MCID: TRT019
MIFTS: 49

Torticollis

Categories: Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Torticollis

MalaCards integrated aliases for Torticollis:

Name: Torticollis 58 77 30 6

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant
? same as dystonia musculorum


HPO:

33
torticollis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 189600
ICD10 34 M43.6
MedGen 43 C0040485

Summaries for Torticollis

OMIM : 58 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 hemiplegic migraine. An important gene associated with Torticollis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways is Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). The drugs Acetylcholine and Ropivacaine 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 : 77 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 159)
# Related Disease Score Top Affiliating Genes
1 cervical dystonia 33.3 CIZ1 TOR1A
2 hemiplegic migraine 29.8 CACNA1A PRRT2
3 dystonia 29.6 CIZ1 DRD2 PRRT2 SCP2 TOR1A
4 focal dystonia 29.5 CIZ1 DRD2 TOR1A
5 segmental dystonia 29.5 CIZ1 TOR1A
6 episodic ataxia 29.5 CACNA1A PRRT2
7 migraine with or without aura 1 29.4 CACNA1A DRD2 PRRT2
8 torticollis, keloids, cryptorchidism, and renal dysplasia 12.5
9 congenital torticollis 12.3
10 malignant hyperthermia arthrogryposis torticollis 12.3
11 benign paroxysmal torticollis of infancy 12.3
12 torticollis, familial 12.3
13 contractures, congenital, torticollis, and malignant hyperthermia 12.1
14 sandifer syndrome 11.4
15 dystonia 11, myoclonic 11.3
16 leukoencephalopathy with dystonia and motor neuropathy 11.2
17 ophthalmoplegia, external, with rib and vertebral anomalies 11.2
18 bethlem myopathy 1 11.0
19 spinocerebellar ataxia 35 11.0
20 torsion dystonia 17 11.0
21 dyt-tubb4a 11.0
22 plagiocephaly 10.4
23 blepharospasm 10.3
24 hemifacial hyperplasia 10.3
25 tremor 10.3
26 scoliosis 10.2
27 familial or sporadic hemiplegic migraine 10.2 CACNA1A PRRT2
28 hemifacial spasm 10.1
29 spinocerebellar ataxia 31 10.1 CACNA1A TGM6
30 spinocerebellar ataxia 2 10.1 ARID1B CACNA1A
31 multiple sclerosis 10.1
32 osteomyelitis 10.1
33 fibromatosis 10.1
34 depression 10.1
35 migraine without aura 10.1 CACNA1A DRD2
36 strabismus 10.0
37 arthritis 10.0
38 neuropathy 10.0
39 eosinophilic granuloma 10.0
40 gastroesophageal reflux 10.0
41 essential tremor 10.0
42 spondylitis 10.0
43 meningitis 10.0
44 dysphagia 10.0
45 wheat allergy 9.9 SCP2 TOR1A
46 migraine with aura 9.9 CACNA1A DRD2 PRRT2
47 dystonia 12 9.9
48 rheumatoid arthritis 9.9
49 schizophrenia 9.9
50 intracranial hypertension, idiopathic 9.9

Graphical network of the top 20 diseases related to Torticollis:



Diseases related to Torticollis

Symptoms & Phenotypes for Torticollis

Human phenotypes related to Torticollis:

33
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 33 HP:0000324
2 torticollis 33 HP:0000473

Symptoms via clinical synopsis from OMIM:

58
Facies:
facial asymmetry

Neck:
torticollis

Clinical features from OMIM:

189600

MGI Mouse Phenotypes related to Torticollis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ARID1B BAX CACNA1A CIZ1 DRD2 PRRT2
2 growth/size/body region MP:0005378 9.56 ARID1B BAX CACNA1A CIZ1 DRD2 SCP2
3 immune system MP:0005387 9.23 ACTL6A ARID1B BAX CACNA1A CIZ1 DRD2

