MCID: CRV043
MIFTS: 31

Cervical Dystonia malady

Neuronal diseases category

Summaries for Cervical Dystonia

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 Cervical dystonia is a focal dystonia characterized by excessive pulling of the muscles of the neck and shoulder resulting in abnormal movements of the head. most commonly, the head turns to one side or the other. tilting sideways, or to the back or front may also occur. the turning or tilting movements may be accompanied by tremor and/or soreness of the muscles of the neck and shoulders. cervical dystonia can occur at any age, although most individuals first experience symptoms in middle age. it often begins slowly and usually reaches a plateau over a few months or years. treatment may include local intramuscular injections of botulinum toxin, analgesics, benzodiazepines (anti-anxiety medications), anticholinergics, physical therapy, or surgery. last updated: 11/9/2011

MalaCards: Cervical Dystonia, also known as spasmodic torticollis, is related to blepharospasm and parkinson's disease. An important gene associated with Cervical Dystonia is DRD5 (dopamine receptor D5), and among its related pathways are Folate biosynthesis and Metabolism of nitric oxide. The compounds dihydroneopterin triphosphate and 4a-hydroxytetrahydrobiopterin have been mentioned in the context of this disorder.

Wikipedia:63 Spasmodic torticollis is an extremely painful chronic neurological movement disorder causing the neck to... more...

Aliases & Classifications for Cervical Dystonia

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Sources:
42NIH Rare Diseases, 60UMLS, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

cervical dystonia 42
spasmodic torticollis 42
dystonia disorders 60


External Ids:

ICD1025 G24.3

Related Diseases for Cervical Dystonia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Cervical Dystonia family:

Dystonia, Primary Cervical

Diseases related to Cervical Dystonia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm30.9DRD5
2parkinson's disease30.6SPR, GCH1, BDNF, TH, APOE
3huntington's disease30.4BDNF
4myasthenia gravis30.2HLA-DQB1
5dementia30.2APOE, TH, BDNF
6migraine30.0DRD5
7multiple system atrophy30.0TH
8alzheimer's disease29.9TH, HLA-DRB1, BDNF, APOE
9multiple sclerosis29.9HLA-DQA1, HLA-DRB1, HLA-DQB1, BDNF, APOE
10cervicitis11.3
11familial dystonia10.5
12essential tremor10.4
13laryngitis10.3
14spinocerebellar ataxia10.3
15cerebritis10.2
16acute cervicitis10.2
17dystonia 2410.2
18torticollis, familial10.2
19focal, segmental or multifocal dystonia10.2
20benign paroxysmal torticollis of infancy10.2
21radiculopathy10.1
22cerebellar ataxia10.1
23chronic cervicitis10.1
24combined cervical dystonia10.1
25osteoporotic fracture10.0
26bruxism10.0
27lateral sclerosis10.0
28ataxia telangiectasia10.0
29hypoparathyroidism10.0
30lateral medullary syndrome10.0
31dentatorubral-pallidoluysian atrophy10.0
32neuronitis10.0
33adult syndrome10.0
34hypermobility syndrome10.0
35amyotrophic lateral sclerosis10.0
36apraxia10.0
37ischemia10.0
38laryngeal carcinoma10.0
39meningioma10.0
40spinal cord ependymoma10.0
41dystonia, primary cervical10.0
42focal dystonia10.0DRD5
43vitiligo10.0GCH1
44encephalomyelitis10.0HLA-DQB1
45addison's disease10.0TH
46tyrosine hydroxylase deficiency10.0TH
47torsion dystonia10.0GCH1
48sudden infant death syndrome10.0TH
49anorexia nervosa10.0BDNF
50glaucoma10.0BDNF

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



Diseases related to cervical dystonia

Clinical Features for Cervical Dystonia

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Drugs & Therapeutics for Cervical Dystonia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cervical Dystonia

Drug clinical trials:

Search ClinicalTrials for Cervical Dystonia

Search NIH Clinical Center for Cervical Dystonia

Search CenterWatch for Cervical Dystonia

Genetic Tests for Cervical Dystonia

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Anatomical Context for Cervical Dystonia

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Animal Models for Cervical Dystonia or affiliated genes

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Publications for Cervical Dystonia

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Genetic Variations for Cervical Dystonia

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Expression for genes affiliated with Cervical Dystonia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cervical Dystonia

Search GEO for disease gene expression data for Cervical Dystonia.

