Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia 53 29 6


Summaries for Hypertonia

NINDS : 53 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 spastic paraplegia 52, autosomal recessive and spastic paraplegia 50, autosomal recessive. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Clathrin derived vesicle budding and Lysosome. The drugs Diltiazem and Baclofen have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes.

Wikipedia : 74 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 217)
# Related Disease Score Top Affiliating Genes
1 spastic paraplegia 52, autosomal recessive 31.1 AP4S1 AP4M1 AP4B1
2 spastic paraplegia 50, autosomal recessive 31.1 AP4S1 AP4M1 AP4B1
3 spastic paraplegia 47, autosomal recessive 31.1 AP4S1 AP4M1 AP4B1
4 spastic paraplegia 51, autosomal recessive 30.9 AP4S1 AP4M1 AP4B1
5 cerebral palsy 30.1 AP4S1 AP4M1 AP4B1
6 paraplegia 29.5 AP4S1 AP4M1 AP4B1
7 quadriplegia 29.4 AP4S1 AP4M1 AP4B1
8 hereditary spastic paraplegia 29.3 AP4S1 AP4M1 AP4B1
9 microcephaly 28.7 TSEN54 SMC1A BRAT1 AP4M1
10 muscular hypertonia, lethal 12.4
11 hyperekplexia 11.7
12 spasticity 11.5
13 dyskinetic cerebral palsy 11.5
14 hypotonia 11.4
15 spastic diplegia 11.3
16 pontocerebellar hypoplasia, type 4 11.3
17 phosphoserine aminotransferase deficiency 11.3
18 hyperekplexia 4 11.2
19 peroxisomal acyl-coa oxidase deficiency 11.1
20 dihydropyrimidine dehydrogenase deficiency 11.1
21 weaver syndrome 11.1
22 cleft palate, cardiac defect, genital anomalies, and ectrodactyly 11.1
23 keppen-lubinsky syndrome 11.1
24 combined oxidative phosphorylation deficiency 21 11.1
25 glycine encephalopathy with normal serum glycine 11.1
26 neurodevelopmental disorder with or without seizures and gait abnormalities 11.1
27 neurodevelopmental disorder with seizures and speech and walking impairment 11.1
28 spastic tetraplegia and axial hypotonia, progressive 11.1
29 8p inverted duplication/deletion syndrome 11.1
30 hyperekplexia 1 11.0
31 chromosome 9p deletion syndrome 11.0
32 crigler-najjar syndrome, type i 11.0
33 hydroxykynureninuria 11.0
34 krabbe disease 11.0
35 lissencephaly 2 11.0
36 d-bifunctional protein deficiency 11.0
37 hyperphenylalaninemia, bh4-deficient, c 11.0
38 hyperphenylalaninemia, bh4-deficient, a 11.0
39 spinocerebellar degeneration and corneal dystrophy 11.0
40 sulfite oxidase deficiency, isolated 11.0
41 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.0
42 aicardi syndrome 11.0
43 myoglobinuria, recurrent 11.0
44 seizures, benign familial infantile, 1 11.0
45 microcephaly, postnatal progressive, with seizures and brain atrophy 11.0
46 tetrasomy 18p 11.0
47 thiamine metabolism dysfunction syndrome 5 11.0
48 hyperekplexia 3 11.0
49 epileptic encephalopathy, early infantile, 21 11.0
50 mitochondrial complex iii deficiency, nuclear type 8 11.0