Drugs & Therapeutics for Torticollis

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 51-84-3 187
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Ibuprofen Approved Phase 4 15687-27-1 3672
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
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 Neuromuscular Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
9 Acetylcholine Release Inhibitors Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
10 Cholinergic 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 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
13 Analgesics Phase 4,Phase 2
14 Analgesics, Non-Narcotic Phase 4,Phase 2
15 Anesthetics Phase 4,Phase 1,Phase 2,Not Applicable
16 Adjuvants, Anesthesia Phase 4
17 Anesthetics, General Phase 4
18 Antirheumatic Agents Phase 4
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4
20 Anesthetics, Intravenous Phase 4
21 Narcotics Phase 4
22 Cyclooxygenase Inhibitors Phase 4
23 Analgesics, Opioid Phase 4
24 Anti-Inflammatory Agents Phase 4,Not Applicable
25 Central Nervous System Depressants Phase 4
26 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
27 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
28 rimabotulinumtoxinB Phase 4,Phase 2
29
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078
30
Amlodipine Approved Phase 2 88150-42-9 2162
31
Levetiracetam Approved, Investigational Phase 2 102767-28-2 441341
32
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
33 Hallucinogens Phase 2
34 Hormones Phase 2
35 Psychotropic Drugs Phase 2
36 Cannabinoid Receptor Agonists Phase 2
37 Hormone Antagonists Phase 2
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
39 calcium channel blockers Phase 2
40 Vasodilator Agents Phase 2
41 Calcium, Dietary Phase 2
42 Antihypertensive Agents Phase 2
43 Nootropic Agents Phase 2
44 Anticonvulsants Phase 2
45 Fibrin Tissue Adhesive Phase 1
46
Hydrocortisone acetate Approved, Vet_approved Not Applicable 50-03-3
47
Hydrocortisone Approved, Vet_approved Not Applicable 50-23-7 5754
48
Trihexyphenidyl Approved 58947-95-8, 144-11-6 5572
49
Triamcinolone Approved, Vet_approved Not Applicable 124-94-7 31307
50
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0

Interventional clinical trials:

(show top 50) (show all 115)
# 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 OnabotulinumtoxinA in the Management of Psychogenic Dystonia Completed NCT02618889 Phase 4
7 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Completed NCT01860196 Phase 4 Meditoxin;Normal saline
8 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
9 Neurotoxin and Physical Therapy Completed NCT02177617 Phase 4 Botox injection
10 A Study to Compare Dysport® and Botox® in the Treatment of Cervical Dystonia Completed NCT00950664 Phase 4 Dysport® (abobotulinumtoxinA);Botox® (onabotulinumtoxinA)
11 Open-Label Non-Inferiority Study Evaluating the Efficacy and Safety of Xeomin® in Subjects With Cervical Dystonia Flex Completed NCT01486264 Phase 4
12 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
13 Global Performance Evaluation of the AMS CONTINUUM™ Device Completed NCT01083199 Phase 4
14 A Long-Term Study Examining the Treatment of Benign Prostatic Hyperplasia With Photoselective Vaporization Completed NCT00465101 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 Meditoxin® Treatment in Patients With Cervical Dystonia Completed NCT03232320 Phase 3 Meditoxin;Placebo
19 Study to Assess the Efficacy and Safety of Dysport® in Cervical Dystonia Completed NCT00447772 Phase 3 Botulinum type A toxin (Dysport®)
20 Double-blind, Multicenter Study to Assess the Efficacy of Bilateral Pallidal Stimulation in Patients With Medically Refractory Primary Cervical Dystonia Completed NCT00148889 Phase 3
21 Randomized, Placebo-Controlled Study of AbobotulinumtoxinA (Dysport®) for the Treatment of Cervical Dystonia Completed NCT00257660 Phase 3 Botulinum type A toxin (Dysport®);Placebo
22 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
23 Efficacy and Safety of DYSPORT® Using 2mL Dilution in Adults With Cervical Dystonia. Completed NCT01753310 Phase 3 Dysport®;Placebo
24 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Cervical Dystonia Completed NCT00407030 Phase 3 incobotulinumtoxinA (Xeomin) (240 Units);incobotulinumtoxinA (Xeomin) (120 Units);Placebo
25 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
26 Long Term Safety And Effectiveness Of Dysport® In Adults With Cervical Dystonia Completed NCT01753336 Phase 3 Dysport®
27 Single Treatment of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-1) Recruiting NCT03608397 Phase 3
28 Long-Term Safety and Efficacy of Repeat Treatments of DaxibotulinumtoxinA for Injection in Adults With Isolated Cervical Dystonia (ASPEN-OLS) Recruiting NCT03617367 Phase 3
29 Abobotulinum Toxin and Neubotulinum Toxin Injection in Cerivical Dystonia Not yet recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
30 Effectiveness and Safety of Adipose-derived Regenerative Cells for Reduction of Risk of Bladder Neck Contracture Unknown status NCT02869061 Phase 1, Phase 2
31 Efficacy of Dronabinol for the Treatment of Cervical Dystonia Unknown status NCT00418925 Phase 2 Dronabinol
32 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
33 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
34 Dose-escalating Safety and Preliminary Efficacy of DaxibotulinumtoxinA for Injection in Cervical Dystonia Completed NCT02706795 Phase 2
35 Effect of Type-A Botulinum Toxin in the Post-radiosurgical Neck Contractures Completed NCT02986880 Phase 2 Botulinum toxin A
36 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
37 Study to Evaluate Safety, Efficacy of Botulinum Toxin Type A in Patients With Cervical Dystonia Completed NCT00564681 Phase 2 Normal Saline
38 Amlodipine Plus Botulinum Toxin for Focal Dystonia Completed NCT00015457 Phase 2 Amlodipine plus Botulinum toxin
39 Study for Determine the Safety and Efficacy of Clostridium Botulinum Toxin Type A in Subjects With Cervical Dystonia Completed NCT01588574 Phase 2
40 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
41 Safety and Tolerability of Perampanel in Cervical Dystonia Recruiting NCT02131467 Phase 1, Phase 2 Perampanel
42 Clinical and Kinematic Assessment for Determination of Botox® Injection Parameters in Cervical Dystonia Recruiting NCT02662530 Phase 2 Botulinum Toxin Type A
43 Keppra for Cervical Dystonia Terminated NCT00760318 Phase 2 Keppra
44 Botulinum Toxin Injection Efficiency Unknown status NCT01041157 Phase 1
45 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
46 Deep Brain Stimulation to Treat Cervical Dystonia Completed NCT00132340 Phase 1
47 Liquid Buccal Mucosa Graft Urethroplasty Not yet recruiting NCT03061344 Phase 1
48 Comparative Trial of Botox in the Management of Children With Congenital Muscular Torticollis Withdrawn NCT00175604 Phase 1 Botox
49 Investigating the Effectiveness of Mobilization on Congenital Muscular Torticollis and Deformational Plagiocephaly Unknown status NCT02403011 Not Applicable
50 Investigating the Effectiveness of Control Frequency on and Deformational Plagiocephaly Unknown status NCT02607969 Not Applicable

Search NIH Clinical Center for Torticollis

Genetic Tests for Torticollis

Genetic tests related to Torticollis:

# Genetic test Affiliating Genes
1 Torticollis 30

Anatomical Context for Torticollis

MalaCards organs/tissues related to Torticollis:

42
Brain, Prostate, Spinal Cord, Eye, Testes, Tongue, Tonsil

Publications for Torticollis

Articles related to Torticollis:

(show top 50) (show all 1185)
# Title Authors Year
1
Relationship Between Torticollis and Gastroesophageal Reflux Disorder in Infants. ( 30865145 )
2019
2
Commentary on "Relationship Between Torticollis and Gastroesophageal Reflux Disorder in Infants". ( 30907830 )
2019
3
Application of the Clinical Practice Guideline for Congenital Muscular Torticollis: A Case Report. ( 30557293 )
2019
4
Manipulation techniques for infant torticollis. ( 30644674 )
2019
5
Young Girl With Torticollis. ( 30661539 )
2019
6
Frequency-Specific Microcurrent for Treatment of Longstanding Congenital Muscular Torticollis. ( 30664049 )
2019
7
Two-Dimensional Ultrasound and Shear Wave Elastography in Infants With Late-Referral Congenital Muscular Torticollis. ( 30666660 )
2019
8
Microvascular decompression with partial occipital condylectomy in a case of pediatric spasmodic torticollis. ( 30701298 )
2019
9
Measurement properties of instruments for assessment of cervical spine function in infants with torticollis: a systematic review. ( 30778746 )
2019
10
Unique finding in congenital muscular torticollis: Clinic screening on the neck of one day old neonate and ultrasonographic imaging from birth through 3 years of follow-up. ( 30882654 )
2019
11
Botulinum toxin type A relieves sternocleidomastoid muscle fibrosis in congenital muscular torticollis. ( 29447964 )
2018
12
Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Evidence-Based Clinical Practice Guideline. ( 29924060 )
2018
13
New Rhizotomy Procedure for Primary Spasmodic Torticollis. ( 29608485 )
2018
14
Commentary on "Interrater and Intrarater Reliability of the Congenital Muscular Torticollis Severity Classification System". ( 29924062 )
2018
15
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders. ( 29926469 )
2018
16
Endoscopic release of congenital muscular torticollis with radiofrequency in teenagers. ( 29720210 )
2018
17
Benign paroxysmal torticollis of infancy does not lead to neurological sequelae. ( 29956301 )
2018
18
Torticollis in Infants with a History of Neonatal Abstinence Syndrome. ( 29395169 )
2018
19
A case of epidural glioblastoma metastasis presenting with a cervical myelopathy, torticollis, and L'hermitte's phenomenon. ( 29744614 )
2018
20
Paroxysmal torticollis of infancy: a benign phenomenon? ( 29972237 )
2018
21
Rare Concurrence of Congenital Muscular Torticollis and a Malignant Tumor in the Same Sternocleidomastoid Muscle. ( 29560341 )
2018
22
A simplified ultrasonography-guided approach for neurotoxin injection into the obliquus capitis inferior muscle in spasmodic torticollis. ( 29488101 )
2018
23
Shear wave sonoelastography in infants with congenital muscular torticollis. ( 29419681 )
2018
24
Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis. ( 29485567 )
2018
25
Torticollis Caused by Nontraumatic Craniovertebral Junction Abnormalities. ( 29905581 )
2018
26
Painful torticollis following adenotonsillectomy: a cardinal sign of atlantoaxial subluxation. ( 29496687 )
2018
27
Commentary on "Informing the Update to the Physical Therapy Management of Congenital Muscular Torticollis Clinical Practice Guideline". ( 29924061 )
2018
28
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
29
Minimal clinically important change in the Toronto Western Spasmodic Torticollis Rating Scale. ( 29530726 )
2018
30
Cervical Spine Dysmorphism in Congenital Muscular Torticollis. ( 29485556 )
2018
31
Red Flags in Torticollis: A Historical Cohort Study. ( 29298248 )
2018
32
Interrater and Intrarater Reliability of the Congenital Muscular Torticollis Severity Classification System. ( 29851900 )
2018
33
Cervical hemivertebra resection and torticollis correction: report on two cases and literature review. ( 29492719 )
2018
34
Chest Wall Fibromatosis with Congenital Muscular Torticollis: Two Forms of Deep Fibromatosis in a Child. ( 30050265 )
2018
35
A rare case of hypereosinophilic syndrome presenting with unilateral proptosis and torticollis. ( 30249857 )
2018
36
Torticollis as Presentation for Atypical Kawasaki Disease Complicated by Giant Coronary Artery Aneurysms. ( 30402318 )
2018
37
Description of Mandibular Improvements in a Series of Infants With Congenital Muscular Torticollis and Deformational Plagiocephaly Treated With Physical Therapy. ( 29989836 )
2018
38
Erratum to: "Spasmodic torticollis after orthognathic surgery" [J. Stomatol. Oral Maxillofac. Surg. 118 (2017) 393-6]. ( 29339087 )
2018
39
Posterior fossa arachnoid cyst causing torticollis and gastro-oesophageal reflux in an infant. ( 30062591 )
2018
40
Torticollis After a Somersault: A Case of Grisel's Syndrome. ( 30105566 )
2018
41
Intervertebral disc calcification as a cause of painful torticollis in children. ( 30119944 )
2018
42
New CPG for Torticollis! ( 30277961 )
2018
43
Physical Therapy Management of Congenital Muscular Torticollis: A 2018 Evidence-Based Clinical Practice Guideline From the APTA Academy of Pediatric Physical Therapy. ( 30277962 )
2018
44
Ocular Torticollis. ( 30282579 )
2018
45
Expression of Bax/Bcl-2, TGF-β1, and Type III Collagen Fiber in Congenital Muscular Torticollis. ( 30390390 )
2018
46
Use of Combined Botulinum Toxin and Physical Therapy for Treatment Resistant Congenital Muscular Torticollis. ( 30451814 )
2018
47
Relationship between sonography of sternocleidomastoid muscle and cervical passive range of motion in infants with congenital muscular torticollis. ( 30709579 )
2018
48
Manipulation Under Anesthesia in Infants With Arthrogenic Newborn Torticollis: A Retrospective Case Series. ( 30846923 )
2018
49
Evaluating Atlantoaxial Dislocation Based on Cartesian Coordinates: Proposing a New Definition and Its Impact on Assessment of Congenital Torticollis. ( 28472514 )
2017
50
Torticollis and Fever in a Young Boy: A Unique Presentation of Cat-Scratch Disease With Vertebral Osteomyelitis and Epidural Phlegmon. ( 29095386 )
2017