Pathways for genes affiliated with Cervical Dystonia

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database, 55SinoBiological, 52R&D Systems, 51QIAGEN, 12EMD Millipore
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Pathways related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8SPR, GCH1
2
Hide members
9.8SPR, GCH1
3
Hide members
9.2HLA-DQA1, HLA-DQB1, BDNF
49.1HLA-DQB1, HLA-DRB1, HLA-DQA1
59.1HLA-DQA1, HLA-DRB1, HLA-DQB1
6
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
7
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9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
89.1HLA-DQB1, HLA-DRB1, HLA-DQA1
99.1HLA-DQA1, HLA-DRB1, HLA-DQB1
10
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
11
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
129.1HLA-DQB1, HLA-DRB1, HLA-DQA1
139.1HLA-DQA1, HLA-DRB1, HLA-DQB1
149.1HLA-DQA1, HLA-DRB1, HLA-DQB1
15
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
16
Immune response Antigen presentation by MHC class II
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9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
17
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9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
189.1HLA-DQA1, HLA-DRB1, HLA-DQB1
19
Immune response NFAT in immune response
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9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
20
Hide members
9.1HLA-DQA1, HLA-DRB1, HLA-DQB1
21
Immune response ICOS pathway in T-helper cell
Hide members
9.1HLA-DQB1, HLA-DRB1, HLA-DQA1
229.1HLA-DQA1, HLA-DRB1, HLA-DQB1
23
Hide members
8.6HLA-DQA1, HLA-DRB1, HLA-DQB1, BDNF
24
Hide members
8.1TH, HLA-DQA1, HLA-DRB1, HLA-DQB1, BDNF

Compounds for genes affiliated with Cervical Dystonia

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Sources:
44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1dihydroneopterin triphosphate44 2411.2SPR, GCH1
24a-hydroxytetrahydrobiopterin44 2411.0GCH1, TH
3methylphenidate44 49 1112.0DRD5, TH
4pterin44 2411.0TH, SPR
5dpa 1449.9HLA-DQA1, HLA-DRB1
63-nitropropionic acid449.8BDNF, TH
7dopac449.8TH, BDNF
8mhpg449.8TH, BDNF
96-pyruvoyltetrahydropterin449.8SPR, TH, GCH1
10dihydropteridine44 2410.8GCH1, TH, SPR
11dihydrobiopterin44 2410.8GCH1, TH, SPR
12pteridine449.8GCH1, TH, SPR
13sepiapterin44 2410.8SPR, TH, GCH1
14tetrahydrobiopterin44 11 2411.8GCH1, TH, SPR
15maoa449.7BDNF, TH
16ketanserin28 4410.7DRD5, BDNF
17homovanillic acid44 2410.7BDNF, TH
18lapatinib44 49 1111.7HLA-DQA1, HLA-DRB1
19l-amino acid449.6TH, GCH1
20melatonin44 59 28 11 2413.6SPR, BDNF, GCH1
21pramipexole44 49 28 1112.6TH, DRD5, BDNF
22quetiapine44 49 28 11 2413.6BDNF, DRD5, TH
23glatiramer acetate44 1110.6BDNF, HLA-DRB1
241 methyl 4 phenylpyridinium449.6TH, BDNF
25clozapine44 28 49 1112.6TH, DRD5, BDNF
26h2o2449.5TH, GCH1
27haloperidol44 28 2 49 1113.5BDNF, DRD5, TH
28amino acid449.5HLA-DRB1, BDNF
29cdp choline449.5TH, APOE
30mptp449.5GCH1, BDNF, TH
31cysteamine44 11 2411.4BDNF, APOE
32levodopa44 1110.3GCH1, BDNF, DRD5, TH
33catecholamine449.3GCH1, BDNF, DRD5, TH
34olanzapine49 44 28 11 2413.2DRD5, APOE, BDNF
35phenylalanine449.2GCH1, BDNF, TH, SPR
36selegiline44 1110.2TH, BDNF
37tetrodotoxin44 59 2811.0TH, APOE, BDNF
38kainate44 2810.0TH, APOE, BDNF
39ibmx44 28 5911.0BDNF, APOE, TH
40norepinephrine44 11 2411.0SPR, TH, DRD5, BDNF, GCH1
41valine448.5BDNF, APOE, HLA-DRB1
42aspartate448.3TH, HLA-DQA1, HLA-DQB1, APOE, BDNF
43dopamine44 28 11 2411.2GCH1, BDNF, APOE, DRD5, TH, SPR
44tyrosine447.9GCH1, BDNF, DRD5, HLA-DQB1, HLA-DRB1, TH

