MCID: TRT019
MIFTS: 46

Torticollis

Categories: Rare diseases, Muscle diseases, Genetic diseases

Aliases & Classifications for Torticollis

MalaCards integrated aliases for Torticollis:

Name: Torticollis 57 76 29 6

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? same as dystonia musculorum


HPO:

32
torticollis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 189600
MedGen 42 C0040485
ICD10 33 M43.6

Summaries for Torticollis

OMIM : 57 Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997). (189600)

MalaCards based summary : Torticollis is related to cervical dystonia and dystonia 11, myoclonic. An important gene associated with Torticollis is SCP2 (Sterol Carrier Protein 2), and among its related pathways/superpathways is Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). The drugs Acetylcholine and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include brain, prostate and spinal cord, and related phenotypes are facial asymmetry and torticollis

Wikipedia : 76 Torticollis, also known as wry neck, is a dystonic condition defined by an abnormal, asymmetrical head... more...

Related Diseases for Torticollis

Diseases in the Torticollis family:

Congenital Torticollis Torticollis, Familial

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 cervical dystonia 33.3 CIZ1 TOR1A
2 dystonia 11, myoclonic 31.1 DRD2 TOR1A
3 hemiplegic migraine 29.2 CACNA1A PRRT2
4 episodic ataxia 28.8 CACNA1A PRRT2
5 focal dystonia 28.7 CIZ1 DRD2 TOR1A
6 dystonia 27.6 CIZ1 DRD2 PRRT2 SCP2 TOR1A
7 congenital torticollis 12.1
8 malignant hyperthermia arthrogryposis torticollis 12.1
9 benign paroxysmal torticollis of infancy 12.1
10 torticollis, keloids, cryptorchidism, and renal dysplasia 12.1
11 torticollis, familial 12.1
12 contractures, congenital, torticollis, and malignant hyperthermia 11.9
13 leukoencephalopathy with dystonia and motor neuropathy 11.0
14 dystonia 4, torsion, autosomal dominant 10.9
15 bethlem myopathy 1 10.9
16 spinocerebellar ataxia 35 10.9
17 torsion dystonia 17 10.9
18 cervicitis 10.3
19 wheat allergy 10.3 SCP2 TOR1A
20 plagiocephaly 10.3
21 segmental dystonia 10.2 CIZ1 TOR1A
22 blepharospasm 10.2
23 spinocerebellar ataxia 31 10.1 CACNA1A TGM6
24 autoimmune disease of gastrointestinal tract 10.1 TGM6 TOR1A
25 familial or sporadic hemiplegic migraine 10.1 CACNA1A PRRT2
26 hemifacial spasm 10.0
27 scoliosis 9.9
28 tremor 9.9
29 hemifacial hyperplasia 9.9
30 sandifer syndrome 9.9
31 dystonia, dopa-responsive 9.8 PRRT2 TOR1A
32 strabismus 9.8
33 intracranial hypertension, idiopathic 9.8
34 odontoid hypoplasia 9.8
35 craniosynostosis 9.8
36 keloids 9.8
37 astrocytoma 9.8
38 spinal cord astrocytoma 9.8
39 essential tremor 9.8
40 congenital nystagmus 9.8
41 fibromatosis 9.8
42 renal dysplasia 9.8
43 migraine without aura 9.7 CACNA1A DRD2
44 multiple sclerosis 9.6
45 systemic lupus erythematosus 9.6
46 otitis media 9.6
47 rheumatoid arthritis 9.6
48 cerebellar hypoplasia 9.6
49 wildervanck syndrome 9.6
50 aging 9.6

Graphical network of the top 20 diseases related to Torticollis:



Diseases related to Torticollis

Symptoms & Phenotypes for Torticollis

Symptoms via clinical synopsis from OMIM:

57
Neck:
torticollis

Facies:
facial asymmetry


Clinical features from OMIM:

189600

Human phenotypes related to Torticollis:

32
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 32 HP:0000324
2 torticollis 32 HP:0000473

MGI Mouse Phenotypes related to Torticollis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 CACNA1A CIZ1 DRD2 PRRT2 SCP2 TOR1A