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 65)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Diltiazem Approved, Investigational Phase 4 42399-41-7 39186
Baclofen Approved Phase 4 1134-47-0 2284
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
4 Hormones Phase 4
5 Antihypertensive Agents Phase 4
6 Vasodilator Agents Phase 4
7 Calcium, Dietary Phase 4
8 calcium channel blockers Phase 4
9 Laxatives Phase 4
10 Cathartics Phase 4
11 GABA Agonists Phase 4
12 abobotulinumtoxinA Phase 4
13 Cholinergic Agents Phase 4
14 Botulinum Toxins Phase 4
15 Botulinum Toxins, Type A Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
17 Anesthetics Phase 3
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
Aprepitant Approved, Investigational Phase 2 170729-80-3 6918365 151165
Trihexyphenidyl Approved Phase 2 144-11-6, 58947-95-8 5572
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
Dinoprostone Approved Phase 2 363-24-6 5280360
Tauroursodeoxycholic acid Experimental, Investigational Phase 2 14605-22-2 12443252
25 Antiemetics Phase 2
26 Hydrocortisone 17-butyrate 21-propionate Phase 2
27 neurokinin A Phase 2
Substance P Phase 2 33507-63-0 44359816
29 Hydrocortisone hemisuccinate Phase 2
30 Muscarinic Antagonists Phase 2
31 Cholinergic Antagonists Phase 2
32 rimabotulinumtoxinB Phase 1, Phase 2
33 Gastrointestinal Agents Phase 2
34 Antioxidants Phase 2
35 Antiviral Agents Phase 2
36 Neuroprotective Agents Phase 2
37 Anti-Infective Agents Phase 2
Citalopram Approved Phase 1 59729-33-8 2771
39 Antidepressive Agents Phase 1
40 Psychotropic Drugs Phase 1
41 Serotonin Uptake Inhibitors Phase 1
Serotonin Investigational, Nutraceutical Phase 1 50-67-9 5202
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
Enalapril Approved, Vet_approved 75847-73-3 40466924 5362032
Enalaprilat Approved 76420-72-9 6917719
Nitrendipine Approved, Investigational 39562-70-4 4507
Nitroglycerin Approved, Investigational 55-63-0 4510
Glycerol Approved, Investigational 56-81-5 753
Glycine Approved, Nutraceutical, Vet_approved 56-40-6 750