GO Terms for genes affiliated with Cervical Dystonia

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Sources:
16Gene Ontology
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Cellular components related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:0426139.3HLA-DQA1, HLA-DRB1, HLA-DQB1
2clathrin-coated endocytic vesicle membraneGO:0306699.2HLA-DQA1, HLA-DRB1, HLA-DQB1
3integral to lumenal side of endoplasmic reticulum membraneGO:0715569.2HLA-DQB1, HLA-DRB1, HLA-DQA1
4transport vesicle membraneGO:0306589.2HLA-DQB1, HLA-DRB1, HLA-DQA1
5ER to Golgi transport vesicle membraneGO:0125079.1HLA-DQB1, HLA-DRB1, HLA-DQA1
6lysosomal membraneGO:0057659.1HLA-DQA1, HLA-DRB1, HLA-DQB1
7trans-Golgi network membraneGO:0325889.0HLA-DQA1, HLA-DRB1, HLA-DQB1
8endocytic vesicle membraneGO:0306668.8HLA-DQB1, HLA-DRB1, HLA-DQA1

Biological processes related to Cervical Dystonia according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrobiopterin biosynthetic processGO:00672910.1GCH1, SPR
2nitric oxide biosynthetic processGO:00680910.0SPR, GCH1
3synaptic transmission, dopaminergicGO:0019639.9TH, DRD5
4nitric oxide metabolic processGO:0462099.9GCH1, SPR
5dopamine biosynthetic processGO:0424169.9GCH1, TH
6regulation of nitric-oxide synthase activityGO:0509999.8SPR, GCH1
7immunoglobulin production involved in immunoglobulin mediated immune responseGO:0023819.7HLA-DQB1, HLA-DRB1
8negative regulation of blood pressureGO:0457769.7GCH1, DRD5
9humoral immune response mediated by circulating immunoglobulinGO:0024559.7HLA-DRB1, HLA-DQB1
10response to amphetamineGO:0019759.4TH, DRD5
11positive regulation of nitric-oxide synthase activityGO:0510009.4APOE, GCH1
12interferon-gamma-mediated signaling pathwayGO:0603339.4HLA-DQA1, HLA-DRB1, HLA-DQB1
13T cell costimulationGO:0312959.4HLA-DQA1, HLA-DRB1, HLA-DQB1
14T cell receptor signaling pathwayGO:0508529.4HLA-DQB1, HLA-DRB1, HLA-DQA1
15vasodilationGO:0423119.3GCH1, APOE
16antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:0198869.3HLA-DQA1, HLA-DRB1, HLA-DQB1
17cytokine-mediated signaling pathwayGO:0192219.1HLA-DQA1, HLA-DRB1, HLA-DQB1

Molecular functions related to Cervical Dystonia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dopamine bindingGO:0352409.7TH, DRD5
2MHC class II receptor activityGO:0323958.8HLA-DQA1, HLA-DRB1, HLA-DQB1

Products for genes affiliated with Cervical Dystonia

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  • Antibodies
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Sources for Cervical Dystonia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet