalaninemia, bh4-deficient, a 10.0 SPR GCH1
15 oculogyric crisis 10.0 SPR GCH1 ATP1A3
16 tetrahydrobiopterin deficiency 9.9 SPR GCH1
17 dystonia 24 9.9 THAP1 HPCA GNAL ANO3
18 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 9.9 SPR GCH1
19 spinocerebellar ataxia, autosomal recessive 14 9.9 CACNA1A ATP1A3
20 dystonia 27 9.8 HPCA GNAL CIZ1 ANO3
21 migraine, familial hemiplegic, 2 9.8 CACNA1A ATP1A3
22 basal ganglia disease 9.8 THAP1 MYORG GYPE
23 torticollis 9.8 TOR1A CIZ1 CACNA1A
24 aromatic l-amino acid decarboxylase deficiency 9.8 SPR GCH1
25 hereditary lymphedema ii 9.7 TOR1A THAP1 TAF1L TAF1 SGCE
26 lymphatic malformation 5 9.7 TOR1A THAP1 TAF1L TAF1 SGCE
27 isolated dystonia 9.7 TOR1A THAP1 HPCA GNAL GCH1 ANO3
28 torsion dystonia 2 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
29 torsion dystonia 4 9.6 TOR1A THAP1 HPCA GNAL CIZ1 ANO3
30 dystonia 11, myoclonic 9.6 TOR1A THAP1 SGCE GNAL GCH1 ATP1A3
31 focal hand dystonia 9.5 TOR1A THAP1 SGCE GYPE GNAL ANO3
32 dystonia 1, torsion, autosomal dominant 9.5 TOR1A THAP1 SGCE HPCA GNAL CIZ1
33 benign familial infantile epilepsy 9.5 THAP1 CIZ1 CACNA1A ATP1A3 ANO3
34 oromandibular dystonia 9.4 TOR1A THAP1 SGCE GNAL GCH1 CIZ1
35 cervical dystonia 9.1 TOR1A THAP1 SPR SGCE PRKRA GNAL
36 dystonia 3, torsion, x-linked 9.1 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
37 spasmodic dystonia 9.0 TOR1A THAP1 SGCE PRKRA HPCA GNAL
38 parkinson disease, late-onset 9.0 TOR1A TAF1L TAF1 SPR GCH1 CACNA1A
39 dystonia, dopa-responsive 9.0 TOR1A THAP1 TAF1L TAF1 SPR SGCE
40 choreatic disease 8.9 TOR1A THAP1 SGCE GYPE GNAL GCH1
41 blepharospasm 8.9 TOR1A THAP1 TAF1L TAF1 SGCE GNAL
42 alternating hemiplegia of childhood 8.9 THAP1 TAF1 SGCE PRKRA GNAL CIZ1
43 disease of mental health 8.7 TOR1A TAF1 SPR SGCE GYPE GCH1
44 segmental dystonia 8.6 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
45 focal dystonia 8.4 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
46 dystonia 12 8.1 TOR1A THAP1 TAF1L TAF1 SGCE PRKRA
47 movement disease 7.5 TOR1A THAP1 TAF1L TAF1 SPR SGCE

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



Diseases related to Multifocal Dystonia

Symptoms & Phenotypes for Multifocal Dystonia

GenomeRNAi Phenotypes related to Multifocal Dystonia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 8.62 MYORG
2 Decreased homologous recombination repair frequency GR00236-A-1 8.62 MYORG

MGI Mouse Phenotypes related to Multifocal Dystonia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.36 ATP1A3 CACNA1A CIZ1 GCH1 GNAL HPCA

Drugs & Therapeutics for Multifocal Dystonia

Search Clinical Trials , NIH Clinical Center for Multifocal Dystonia

Genetic Tests for Multifocal Dystonia

Anatomical Context for Multifocal Dystonia

MalaCards organs/tissues related to Multifocal Dystonia:

40
Brain, Globus Pallidus

Publications for Multifocal Dystonia

Articles related to Multifocal Dystonia:

(show all 35)
# Title Authors PMID Year
1
Dystonia assessment in children with cerebral palsy and periventricular leukomalacia. 61
33743389 2021
2
Mutation screening of VPS16 gene in patients with isolated dystonia. 61
33482438 2021
3
Idiopathic Non-task-Specific Upper Limb Dystonia, a Neglected Form of Dystonia. 61
32662572 2020
4
Brain hypoperfusion and nigrostriatal dopaminergic dysfunction in primary familial brain calcification caused by novel MYORG variants: case report. 61
32873236 2020
5
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. 61
31628766 2020
6
Dystonia in RNA Polymerase III-Related Leukodystrophy. 61
30838315 2019
7
Epidemiological and clinical aspects of a sample of Brazilian patients with primary dystonia and the impact of the new classification on their clinical evaluation. 61
30698205 2018
8
Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia. 61
29264396 2017
9
Tremor in Dystonia: A Cross-sectional Study from India. 61
30868097 2017
10
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. 61
27111573 2016
11
Rest tremor in idiopathic adult-onset dystonia. 61
26916971 2016
12
Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia. 61
26745717 2016
13
Multifocal dystonia as a manifestation of acute midbrain infarction. 61
26164537 2015
14
Ocular palatal tremor plus dystonia - new syndromic association. 61
26889496 2015
15
Rest and other types of tremor in adult-onset primary dystonia. 61
24249781 2014
16
Vanishing white matter disease presenting as opsoclonus myoclonus syndrome in childhood--a case report and review of the literature. 61
24938145 2014
17
A new familial syndrome with dystonia and lower limb action myoclonus. 61
21370267 2011
18
Clinical phenomenology of dystonia. 61
21907098 2011
19
High frequency of multiexonic deletion of the GCH1 gene in a Taiwanese cohort of dopa-response dystonia. 61
20082337 2010
20
Effect of Globus Pallidus internus stimulation on gait in multifocal dystonia: a case study. 61
20005162 2010
21
Lower limb involvement in adult-onset primary dystonia: frequency and clinical features. 61
19765051 2010
22
High-throughput mutational analysis of TOR1A in primary dystonia. 61
19284587 2009
23
Intrafamilial phenotypic and genetic heterogeneity of dystonia. 61
17027035 2006
24
Muscle relaxation is impaired in dystonia: a reaction time study. 61
15197708 2004
25
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia. 61
12975293 2003
26
Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene. 61
12805099 2003
27
DYT1 mutation in primary torsion dystonia in a Serbian population. 61
11757956 2001
28
Dystonia in Wilson's disease. 61
11481698 2001
29
Evaluation and treatment of dystonia. 61
10963502 2000
30
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. 61
10519867 1999
31
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. 61
10435508 1999
32
The EBD test--a clinical test for the detection of antibodies to botulinum toxin type A. 61
8990060 1997
33
Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways. 61
8011802 1994
34
A case of periodic sweating associated with a subarachnoid cyst and multifocal dystonia. 61
8124061 1993
35
Stridor and focal laryngeal dystonia. 61
1346820 1992

Variations for Multifocal Dystonia

Expression for Multifocal Dystonia

Search GEO for disease gene expression data for Multifocal Dystonia.

Pathways for Multifocal Dystonia

Pathways related to Multifocal Dystonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.09 SPR GCH1

GO Terms for Multifocal Dystonia

Cellular components related to Multifocal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite membrane GO:0032590 8.96 SGCE HPCA
2 neuronal cell body membrane GO:0032809 8.62 HPCA ATP1A3

Biological processes related to Multifocal Dystonia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II preinitiation complex assembly GO:0051123 9.16 TAF1L TAF1
2 nitric oxide biosynthetic process GO:0006809 8.96 SPR GCH1
3 tetrahydrobiopterin biosynthetic process GO:0006729 8.62 SPR GCH1

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

# Name GO ID Score Top Affiliating Genes
1 TBP-class protein binding GO:0017025 8.96 TAF1L TAF1
2 lysine-acetylated histone binding GO:0070577 8.62 TAF1L TAF1

Sources for Multifocal Dystonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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