Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia 54 29 6

Summaries for Hypertonia

NINDS : 54 Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move.  Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged.  This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. Hypertonia often limits how easily the joints can move.  If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance.  If hypertonia is severe, it can cause a joint to become "frozen," which doctors call a joint contracture. Spasticity is a term that is often used interchangeably with hypertonia.  Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement.  In this type, patients usually have exaggerated reflex responses. Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement.  Rigidity  usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain).  To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.

MalaCards based summary : Hypertonia is related to muscular hypertonia, lethal and spasticity. An important gene associated with Hypertonia is SMC1A (Structural Maintenance Of Chromosomes 1A). The drugs Acetylcholine and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and testes.

Wikipedia : 76 Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature... more...

Related Diseases for Hypertonia

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 muscular hypertonia, lethal 11.9
2 spasticity 11.2
3 hyperekplexia 11.1
4 hypotonia 11.1
5 pontocerebellar hypoplasia, type 4 10.9
6 glycine encephalopathy with normal serum glycine 10.8
7 neurodevelopmental disorder with or without seizures and gait abnormalities 10.8
8 hydroxykynureninuria 10.8
9 phosphoserine aminotransferase deficiency 10.8
10 spastic paraplegia 50, autosomal recessive 10.8
11 spastic paraplegia 47, autosomal recessive 10.8
12 spastic paraplegia 52, autosomal recessive 10.8
13 peroxisomal acyl-coa oxidase deficiency 10.7
14 mitochondrial complex iii deficiency, nuclear type 8 10.7
15 crisponi/cold-induced sweating syndrome 1 10.7
16 epileptic encephalopathy, early infantile, 25 10.7
17 hydranencephaly 10.7
18 infantile hypotonia 10.7
19 hyperekplexia 1 10.7
20 dihydropyrimidine dehydrogenase deficiency 10.7
21 combined oxidative phosphorylation deficiency 21 10.7
22 weaver syndrome 10.7
23 mental retardation, autosomal dominant 42 10.7
24 chromosome 9p deletion syndrome 10.7
25 mental retardation and microcephaly with pontine and cerebellar hypoplasia 10.7
26 3-methylglutaconic aciduria, type viii 10.7
27 myoglobinuria, recurrent 10.7
28 seizures, benign familial infantile, 1 10.7
29 spastic diplegia 10.7
30 pontocerebellar hypoplasia, type 1a 10.7
31 hyperekplexia 4 10.7
32 krabbe disease 10.7
33 spastic paraplegia 51, autosomal recessive 10.7
34 cerebral palsy athetoid 10.7
35 hereditary methemoglobinemia 10.7
36 lissencephaly 2 10.7
37 mental retardation smith fineman myers type 10.7
38 d-bifunctional protein deficiency 10.7
39 keppen-lubinsky syndrome 10.7
40 hyperphenylalaninemia, bh4-deficient, c 10.7
41 hyperekplexia 3 10.7
42 lissencephaly 10.7
43 floppy infant syndrome 10.7
44 hyperphenylalaninemia, bh4-deficient, a 10.7
45 epileptic encephalopathy, early infantile, 21 10.7
46 dyskinetic cerebral palsy 10.7
47 cerebritis 10.2
48 brain injury 10.2
49 cerebral palsy 10.2
50 dystonia 10.1

Graphical network of the top 20 diseases related to Hypertonia:



Diseases related to Hypertonia

Symptoms & Phenotypes for Hypertonia

Drugs & Therapeutics for Hypertonia

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

(show top 50) (show all 207)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
2
Benzocaine Approved, Investigational Phase 4,Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
3
Misoprostol Approved Phase 4,Phase 3,Phase 2 59122-46-2 5282381
4
Oxytocin Approved, Vet_approved Phase 4 50-56-6 439302 53477758
5
Remifentanil Approved Phase 4 132875-61-7 60815
6
Memantine Approved, Investigational Phase 4 19982-08-2 4054
7
Clonidine Approved Phase 4,Phase 3,Phase 1,Phase 2 4205-90-7 2803
8
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10
Morphine Approved, Investigational Phase 4,Phase 3,Not Applicable 57-27-2 5288826
11
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1 1134-47-0 2284
12
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
13
Tizanidine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 51322-75-9 5487
14
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
15
Ethanol Approved Phase 4,Phase 3 64-17-5 702
16
Dinoprostone Approved Phase 4,Phase 3,Phase 2 363-24-6 5280360
17
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 1972-08-3 16078
18
Peppermint oil Approved, Investigational Phase 4,Phase 3 8006-90-4
19 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Not Applicable
20
Glutamic Acid Approved, Nutraceutical Phase 4 56-86-0 33032
21
Peppermint Approved, Nutraceutical Phase 4,Phase 3
22 abobotulinumtoxinA Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
23 Cholinergic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Not Applicable
25 Neuromuscular Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Neuromuscular Blocking Agents Phase 4
27 Neuromuscular Nondepolarizing Agents Phase 4
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
29 onabotulinumtoxinA Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Oxytocics Phase 4,Phase 3,Phase 2
31 Antacids Phase 4,Phase 3,Phase 2
32 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2
34 incobotulinumtoxinA Phase 4,Phase 3,Phase 2,Not Applicable
35 Anti-Ulcer Agents Phase 4,Phase 3,Phase 2
36 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Not Applicable
40 Adrenergic Agents Phase 4,Phase 3,Phase 1,Phase 2
41 rimabotulinumtoxinB Phase 4,Phase 1,Phase 2
42 Adrenergic Agonists Phase 4,Phase 3,Phase 1,Phase 2
43 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1,Phase 2
44 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Phase 2
45 Narcotics Phase 4,Phase 3,Not Applicable
46 Sympatholytics Phase 4,Phase 3,Phase 1,Phase 2
47 Analgesics, Opioid Phase 4,Phase 3,Not Applicable
48 Anesthetics Phase 4,Phase 3,Not Applicable
49 Anesthetics, Dissociative Phase 4
50 Anesthetics, General Phase 4

Interventional clinical trials:

(show top 50) (show all 358)
# Name Status NCT ID Phase Drugs
1 Comparison of Vaginal Misoprostol Plus Supracervical Balloon Versus Vaginal Misoprostol Alone for Induction of Labor Unknown status NCT02762942 Phase 4 Misoprostol
2 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Unknown status NCT02757404 Phase 4
3 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
4 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
5 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
6 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
7 Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
8 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
9 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
10 SISTERS: Spasticity In Stroke Study - Randomized Study Completed NCT01032239 Phase 4 intrathecal baclofen
11 Vanderbilt University Spasticity Management Program Evaluation Plan Completed NCT00179114 Phase 4 Botulinum Toxin Type A;Intrathecal baclofen administered by the Medtronic SyncroMed(TM) pump (ITB)
12 Study to Assess Impact of Dysport Injections Early After Stroke on Upper Limb Spasticity Progression Completed NCT02321436 Phase 4 BotulinumtoxinA;Placebo
13 The Balloon Project for Birth Induction Completed NCT01255839 Phase 4 Minprostin
14 Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery Completed NCT02724111 Phase 4 sufficient dose of rocuronium;sugammadex 10 min after position change
15 Study of Memantine for Gait Disorders And Attention Deficit In Parkinson's Disease Completed NCT01108029 Phase 4 memantine;placebo
16 NAS Treatment - Opiate Versus Non-Opiate Completed NCT01734551 Phase 4 Morphine;Clonidine
17 A Study Comparing the Use of Deep or Standard Neuromuscular Blockade in Combination With Low or Standard Insufflation Pressures in Participants Undergoing Laparoscopic Cholecystectomy (P07982) Completed NCT01728584 Phase 4 Rocuronium;Sugammadex
18 Remifentanil Use in Pediatric Rigid Bronchoscopy Completed NCT01947114 Phase 4 Propofol;Ketamine;Remifentanil
19 Botulinum Toxin A Adult Gastrocnemius Muscle Study Completed NCT01278576 Phase 4 BOTOX-A®
20 Hand Rehabilitation Using Botulinum Toxin and Functional Electrical Stimulation-pilot Study Completed NCT03549975 Phase 4 Botulinum Toxin Type A 100 unit/Vial (Product)
21 Effects of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
22 BOTOX® Economic Spasticity Trial (BEST) Completed NCT00549783 Phase 4
23 BOTOX® Versus Zanaflex® for the Treatment of Post-Stroke or Traumatic Brain Injury Upper Limb Spasticity Completed NCT00430196 Phase 4 BOTOX®;Zanaflex®
24 Asian Botulinum Clinical Trial Designed for Early Stroke Spasticity Completed NCT00234546 Phase 4 Botulinum toxin type A (Dysport®)
25 Effects on Quality of Life Following Dysport Treatment in Post-Stroke Spasticity of the Arm Completed NCT00216411 Phase 4 Botulinum type A toxin (Dysport)
26 Myobloc Atrophy Study Completed NCT02052024 Phase 4 Botox;MYOBLOC
27 Safety of Xeomin for Lower Limb Spasticity in Multiple Sclerosis Patients Completed NCT01968902 Phase 4
28 A Randomized Study of Sativex on Cognitive Function and Mood: Multiple Sclerosis Patients Completed NCT01964547 Phase 4 Sativex;Placebo
29 Comparative Efficacy of Three Preparations of Botox-A in Treating Spasticity Completed NCT00178646 Phase 4 Botox
30 The Movement of Botulinum Toxin Through the Lateral Gastrocnemius Muscle in Humans: An Expanded Examination Recruiting NCT03367429 Phase 4 Botox
31 Efficacy and Safety of Hourly Titrated Misoprostol Versus Vaginal Dinoprostone and Misoprostol for Cervical Ripening and Labor Induction Recruiting NCT02902653 Phase 4 Oral misoprostol;Vaginal misoprostol;Vaginal dinoprostone
32 Dose-response Relationship of Botullinum Toxin (DWP 450) for Finger Flexor Spasticity Recruiting NCT03517319 Phase 4 Normal Saline 0.9% 1.2 ml;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 15 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 30 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 50 U;Clostridium Botulinum Toxin Type A (Nabota, DWP 450) 70 U
33 The Effect of a Self-rehabilitation Program in Addition to Usual Treatment for Spasticity on Impairment and Activity Limitation in Patients With Spastic Hemiparesis Following Stroke Recruiting NCT02944929 Phase 4
34 Intrathecal (IT) Baclofen Drug Distribution Recruiting NCT02903823 Phase 4 Baclofen bolus injection
35 Study of the Effects on Motor Recovery of Early Post-stroke Spasticity Treatment Recruiting NCT02462317 Phase 4 botulinum A toxin;Baclofen;Placebo toxin;placebo baclofen
36 Does Botulinum Toxin A Make Walking Easier in Children With Cerebral Palsy? Recruiting NCT02546999 Phase 4 botox;placebo
37 Study to Evaluate Effects of DYSPORT® Injected in Lower and Upper Limb Combined With Guided Self-Rehabilitation Contract (GSC) Active, not recruiting NCT02969356 Phase 4 AbobotulinumtoxinA (Dysport®)
38 Randomised, Evaluation-blinded, Crossover, Controlled Study Assessing Dynamic Hand Splinting in Adults With Post-stroke Hemiplegia (Orthox) Not yet recruiting NCT02888548 Phase 4
39 Improvement After Botulinum Toxin Injections to the Arms in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
40 Labor Induction and Maternal BMI, Comparison of Different Pre-induction Cervical Ripening Methods Unknown status NCT02223949 Phase 2, Phase 3 PGE1 tablet
41 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Upper Extremities Unknown status NCT02557737 Phase 3 Botulinum Toxin Type A
42 Botulinim Toxin Type A Injections by Different Guidance in Stroke Patients With Spasticity on Lower Extremities Unknown status NCT02469948 Phase 3 Botulinum toxin type A
43 Efficacy and Safety of Tamibarotene(AM80H) for HTLV-1 Associated Myelopathy/ Tropical Spastic Paraparesis (HAM/TSP) Unknown status NCT01343355 Phase 2, Phase 3 Tamibarotene
44 HEMITOX : Effect of Botulinum Toxin Injections on Motor and Functional Ability of Upper Limb in Adults at Earlier Phases of Spastic Hemiplegia After Stroke Unknown status NCT00276185 Phase 3 Time delay treatment of botulinum toxin
45 Study of a New Generation Botulinum Toxin A2NTX to Treat Spasticity After Stroke Unknown status NCT01910363 Phase 2, Phase 3 A2NTX;BOTOX
46 Titrated Oral Compared With Vaginal Misoprostol for Labor Induction at Term Completed NCT00529295 Phase 3 misoprostol
47 Safety and Efficacy of Oral Fampridine-Sustained Release (SR) for the Treatment of Spasticity Resulting From Spinal Cord Injury Completed NCT01683838 Phase 3 Fampridine-SR;Placebo
48 Cervical Ripening Before Induction of Labour at Term: a Randomised Comparison of Prostin vs Propess Completed NCT00545194 Phase 3 Prostaglandin E2
49 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
50 A Study to Evaluate the Botulinum Toxin Type A for Injection(HengLi®) in Subjects With Post-stroke Upper Limb Spasticity Completed NCT02280083 Phase 3 Botulinum Toxin Type A for Injection;placebo

Search NIH Clinical Center for Hypertonia

Genetic Tests for Hypertonia

Genetic tests related to Hypertonia:

# Genetic test Affiliating Genes
1 Hypertonia 29

Anatomical Context for Hypertonia

MalaCards organs/tissues related to Hypertonia:

41
Spinal Cord, Brain, Testes, Prostate, Cervix, Lung, Eye

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 190)
# Title Authors Year
1
Management of hypertonia in cerebral palsy. ( 29135566 )
2018
2
Casting Protocols Following BoNT-A Injections to Treat Spastic Hypertonia of the Triceps Surae in Children with Cerebral Palsy and Equinus Gait: A Randomized Controlled Trial. ( 29771161 )
2018
3
The influence of lower limb impairments on RaceRunning performance in athletes with hypertonia, ataxia or athetosis. ( 29433091 )
2018
4
Spasticity and spastic dystonia: the two faces of velocity-dependent hypertonia. ( 28985544 )
2017
5
Deletion 21pterq22.11: Report of a Patient with Dysmorphic Features, Hypertonia, and CafAc-au-Lait Macules and Review of the Literature. ( 29258104 )
2017
6
Different Effects of Cold Stimulation on Reflex and Non-Reflex Components of Poststroke Spastic Hypertonia. ( 28503163 )
2017
7
Hypertonia Assessment Tool. ( 27742862 )
2017
8
Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion. ( 28924745 )
2017
9
A second-degree atrioventricular block with double escape rhythm secondary to paroxysmal vagal hypertonia. ( 28857928 )
2017
10
Hypertonia. ( 28716516 )
2017
11
Congenital Hypertonia of the Temporalis Leading to Trismus Since Birth. ( 27408475 )
2016
12
Motor hypertonia and lack of locomotor coordination in mutant mice lacking DSCAM. ( 26683069 )
2016
13
Encephalopathy with upper body hypertonia and myoclonus in patient with systemic lupus erythematosus and anti-CASPR2. ( 27432809 )
2016
14
Acquired Mutism and Hypertonia in a Toddler. ( 27364777 )
2016
15
Spasticity and its contribution to hypertonia in cerebral palsy. ( 25649546 )
2015
16
Predictive factors of hypertonia in the upper extremity of chronic stroke survivors. ( 26357437 )
2015
17
Interval training-induced alleviation of rigidity and hypertonia in patients with Parkinson's disease is accompanied by increased basal serum brain-derived neurotrophic factor. ( 25510618 )
2015
18
Validity of resting myotonometric assessment of lower extremity muscles in chronic stroke patients with limited hypertonia: a preliminary study. ( 25023163 )
2014
19
Neonatal hypertonia - a diagnostic challenge. ( 25495611 )
2014
20
Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia. ( 25280635 )
2014
21
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ( 25319849 )
2014
22
Unmyelinated axon loss with postnatal hypertonia after fetal hypoxia. ( 24633673 )
2014
23
Physical therapy in the management of pelvic floor muscles hypertonia in a woman with hereditary spastic paraplegia. ( 25478261 )
2014
24
Effect of radial shock wave therapy on pain and muscle hypertonia: a double-blind study in patients with multiple sclerosis. ( 25257616 )
2014
25
Shock Waves in the Treatment of Muscle Hypertonia and Dystonia. ( 25309915 )
2014
26
Asymmetries in vestibular evoked myogenic potentials in chronic stroke survivors with spastic hypertonia: evidence for a vestibulospinal role. ( 24680197 )
2014
27
Therapist recognition of impaired muscle groups in simulated multi-joint hypertonia. ( 24187243 )
2013
28
Haptic perception of multi-joint hypertonia during simulated patient-therapist physical tele-interaction. ( 24110644 )
2013
29
Acquired deforming hypertonia and contractures in elderly subjects: Definition and prevalence in geriatric institutions (ADH survey). ( 24332786 )
2013
30
Muscle hypertonia after permanent focal cerebral ischemia in rats: a qualitative and quantitative behavioral and electrophysiological study. ( 23509968 )
2013
31
Topical glyceryl trinitrate ointment for pain related to anal hypertonia after stapled hemorrhoidopexy: a randomized controlled trial. ( 23652752 )
2013
32
Baclofen in community paediatric management of hypertonia. ( 23142787 )
2013
33
Further Evaluation of the Scoring, Reliability, and Validity of the Hypertonia Assessment Tool (HAT). ( 23584688 )
2013
34
Haptic recognition of dystonia and spasticity in simulated multi-joint hypertonia. ( 24187266 )
2013
35
Differential diagnosis and treatment of muscle hypertonia as practiced in Zagreb's Centre/Institute for Neuromuscular Diseases. ( 24803845 )
2013
36
Indirect estimates of jaw muscle tension in children with suspected hypertonia, children with suspected hypotonia, and matched controls. ( 22653916 )
2013
37
Treatment of upper limb extensor hypertonia: case report. ( 23809466 )
2013
38
Is oral baclofen effective in neonatal hypertonia? ( 21940694 )
2012
39
Effect of concentration and mode of intrathecal baclofen administration on soleus H-reflex in patients with muscle hypertonia. ( 22595326 )
2012
40
Managing spastic hypertonia in children with cerebral palsy via repetitive passive knee movements. ( 22366894 )
2012
41
Coactivation of ankle muscles during stance phase of gait in patients with lower limb hypertonia after acquired brain injury. ( 22325644 )
2012
42
Electromyogram-lengthening velocity relation in plantar flexors during stance phase of gait in patients with hypertonia after acquired brain injury. ( 22465583 )
2012
43
Casting for upper limb hypertonia: a retrospective study to determine the factors associated with intervention decisions. ( 23232165 )
2012
44
Botulinum toxin-A use in paediatric hypertonia: Canadian practice patterns. ( 22728860 )
2012
45
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. ( 22442437 )
2012
46
Spasticity or reversible muscle hypertonia? ( 21491075 )
2011
47
An old drug for use in the prevention of sudden infant unexpected death due to vagal hypertonia. ( 21814782 )
2011
48
Commentary on "spasticity or reversible muscle hypertonia?". ( 21826387 )
2011
49
Arm motor control as predictor for hypertonia after stroke: a prospective cohort study. ( 21878212 )
2011
50
Commentary on "spasticity or reversible muscle hypertonia?". ( 21826390 )
2011

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh37 Chromosome 17, 73518081: 73518081
2 TSEN54 NM_207346.2(TSEN54): c.919G> T (p.Ala307Ser) single nucleotide variant Pathogenic/Likely pathogenic rs113994152 GRCh38 Chromosome 17, 75522000: 75522000
3 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh37 Chromosome X, 53439900: 53439902
4 SMC1A NM_006306.3(SMC1A): c.802_804delAAG (p.Lys268del) deletion Pathogenic rs727503773 GRCh38 Chromosome X, 53412950: 53412952
5 complex Pathogenic
6 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
7 46;XY;t(2;14)(p22;q24.3)dn Translocation Likely pathogenic
8 ASXL1 NM_015338.5(ASXL1): c.664G> A (p.Glu222Lys) single nucleotide variant Uncertain significance rs780662350 GRCh38 Chromosome 20, 32429999: 32429999
9 ASXL1 NM_015338.5(ASXL1): c.664G> A (p.Glu222Lys) single nucleotide variant Uncertain significance rs780662350 GRCh37 Chromosome 20, 31017802: 31017802
10 OTX2 NM_172337.2(OTX2): c.167_169delTGTinsGG (p.Leu56Argfs) indel Likely pathogenic GRCh38 Chromosome 14, 56804268: 56804270
11 OTX2 NM_172337.2(OTX2): c.167_169delTGTinsGG (p.Leu56Argfs) indel Likely pathogenic GRCh37 Chromosome 14, 57270986: 57270988
12 CASK NM_003688.3(CASK): c.2221+1delinsAT indel Likely pathogenic GRCh38 Chromosome X, 41534892: 41534892
13 CASK NM_003688.3(CASK): c.2221+1delinsAT indel Likely pathogenic GRCh37 Chromosome X, 41394145: 41394145
14 CLUH; METTL16; PAFAH1B1; RAP1GAP2 GRCh37/hg19 17p13.3(chr17: 2339561-2826073) copy number loss Pathogenic GRCh37 Chromosome 17, 2339561: 2826073

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Pathways for Hypertonia

GO Terms for Hypertonia

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.16 GNB1 SMC1A
2 transporter activity GO:0005215 8.96 SLC13A5 SLC6A9
3 symporter activity GO:0015293 8.62 SLC13A5 SLC6A9

Sources for Hypertonia

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
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