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial Comparing the Efficacy of Polyethylene Glycol Alone and Polyethylene Glycol Combined With Topical Diltiazem in Treating Anal fissure in Children Unknown status NCT02419534 Phase 4 Polyethylene glycol;Polyethylene glycol with Diltiazem
2 Randomised, Evaluation-blinded, Crossover, Controlled Study Assessing the Antispastic Efficacy and Safety of Dynamic Night Hand Splinting in Adults With Post-stroke Hemiplegia Treated by Botulimum Toxin (Dysport®) - (a Pilot Study) Unknown status NCT02888548 Phase 4
3 A Randomized, Controlled, Open-label, Parallel-group, Multi-center Study to Compare the Effect of Intrathecal Baclofen Therapy Versus Best Medical Treatment on Severe Spasticity in Post-stroke Patients After 6 Months Active Treatment Completed NCT01032239 Phase 4 intrathecal baclofen
4 Improvement After Botulinum Toxin A Injections to the Upper Extremities in Children With Cerebral Palsy Terminated NCT00549471 Phase 4
5 The Effect of Combining Robotic-Assisted Therapy With Levodopa/Carbidopa in Chronic Post-Stroke Upper-Limb Hemiparesis Withdrawn NCT02346630 Phase 4 Placebo;Levodopa / Carbidopa
6 Botulinum Toxin Type A and Kinesitherapy Use in the Functional Performance of Post-stroke Patients Unknown status NCT00999180 Phase 3
7 Study of the Efficacy of the Selective Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patient Following the ICF Model. A Prospective, Randomized, Controlled Single Blind Study Completed NCT00825097 Phase 3 Botulinum toxin injection
8 Pilot Study of Aprepitant Effect on Aldosterone Secretion in Diabetic Patient (Diabetes Mellitus) With Hypertension Associated With Low Renin Unknown status NCT02811055 Phase 2 Administration of Aprepitant;Administration of placebo
9 ASIS for Botox in Upper Limb Spasticity Unknown status NCT02074150 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
10 Effects of Strength Training on Upper-Limb Function in Post-Stroke Hemiparesis Completed NCT00037908 Phase 2
11 Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects Completed NCT00122044 Phase 2 trihexyphenidyl
13 Institutional Review Board of Chung Shan Medical University Hospital Completed NCT01099878 Phase 1, Phase 2
14 A Randomized, Double-blind Multicenter Pilot Study vs. Placebo for the Evaluation of Efficacy and Tolerability of Tauroursodeoxycholic Acid Administered by Oral Route as Add on Treatment in Patients Affected by Amyotrophic Lateral Sclerosis Completed NCT00877604 Phase 2 tauroursodeoxycholic acid (TUDCA);Placebo
15 Administration of Prostaglandin Gel for Cervical Priming During Induction of Labour Every 12 Hours Versus 24 Hours: a Randomized Superiority Controlled Trial Recruiting NCT04413890 Phase 2 Dinoprostone vaginal gel
16 Early Treatment of Paroxysmal Dysautonomia and Hypertonia for Severe Brain Injured Patients by Intrathecal Baclofen Therapy Terminated NCT00221689 Phase 2 baclofen (drug)
17 Effectiveness of Upper Airway Toning as Adjuvant Treatment in the Former Period of Adaptation of the Continuous Positive Airway Pressure Unknown status NCT01936038 Phase 1
18 Effects of Multichannel Transcranial Direct Current Stimulation to Reduce Hypertonia in Patients With Prolonged Disorders of Consciousness: a Pilot Study. Completed NCT03797573 Phase 1
19 Enhanced Motor Recovery Using Serotonergic Agents in Stroke Completed NCT01751854 Phase 1 SSRI;Placebo
20 Home Therapy for Upper Limb Stroke Rehabilitation Using the HandSOME Exoskeleton Recruiting NCT03263286 Phase 1
21 Assessment of the Efficacy of a Sensorimotor Approach After Maximum Three Sessions in Subjects With Symptomatic Temporomandibular Dysfunction (TMD) With Hypertonia: A Prospective, Multicenter Case Study. Unknown status NCT02632643
22 Investigation Into the Efficacy and Application of Non-invasive Sensor Technology to Produce a Community-based Seizure Alarm/Monitor for Epilepsy and Episodic Hyperexcitability Disorders. Unknown status NCT02110589
23 Effects of Long-term Foam Rolling Compared to Static Stretching on Hamstring Muscle Flexibility Unknown status NCT02808923
24 Impact of Listening to Low Tones Via Sterephonic Headphones on Hypertonia and Motor Function in Children With Cerebral Palsy- Randomized Controlled Study Unknown status NCT00394641
25 Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach. Unknown status NCT01744158
26 A Comparison of Craniosacral Therapy vs Pelvic Floor Physical Therapy for the Treatment of Lower Urinary Tract Dysfunction in People With Multiple Sclerosis: A Pilot Study Unknown status NCT03213522
27 Periodontal Disease as a Risk Indicator for Erectile Dysfunction - A Cross-sectional Study on 100 Patients Unknown status NCT01852240
28 Pain Perception of Children and Youth Receiving Non-sedated Botulinum Toxin-A Injections Using the Buzzy® Unknown status NCT02273284
29 Improving Stretching Interventions for Children With Cerebral Palsy Unknown status NCT02766491
30 Dysarthria in Parkinson's Disease: Lusophony vs. Francophony Comparison Unknown status NCT02753192
31 Quantification of Upper Extremity Hypertonia Completed NCT00285870
32 The Effects of Continuous Passive Motion on Hypertonia of Soleus in Individuals With Cerebral Palsy Completed NCT02003755
33 Initial Assessment of the Use of Surface Electromyography as a Tool for Clinical Evaluation of Hypertonia in Children Completed NCT00472914
34 MRI Evaluation of Change in Gluteal Muscles Following the Treatment With HIFEM Device Completed NCT03815747
35 Efficacy of Abdominal Treatment With High-Intensity Focused Electromagnetic (HIFEM) Field Device in Women After Childbirth Completed NCT03758690
36 Hypertonia in Patients With Cerebral Palsy Completed NCT00123708
37 The Effect of Continuous Passive Motion Training on Neuromuscular Adaptation Completed NCT01988142
38 MyoSense- Automated Muscle Hypertonicity Classification System Completed NCT02076581
39 Examination of Patients With Isolated Systolic Hypertonia (ISH) Under Therapy With ENEAS®. Completed NCT01074281 Enalapril maleate (10 mg) + nitrendipine (20 mg)
40 The Effects of Whole Body Vibration (WBV) on Muscle Stiffness and Reflex Activity in People After Stroke. Completed NCT03015545
41 Comparing the Effect of Focused and Radial Extracorporeal Shock Waves on Post-stroke Hypertonia Completed NCT03129529
42 Effectiveness of Dry Needling (DNHS Technique) in the Treatment of Upper Limb Spasticity and Function in Stroke Patients: a Randomized Clinical Trial Completed NCT02291159
43 Diabetes Mellitus - A Diagnosis Trial by Means of Non Invasive Measurements Completed NCT02028091
44 Use of Surface Electromyography Biofeedback to Improve Reaching in Children With Cerebral Palsy Completed NCT00473161
45 Integrated Botulinum Toxin for Improved Sitting Balance in Children With Cerebral Palsy: Body Functions to Activity and Participation Completed NCT03788317 Botulinum toxin type A
46 Role of Early Treatment With Botulinum Toxin in Adult Patients With Post-stroke Spasticity: an Observational Multicenter Study Completed NCT04404868
47 Effects of Continuous Passive Motion on the Spinal Circuitries and Its Adaptation in Patients With Spasticity Resulting From Upper Motor Neuron Lesions Completed NCT02122276
48 Optimal Interstimulus Interval For Consecutive H-Reflex Responses In Patients With Spasticity Completed NCT04005937
49 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390
50 Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity Completed NCT03209960

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:

Brain, Spinal Cord, Testes, Heart, Kidney, Eye, Skeletal Muscle

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 1757)
# Title Authors PMID Year
Spastic Diplegia in a Haitian Girl with Angelman Syndrome. 61
32341813 2020
Resistance training in stroke rehabilitation: systematic review and meta-analysis. 61
32527148 2020
Depressive symptomatology and personality traits in patients with symptomatic and asymptomatic peripheral arterial disease. 61
32571227 2020
Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. 61
32548670 2020
Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS). 61
32531460 2020
Addressing a Diagnosis of Brain Death in Hypernatremia Situation. 61
32204901 2020
A rare case of brain abscess caused by Actinomyces meyeri. 61
32460724 2020
Impaired neuromuscular transmission of the tibialis anterior in a rodent model of hypertonia. 61
32292122 2020
Biomechanics of starting, sprinting and submaximal running in athletes with brain impairment: A systematic review. 61
32507448 2020
Phrenic motor neuron loss in an animal model of early onset hypertonia. 61
32233911 2020
3-Methylglutaconic aciduria type VIII in an Indian neonate. 61
32445293 2020
Physical demands by para-footballers with cerebral palsy in a small-sided game. 61
32432446 2020
The natural history of infantile neuroaxonal dystrophy. 61
32357911 2020
Surgical treatment for atlantoaxial rotatory fixation in an adult with spastic torticollis: A case report. 61
32178992 2020
Case report of a familial triple: a syndrome and review of the literature. 61
32481456 2020
Efficacy of rituximab in patients with Graves' orbitopathy: a retrospective multicenter nationwide study. 61
32405700 2020
Characteristics of bladder recurrence after radical nephroureterectomy in upper urinary tract cancer 61
32427573 2020
Association between postural patterns of spastic upper extremity and functional independence after TBI and Stroke. 61
32508335 2020
Ghost spasticity in multiple sclerosis. 61
32120056 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. 61
32197074 2020
Loss of Piccolo Function in Rats Induces Cerebellar Network Dysfunction and Pontocerebellar Hypoplasia Type 3-like Phenotypes. 61
32122952 2020
The Impact of Intrathecal Baclofen Therapy on Health-related Quality of Life for Children with Marked Hypertonia. 61
32338172 2020
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia. 61
32319239 2020
C.292G>A, a novel glycine receptor alpha 1 subunit gene (GLRA1) mutation found in a Chinese patient with hyperekplexia: A case report. 61
32332682 2020
Effect of Eccentric Strength Training on Elbow Flexor Spasticity and Muscle Weakness in People With Multiple Sclerosis: Proof-of-Concept Single-System Case Series. 61
32266379 2020
Extracorporeal shock wave therapy for treatment of vulvodynia: a prospective, randomized, double-blind, placebo-controlled study. 61
31939265 2020
Activity limitation and match load in para-footballers with cerebral palsy: An approach for evidence-based classification. 61
31657483 2020
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations. 61
31908952 2020
Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations. 61
31836334 2020
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene. 61
31883110 2020
Home-based rehabilitation using a soft robotic hand glove device leads to improvement in hand function in people with chronic spinal cord injury:a pilot study. 61
32138780 2020
Sociodemographic and medical influences on neurobehavioral patterns in preterm infants: A multi-center study. 61
32007912 2020
Maximal Fully Tethered Swim Performance in Para Swimmers With Physical Impairment. 61
32131047 2020
[Psychomotor disadaptation syndrome]. 61
32157844 2020
Metabolic crisis after trivial head trauma in late-onset isolated sulfite oxidase deficiency: Report of two new cases and review of published patients. 61
31806255 2020
Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. 61
30894326 2020
[Analysis of the concept of the Zika Virus congenital syndrome]. 61
32022196 2020
Surgical Tone Reduction in Cerebral Palsy. 61
31760996 2020
Medical Updates in Management of Hypertonia. 61
31760994 2020
Fifteen-minute consultation: A clinical approach to the management of the child with hypertonia. 61
32051164 2020
Mirror movement-like muscle hypertonia stroke model based on ipsilateral weight load. 61
31923024 2020
Knee Muscle Stretch Reflex Responses After an Intrathecal Baclofen Bolus in Neurological Patients With Moderate-to-Severe Hypertonia. 61
32023360 2020
Altered Motoneuron Properties Contribute to Motor Deficits in a Rabbit Hypoxia-Ischemia Model of Cerebral Palsy. 61
32269513 2020
Neuronal vulnerability to fetal hypoxia-reoxygenation injury and motor deficit development relies on regional brain tetrahydrobiopterin levels. 61
31926630 2020
Asthmatic Airway Vagal Hypertonia Involves Chloride Dyshomeostasis of Preganglionic Neurons in Rats. 61
32082109 2020
Evidence for central antispastic effect of botulinum toxin type A. 61
31444910 2020
Latissimus Dorsi Flap in the Treatment of Thoracic Wall Defects After Medial Sternotomy. 61
32537043 2020
Identification and Management of Paroxysmal Sympathetic Hyperactivity After Traumatic Brain Injury. 61
32161563 2020
Cyclosporine-A-Based Immunosuppressive Therapy-Induced Neurotoxicity: A Case Report. 61
32431553 2020
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. 61
31970214 2020