Drugs & Therapeutics for Torticollis

Drugs for Torticollis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 51-84-3 187
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Ibuprofen Approved Phase 4 15687-27-1 3672
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
6 abobotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
7 Botulinum Toxins Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
8 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
9 Cholinergic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
10 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
11 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
12 onabotulinumtoxinA Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
13 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Analgesics Phase 4,Phase 2
15 Analgesics, Non-Narcotic Phase 4,Phase 2
16 Adjuvants, Anesthesia Phase 4
17 Analgesics, Opioid Phase 4
18 Anesthetics Phase 4,Phase 1,Phase 2
19 Anesthetics, General Phase 4
20 Anesthetics, Intravenous Phase 4
21 Anti-Inflammatory Agents Phase 4,Not Applicable
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4
23 Antirheumatic Agents Phase 4
24 Central Nervous System Depressants Phase 4
25 Cyclooxygenase Inhibitors Phase 4
26 Narcotics Phase 4
27 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
28 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
29 rimabotulinumtoxinB Phase 4,Phase 2
30
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
31
Amlodipine Approved Phase 2 88150-42-9 2162
32 Etiracetam Investigational Phase 2 33996-58-6
33 Cannabinoid Receptor Agonists Phase 2
34 Hallucinogens Phase 2
35 Hormone Antagonists Phase 2
36 Hormones Phase 2
37 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
38 Psychotropic Drugs Phase 2
39 Antihypertensive Agents Phase 2
40 calcium channel blockers Phase 2
41 Calcium, Dietary Phase 2
42 Vasodilator Agents Phase 2
43 Anticonvulsants Phase 2
44 Nootropic Agents Phase 2
45 Fibrin Tissue Adhesive Phase 1
46
Hydrocortisone Approved, Vet_approved Not Applicable 50-23-7 5754
47
Trihexyphenidyl Approved 58947-95-8, 144-11-6 5572
48
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
49
Cortisone acetate Approved, Investigational Not Applicable 1950-04-4, 50-04-4 5745
50
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741

Interventional clinical trials:

(show top 50) (show all 109)
# Name Status NCT ID Phase Drugs
1 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4 Nuronox
2 Ultrasound Guided Intermediate Cervical Plexus Block for Congenital Muscular Torticollis Completed NCT02651311 Phase 4 Fentanyl;Ibuprofen
3 Effect of Botulinum Toxin Type A on Swallowing in Patients With Cervical Dystonia Completed NCT01384214 Phase 4
4 Comparison of Efficacy and Safety of Two Different Types of Botulinum Toxin Type A in Moderate to Severe Cervical Dystonia Completed NCT00528541 Phase 4
5 Botox for Cervical Dystonia Following EMG Mapping Completed NCT00773253 Phase 4 Botulinum toxin A
6 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
7 Daily Dystonia Practice - A Trial to Investigate NT 201, the Duration of Treatment Effect After One Injection Session and in Long-term Treatment in Cervical Dystonia Completed NCT00541905 Phase 4 NT 201
8 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
9 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
10 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
11 An Open Label Safety and Immunogenicity Study of MYOBLOC (Neurobloc; Botulinum Toxin Type B) Injectable Solution in Patients With Cervical Dystonia Completed NCT00702754 Phase 4
12 Global Performance Evaluation of the AMS CONTINUUM™ Device Completed NCT01083199 Phase 4
13 A Long-Term Study Examining the Treatment of Benign Prostatic Hyperplasia With Photoselective Vaporization Completed NCT00465101 Phase 4
14 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Recruiting NCT02618889 Phase 4
15 Efficacy and Safety of Two Different Botulinum Toxin Type A Treatments for Moderate to Severe Cervical Dystonia Terminated NCT00432341 Phase 4
16 Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy Terminated NCT01365143 Phase 4
17 Open-label Extension Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00288509 Phase 3 abobotulinumtoxinA (Dysport) 250-1000 units
18 Double-blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
19 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Botulinum type A toxin (Dysport®);Placebo
20 Study Comparing Short Term Efficacy of Dysport® and Dysport RU® to Placebo, and to Assess Efficacy and Safety of Dysport RU® of Subjects With Cervical Dystonia Completed NCT01261611 Phase 3 Botulinum type A toxin (Dysport RU®);Botulinum type A toxin (Dysport®);Placebo
21 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
22 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
23 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
24 Prospective Randomized Trial of Seminal Vesicle-Sparing Prostatectomy and Nerve-Sparing Radical Prostatectomy in Men With Clinically Localized Prostate Cancer Completed NCT01825642 Phase 2, Phase 3
25 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®
26 Meditoxin® Treatment in Patients With Cervical Dystonia Recruiting NCT03232320 Phase 3 Meditoxin;Placebo
27 Efficacy of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
28 ASIS for Botox in Cervical Dystonia Unknown status NCT02074293 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Botox intramuscularly at Week 6;Efficacy of Botox intramuscularly at Week 12;Efficacy of Botox intramuscularly at Week 18;Efficacy of Botox intramuscularly at Week 24;Efficacy of Botox intramuscularly at Week 30;Efficacy of Botox subdermally at Week 6;Efficacy of Botox subdermally at Week 12;Efficacy of Botox subdermally at Week 18;Efficacy of Botox subdermally at Week 24;Efficacy of Botox subdermally at Week 30;Adverse Reactions of Botox intramuscularly;Adverse Reactions of Botox subdermally
29 Randomized, Double-Blind, Placebo-Controlled, Parallel, Group Dose-Response, Study of E2014 in Patients WIth Spasmodic Torticollis Completed NCT00165776 Phase 2 BOTULINUM TOXIN TYPE B
30 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
31 Effect of Type-A Botulinum Toxin in the Post-radiosurgical Neck Contractures Completed NCT02986880 Phase 2 Botulinum toxin A
32 An Electrophysiological Study Of E2014 In Healthy Adult Male Japanese And Caucasian Subjects Completed NCT00280384 Phase 2 E2014 (Botulinum toxin type B);E2014 (Botulinum toxin type B) Placebo
33 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
34 Amlodipine Plus Botulinum Toxin for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
35 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
36 Botulinum Toxin Type A (Botox) for the Treatment of Cervical Dystonia and Upper Thoracic Muscular Pain Completed NCT00178945 Phase 1, Phase 2 Botulinum Toxin Type A
37 Safety and Tolerability of Perampanel in Cervical Dystonia Recruiting NCT02131467 Phase 1, Phase 2 Perampanel
38 Clinical and Kinematic Assessment for Determination of Botox® Injection Parameters in Cervical Dystonia Recruiting NCT02662530 Phase 2 Botulinum Toxin Type A
39 Effectiveness and Safety of Adipose-derived Regenerative Cells for Reduction of Risk of Bladder Neck Contracture Enrolling by invitation NCT02869061 Phase 1, Phase 2
40 Keppra for Cervical Dystonia Suspended NCT00760318 Phase 2 Keppra
41 Botulinum Toxin Injection Efficiency Unknown status NCT01041157 Phase 1
42 PurTox (Botulinum Toxin Type A) for the Treatment of Adult Onset Spasmodic Torticollis/Cervical Dystonia Completed NCT00549341 Phase 1 Mentor Purified Toxin, Botulinum Toxn Type A, Purified Neurotoxin
43 Deep Brain Stimulation to Treat Cervical Dystonia Completed NCT00132340 Phase 1
44 Liquid Buccal Mucosa Graft Urethroplasty Not yet recruiting NCT03061344 Phase 1
45 Comparative Trial of Botox in the Management of Children With Congenital Muscular Torticollis Withdrawn NCT00175604 Phase 1 Botox
46 Investigating the Effectiveness of Mobilization on Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011 Not Applicable
47 Investigating the Effectiveness of Control Frequency on and Deformational Plagiocephaly Unknown status NCT02607969 Not Applicable
48 Laser Therapy on Neck Pain in Adolescents Unknown status NCT01849913 Not Applicable
49 A Multicenter Pilot Study of Pallidal Deep Brain Stimulation for Cervical Dystonia Unknown status NCT00132990 Not Applicable
50 Humanitarian Device Exemption Approved for marketing NCT00580658