Variations for Torticollis

ClinVar genetic disease variations for Torticollis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh38 Chromosome 6, 157207109: 157207109
2 ARID1B NM_020732.3(ARID1B): c.5968C> T (p.Arg1990Ter) single nucleotide variant Pathogenic rs797045283 GRCh37 Chromosome 6, 157528243: 157528243
3 46;XY;t(6;11)(q23;q21)or(q25;q21)dn Translocation Uncertain significance
4 ADGRG2; MAP3K15; PDHA1; SH3KBP1 GRCh37/hg19 Xp22.13-22.12(chrX: 19030055-19591281) copy number gain Uncertain significance GRCh37 Chromosome X, 19030055: 19591281
5 ACTL6A NM_004301.4(ACTL6A): c.1129C> T (p.Arg377Trp) single nucleotide variant Likely pathogenic rs868064163 GRCh37 Chromosome 3, 179304340: 179304340
6 ACTL6A NM_004301.4(ACTL6A): c.1129C> T (p.Arg377Trp) single nucleotide variant Likely pathogenic rs868064163 GRCh38 Chromosome 3, 179586552: 179586552

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 SWI/SNF complex GO:0016514 8.62 ACTL6A ARID1B

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

# Name GO ID Score Top Affiliating Genes
1 adult walking behavior GO:0007628 9.37 CACNA1A DRD2
2 response to pain GO:0048265 9.32 CACNA1A TSPO
3 behavioral response to pain GO:0048266 9.26 CACNA1A TSPO
4 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.16 DRD2 TOR1A
5 response to axon injury GO:0048678 9.13 BAX DRD2 TSPO
6 neuron-neuron synaptic transmission GO:0007270 8.8 ARID1B CACNA1A DRD2

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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