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
2 SMC1A NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del)short repeat Pathogenic 180197 rs727503773 X:53439900-53439902 X:53412950-53412952
3 46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dncomplex Pathogenic 267812
4 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
5 TSEN54 NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)SNV Pathogenic/Likely pathogenic 2120 rs113994152 17:73518081-73518081 17:75522000-75522000
6 PRORP NM_014672.4(PRORP):c.1197dup (p.Ser400fs)duplication Likely pathogenic 638210 14:35649901-35649902 14:35180695-35180696
7 PRORP NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)SNV Likely pathogenic 638209 14:35735991-35735991 14:35266785-35266785
8 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)indel Likely pathogenic 523565 rs1555350397 14:57270986-57270988 14:56804268-56804270
9 CASK NM_003688.3(CASK):c.2221+1delinsATindel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
10 46;XY;t(2;14)(p22;q24.3)dnTranslocation Likely pathogenic 268037
11 CACNA1A NM_001127221.1(CACNA1A):c.6128C>T (p.Thr2043Met)SNV Uncertain significance 386521 rs563345694 19:13323262-13323262 19:13212448-13212448
12 COL6A2 NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala)SNV Uncertain significance 598977 rs753298014 21:47545737-47545737 21:46125823-46125823
13 ASXL1 NM_015338.5(ASXL1):c.664G>A (p.Glu222Lys)SNV Uncertain significance 433179 rs780662350 20:31017802-31017802 20:32429999-32429999

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

Pathways for Hypertonia

Pathways related to Hypertonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
11.51 AP4S1 AP4M1 AP4B1
2 10.91 AP4S1 AP4M1 AP4B1

GO Terms for Hypertonia

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

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network membrane GO:0032588 9.33 AP4S1 AP4M1 AP4B1
2 clathrin adaptor complex GO:0030131 9.26 AP4M1 AP4B1
3 endosome lumen GO:0031904 9.13 AP4S1 AP4M1 AP4B1
4 AP-4 adaptor complex GO:0030124 8.8 AP4S1 AP4M1 AP4B1

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

# Name GO ID Score Top Affiliating Genes
1 intracellular protein transport GO:0006886 9.43 AP4S1 AP4M1 AP4B1
2 vesicle-mediated transport GO:0016192 9.33 AP4S1 AP4M1 AP4B1
3 protein localization GO:0008104 9.13 AP4S1 AP4M1 AP4B1
4 protein targeting GO:0006605 8.8 AP4S1 AP4M1 AP4B1

Sources for Hypertonia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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