Search NIH Clinical Center for Torticollis

Genetic Tests for Torticollis

Genetic tests related to Torticollis:

# Genetic test Affiliating Genes
1 Torticollis 29

Anatomical Context for Torticollis

MalaCards organs/tissues related to Torticollis:

41
Brain, Prostate, Spinal Cord, Eye, Tonsil, Heart

Publications for Torticollis

Articles related to Torticollis:

(show top 50) (show all 258)
# Title Authors Year
1
Botulinum toxin type A relieves sternocleidomastoid muscle fibrosis in congenital muscular torticollis. ( 29447964 )
2018
2
Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Evidence-Based Clinical Practice Guideline. ( 29924060 )
2018
3
New Rhizotomy Procedure for Primary Spasmodic Torticollis. ( 29608485 )
2018
4
Commentary on "Interrater and Intrarater Reliability of the Congenital Muscular Torticollis Severity Classification System". ( 29924062 )
2018
5
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders. ( 29926469 )
2018
6
Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers. ( 29720210 )
2018
7
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. ( 29956301 )
2018
8
Torticollis in Infants with a History of Neonatal Abstinence Syndrome. ( 29395169 )
2018
9
A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L'hermitte's phenomenon. ( 29744614 )
2018
10
Paroxysmal torticollis of infancy: a benign phenomenon? ( 29972237 )
2018
11
Rare Concurrence of Congenital Muscular Torticollis and a Malignant Tumor in the Same Sternocleidomastoid Muscle. ( 29560341 )
2018
12
A simplified ultrasonography-guided approach for neurotoxin injection into the obliquus capitis inferior muscle in spasmodic torticollis. ( 29488101 )
2018
13
Shear wave sonoelastography in infants with congenital muscular torticollis. ( 29419681 )
2018
14
Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis. ( 29485567 )
2018
15
Torticollis Caused by Nontraumatic Craniovertebral Junction Abnormalities. ( 29905581 )
2018
16
Painful torticollis following adenotonsillectomy: a cardinal sign of atlantoaxial subluxation. ( 29496687 )
2018
17
Commentary on "Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Clinical Practice Guideline". ( 29924061 )
2018
18
Postoperative Analgesic Effect of Ultrasound-Guided Intermediate Cervical Plexus Block on Unipolar Sternocleidomastoid Release With Myectomy in Pediatric Patients With Congenital Muscular Torticollis: A Prospective, Randomized Controlled Trial. ( 29781932 )
2018
19
Minimal clinically important change in the Toronto Western Spasmodic Torticollis Rating Scale. ( 29530726 )
2018
20
Cervical Spine Dysmorphism in Congenital Muscular Torticollis. ( 29485556 )
2018
21
Red Flags in Torticollis: A Historical Cohort Study. ( 29298248 )
2018
22
Interrater and Intrarater Reliability of the Congenital Muscular Torticollis Severity Classification System. ( 29851900 )
2018
23
Cervical hemivertebra resection and torticollis correction: report on two cases and literature review. ( 29492719 )
2018
24
Evaluating Atlantoaxial Dislocation Based on Cartesian Coordinates: Proposing a New Definition and Its Impact on Assessment of Congenital Torticollis. ( 28472514 )
2017
25
Torticollis and Fever in a Young Boy: A Unique Presentation of Cat-Scratch Disease With Vertebral Osteomyelitis and Epidural Phlegmon. ( 29095386 )
2017
26
Spasmodic torticollis after orthognathic surgery. ( 28838773 )
2017
27
Hemivertebra of the cervical spine: an uncommon background for neck pain, cervical scoliosis, and torticollis. ( 29026581 )
2017
28
Comparison of Clinical Findings of Congenital Muscular Torticollis Between Patients With and Without Sternocleidomastoid Lesions as Determined by Ultrasonography. ( 28777287 )
2017
29
Botulinum Toxin for Painful Torticollis in Leptomeningeal Disease: Case Report. ( 29191723 )
2017
30
Unresolved Congenital Torticollis and Its Consequences: A Report of 2 Cases. ( 29097958 )
2017
31
Uptake of the Congenital Muscular Torticollis Clinical Practice Guideline Into Pediatric Practice. ( 28953172 )
2017
32
A randomized controlled study on the efficiency of soft tissue mobilization in babies with congenital muscular torticollis. ( 28946532 )
2017
33
Commentary on "Uptake of the Congenital Muscular Torticollis Clinical Practice Guideline Into Pediatric Practice". ( 28953173 )
2017
34
A study on asymmetry in infants with congenital muscular torticollis according to head rotation. ( 28210037 )
2017
35
Conservative Care of Pediatric Acquired Torticollis: A Report of 2 Cases. ( 29097957 )
2017
36
A Rare Cause of Torticollis: Grisel Syndrome. ( 28985397 )
2017
37
Opaque intraocular lens for correction of intractable diplopia and torticollis. ( 28775108 )
2017
38
Comparison of 2 Operative Methods for Treating Laterocollis and Torticollis Subtypes of Spasmodic Torticollis: Follow-Up of 121 Cases. ( 28939542 )
2017
39
Imaging of congenital torticollis in infants: a retrospective study of an institutional protocol. ( 28574316 )
2017
40
Atlanto-axial langerhans cell histiocytosis in a child presented as torticollis. ( 28868307 )
2017
41
Contralateral involvement of congenital muscular torticollis and clavicular fracture. ( 29135478 )
2017
42
Surgical management of congenital torticollis in children older than 7 years with an average 10-year follow-up. ( 27203708 )
2016
43
The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene? ( 26961263 )
2016
44
Bilateral congenital torticollis: a case report with 25 years of follow-up. ( 27902637 )
2016
45
The Efficacy of Topiramate in Benign Paroxysmal Torticollis of Infancy: Report of Four Cases. ( 26956101 )
2016
46
Transient Motor Asymmetry Among Infants With Congenital Torticollis-Description, Characterization, and Results of Follow-Up. ( 27020737 )
2016
47
A Clinical Comparative Study of Ultrasound-Normal Versus Ultrasound-Abnormal Congenital Muscular Torticollis. ( 26261023 )
2016
48
Acquired torticollis due to primary pyomyositis of the paraspinal muscles in an 11-year-old boy. ( 26994045 )
2016
49
Sexual Well-Being in Patients with Blepharospasm, Spasmodic Torticollis, and Hemifacial Spasm: A Pilot Study. ( 27761118 )
2016
50
A Rare Cervical Dystonia Mimic in Adults: Congenital Muscular Torticollis (Fibromatosis colli), a Follow-up. ( 26869987 )
2016

Variations for Torticollis

ClinVar genetic disease variations for Torticollis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(6;11)(q23;q21)or(q25;q21)dn Translocation Uncertain significance
2 ADGRG2; MAP3K15; PDHA1; SH3KBP1 GRCh37/hg19 Xp22.13-22.12(chrX: 19030055-19591281) copy number gain Uncertain significance GRCh37 Chromosome X, 19030055: 19591281

Expression for Torticollis

Search GEO for disease gene expression data for Torticollis.

Pathways for Torticollis

Pathways related to Torticollis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
9.77 SCP2 TSPO

GO Terms for Torticollis

Cellular components related to Torticollis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynapse GO:0098793 8.96 CACNA1A PRRT2
2 axon terminus GO:0043679 8.62 DRD2 PRRT2

Biological processes related to Torticollis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 synapse assembly GO:0007416 9.43 CACNA1A DRD2
2 steroid biosynthetic process GO:0006694 9.4 SCP2 TSPO
3 adult walking behavior GO:0007628 9.37 CACNA1A DRD2
4 response to axon injury GO:0048678 9.32 DRD2 TSPO
5 response to pain GO:0048265 9.26 CACNA1A TSPO
6 behavioral response to pain GO:0048266 9.16 CACNA1A TSPO
7 neuron-neuron synaptic transmission GO:0007270 8.96 CACNA1A DRD2
8 regulation of dopamine uptake involved in synaptic transmission GO:0051584 8.62 DRD2 TOR1A

Molecular functions related to Torticollis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cholesterol binding GO:0015485 8.62 SCP2 TSPO

Sources for Torticollis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....