Hypertonia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia ⁵² ²⁸ ⁵ ⁷⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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Summaries for Hypertonia

NINDS: ⁵² 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 hyperekplexia and early infantile epileptic encephalopathy. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54). The drugs Acetylcholine and Trihexyphenidyl have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and globus pallidus, and related phenotype is mortality/aging.

Wikipedia: ⁷⁵ Hypertonia is a term sometimes used synonymously with spasticity and rigidity in the literature... more...

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Related Diseases for Hypertonia

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

(show top 50) (show all 281)

#	Related Disease	Score	Top Affiliating Genes
1	hyperekplexia	31.5	TRAK1 SLC6A5
2	early infantile epileptic encephalopathy	29.2	TRAK1 CASK BRAT1
3	microcephaly	28.8	TSEN54 SMC1A PRORP CASK BRAT1
4	pontocerebellar hypoplasia, type 4	11.1
5	phosphoserine aminotransferase deficiency	11.1
6	spasticity	11.0
7	microcephaly, postnatal progressive, with seizures and brain atrophy	11.0
8	combined oxidative phosphorylation deficiency 21	11.0
9	hyperekplexia 4	11.0
10	muscular hypertonia, lethal	11.0
11	alopecia-mental retardation syndrome 1	10.9
12	spinocerebellar degeneration and corneal dystrophy	10.9
13	dihydropyrimidine dehydrogenase deficiency	10.9
14	weaver syndrome	10.9
15	spastic paraplegia 50, autosomal recessive	10.9
16	spastic paraplegia 47, autosomal recessive	10.9
17	spastic paraplegia 52, autosomal recessive	10.9
18	keppen-lubinsky syndrome	10.9
19	neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities	10.9
20	developmental and epileptic encephalopathy 21	10.9
21	glycine encephalopathy with normal serum glycine	10.9
22	neurodevelopmental disorder with or without seizures and gait abnormalities	10.9
23	neurodevelopmental disorder with seizures and speech and walking impairment	10.9
24	spastic tetraplegia and axial hypotonia, progressive	10.9
25	combined oxidative phosphorylation deficiency 54	10.9
26	neurodegeneration, childhood-onset, with progressive microcephaly	10.9
27	microcephaly brain defect spasticity hypernatremia	10.9
28	hypotonia	10.9
29	dyskinetic cerebral palsy	10.8
30	spastic diplegia	10.8
31	hyperekplexia 1	10.8
32	chromosome 9p deletion syndrome	10.8
33	crigler-najjar syndrome, type i	10.8
34	hydroxykynureninuria	10.8
35	krabbe disease	10.8
36	lissencephaly 2	10.8
37	d-bifunctional protein deficiency	10.8
38	hyperphenylalaninemia, bh4-deficient, c	10.8
39	hyperphenylalaninemia, bh4-deficient, a	10.8
40	peroxisomal acyl-coa oxidase deficiency	10.8
41	developmental and epileptic encephalopathy 8	10.8
42	intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	10.8
43	ogden syndrome	10.8
44	neurodevelopmental disorder with epilepsy and hemochromatosis	10.8
45	intellectual disability-hypotonic facies syndrome, x-linked, 1	10.8
46	intellectual developmental disorder, x-linked, syndromic, snyder-robinson type	10.8
47	combined oxidative phosphorylation deficiency 1	10.8
48	congenital disorder of glycosylation, type iij	10.8
49	spastic paraplegia 51, autosomal recessive	10.8
50	tetrasomy 18p	10.8

Graphical network of the top 20 diseases related to Hypertonia:

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Symptoms & Phenotypes for Hypertonia

MGI Mouse Phenotypes related to Hypertonia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.17	CASK OTX2 PRORP SLC6A5 SMC1A TRAK1

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Drugs & Therapeutics for Hypertonia

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

(show all 27)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Acetylcholine

Approved, Investigational

Phase 1, Phase 2

51-84-3

187

2

Trihexyphenidyl

Approved

Phase 2

144-11-6

5572

3

Baclofen

Approved

Phase 2

1134-47-0

2284

4

Botulinum Toxins

Phase 1, Phase 2

5

abobotulinumtoxinA

Phase 1, Phase 2

6

Botulinum Toxins, Type A

Phase 1, Phase 2

7

Antiparkinson Agents

Phase 2

8

Muscarinic Antagonists

Phase 2

9

Cholinergic Antagonists

Phase 2

10

Cholinergic Agents

Phase 2

11

Neurotransmitter Agents

Phase 2

12

GABA Agonists

Phase 2

13

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

14

Tannic acid

Approved

1401-55-4

16129878 16129778

15

Nitrendipine

Approved, Investigational

39562-70-4

4507

16

Enalaprilat

Approved

76420-72-9

6917719 5462501

17

Enalapril

Approved, Vet_approved

75847-73-3

40466924 5388962 5362032

18

Maleic acid

Experimental, Investigational

110-16-7, 110-17-8

444266 444972

19

Hormones

20

Antihypertensive Agents

21

Angiotensin-Converting Enzyme Inhibitors

22

Vasodilator Agents

23

Calcium, Dietary

24

HIV Protease Inhibitors

25

calcium channel blockers

26

protease inhibitors

27

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show all 41)

#	Name	Status	NCT ID	Phase	Drugs
1	ASIS for Botox in Upper Limb Spasticity	Unknown status	NCT02074150	Phase 1, Phase 2	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
2	Childhood Hypertonia of Central Origin: An Open Label Trial of Anticholinergic Treatment Effects	Completed	NCT00122044	Phase 2	trihexyphenidyl
3	Early Treatment of Paroxysmal Dysautonomia and Hypertonia for Severe Brain Injured Patients by Intrathecal Baclofen Therapy	Terminated	NCT00221689	Phase 2	baclofen (drug)
4	Effects of Multichannel Transcranial Direct Current Stimulation to Reduce Hypertonia in Patients With Prolonged Disorders of Consciousness: a Pilot Study.	Completed	NCT03797573	Phase 1
5	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
6	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
7	Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach.	Unknown status	NCT01744158
8	Clinical Trial of Surface EMG Biofeedback for Children With Cerebral Palsy and Associated Movement Disorders	Unknown status	NCT01681888
9	Reactibility of Muscle Volume to Ribs Mobilization According to L.Mojzisova.	Unknown status	NCT04685785
10	Effects of Long-term Foam Rolling Compared to Static Stretching on Hamstring Muscle Flexibility	Unknown status	NCT02808923
11	The Effects of Continuous Passive Motion on Hypertonia of Soleus in Individuals With Cerebral Palsy	Completed	NCT02003755
12	Initial Assessment of the Use of Surface Electromyography as a Tool for Clinical Evaluation of Hypertonia in Children	Completed	NCT00472914
13	Comparing the Effect of Focused and Radial Extracorporeal Shock Waves on Post-stroke Hypertonia	Completed	NCT03129529
14	Quantification of Upper Extremity Hypertonia	Completed	NCT00285870
15	Hypertonia in Patients With Cerebral Palsy	Completed	NCT00123708
16	Examination of Patients With Isolated Systolic Hypertonia (ISH) Under Therapy With ENEAS®.	Completed	NCT01074281		Enalapril maleate (10 mg) + nitrendipine (20 mg)
17	Use of Surface Electromyography Biofeedback to Improve Reaching in Children With Cerebral Palsy	Completed	NCT00473161
18	Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity	Completed	NCT03209960
19	Evaluation of the Effect of the Presence Of Clowns on Pain and Anxiety Seen During Injections Botulinum Toxin in Child	Completed	NCT03149263
20	Optimal Interstimulus Interval For Consecutive H-Reflex Responses In Patients With Spasticity	Completed	NCT04005937
21	From Research to Clinical Practice. Applying an Algorithm for Prognosis of Upper Limb Paresis in Patients With Subacute Stroke	Completed	NCT03632499
22	Dynamic Lycra Orthosis as an Adjunct to Botulinum Toxin-A Injection of the Upper Limb in Adults Following Stroke: A Single-blinded Randomized Controlled Trial	Completed	NCT03546959		Botulinum Toxin
23	Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility	Completed	NCT03250988
24	Using Telemedicine to Improve Spasticity Diagnosis Rates	Completed	NCT03211390
25	Effectiveness of Combining Matrix Rhythm Therapy and Bobath Toncept on Increased Muscle Tone, Balance and Gait Parameters in Stroke Individuals With Spastic Hemiparesis: A Single-Blind, Randomized, Controlled Clinical Trial	Completed	NCT04213417
26	MRI Evaluation of Change in Gluteal Muscles Following the Treatment With HIFEM Device	Completed	NCT03815747
27	MyoSense- Automated Muscle Hypertonicity Classification System	Completed	NCT02076581
28	The Association Between Ankle Mobility and Achilles Tendon, Plantar Fascia, Iliotibial Band Stiffness and Elasticity in Athletes	Completed	NCT04737226
29	The Effects of Cranial Laser Reflex Technique on Hamstring Flexibility, Strength, and Pain Pressure Threshold: a Pilot Study	Completed	NCT03044106
30	Efficacy of Abdominal Treatment With High-Intensity Focused Electromagnetic (HIFEM) Field Device in Women After Childbirth	Completed	NCT03758690
31	Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus)	Completed	NCT03176069
32	Efficacy of HIFEM Treatments for Strengthening and Toning of Arms, Lower Limbs and Oblique Muscles	Completed	NCT04426526
33	Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia	Recruiting	NCT05527652
34	The Effect of Manual Therapy and Therapeutic Exercises on Mandibular Analgesia, Muscles Relaxation, and Range of Motion in Patients With Masticatory Muscles Disorder	Recruiting	NCT05619380
35	A Natural History Study of hnRNP and Other Gene-related Disorders	Recruiting	NCT03492060
36	Study on Quantitative Evaluation of Muscle Tone Using Elastic Ultrasound	Recruiting	NCT04275401
37	Safety and Efficacy of Electrical Muscle Stimulation Combined With 1064 nm Diode Laser, Pulsed Electromagnetic Field (PEMF) and Vacuum Assisted Radio Frequency (RF) for Non-invasive Body Contouring and Fat Reduction.	Recruiting	NCT05256771
38	The Effect of Different Physiotherapeutic Stimuli on Mandibular Analgesia and Range of Motion in Patients With Masticatory Muscles Disorder.	Not yet recruiting	NCT05021874
39	Grand Autohemo-Therapy With Oxygen-ozone on Patients With Hypertonia	Terminated	NCT01902602
40	The Effect of Treatment With the Doublestim™ Neuromodulation System Incorporating Transcutaneous Spinal Direct Current Stimulation Paired With Robotic Therapy in Patients With Wrist Spasticity After Stroke	Terminated	NCT04113525
41	Effect of Local Pressure Application on Muscle Activity and General Relaxation in Persons With Hypertonia Following Stroke	Withdrawn	NCT04188769

Search NIH Clinical Center for Hypertonia

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Genetic Tests for Hypertonia

Genetic tests related to Hypertonia:

#	Genetic test	Affiliating Genes
1	Hypertonia ²⁸

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Anatomical Context for Hypertonia

Organs/tissues related to Hypertonia:

MalaCards : Spinal Cord, Brain, Globus Pallidus, Heart, Skeletal Muscle, Smooth Muscle, Caudate Nucleus

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Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 1978)

#	Title	Authors	PMID	Year
1	Non-REM sleep with hypertonia in Parkinsonian Spectrum Disorders: A pilot investigation. ⁶²	Levendowski DJ...St Louis EK	36274383	2022
2	TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. ⁶²	Hijazi H...Lupski JR	36368327	2022
3	Repeat corneal transplantation: indication, surgical technique, and early graft failures trends in France from 2004 to 2019. ⁶²	Noureddine S...Gauthier AS	35037182	2022
4	A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy. ⁶²	Dasar T...Boduroglu K	36195292	2022
5	Plasmatic catecholamines after neuraxial labour analgesia: A randomised controlled trial comparing epidural versus combined spinal-epidural. ⁶²	Andrade Santos S...Edson Vieira J	36067925	2022
6	Pelvic floor dysfunction at transperineal ultrasound and chronic constipation in women with endometriosis. ⁶²	Raimondo D...Seracchioli R	34995357	2022
7	Bilateral anterior uveitis following paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 - Case report and focused review. ⁶²	Vienne-Jumeau A...Debieb A	36383060	2022
8	Risk factors of rejection after penetrating keratoplasty: a retrospective monocentric study. ⁶²	Debourdeau E...Daien V	35546638	2022
9	Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. ⁶²	Becker A...Bonnet C	36371792	2022
10	Enhanced nociceptive behavior and expansion of associated primary afferents in a rabbit model of cerebral palsy. ⁶²	Reedich EJ...Quinlan KA	35839339	2022
11	HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. ⁶²	Wang Y...Mei S	35985664	2022
12	Cerebral Palsy: Current Concepts and Practices in Musculoskeletal Care. ⁶²	Sheu J...Pham KLD	36180545	2022
13	Lasting Peripheral and Central Effects of Botulinum Toxin Type A on Experimental Muscle Hypertonia in Rats. ⁶²	Sostaric P...Matak I	36232926	2022
14	Fatty liver and atherogenic dyslipidemia have opposite effects on diabetic micro- and macrovascular disease. ⁶²	Hermans MP...Rousseau MF	36116326	2022
15	Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review. ⁶²	He P...Yuan H	36218002	2022
16	Isokinetic Resistance Training for Ankle Plantarflexor Spasticity and Muscle Weakness in People with Multiple Sclerosis: A Proof-of-Concept Case Series. ⁶²	Ventura L...Manca A	36222464	2022
17	[Pilot study: evaluation of manual methods for modulating the cardinal symptom tinnitus : A prospective randomized study]. ⁶²	Fobbe A...Sturm C	35920880	2022
18	[How to treat spasticity after stroke ?] ⁶²	Vogel L...Depierreux F	36082592	2022
19	Paratonia, Gegenhalten and psychomotor hypertonia Back to the roots. ⁶²	Foucher JR...Shorter E	36155159	2022
20	Contribution of Different Impairments to Restricted Knee Flexion during Gait in Individuals with Cerebral Palsy. ⁶²	Manikowska F...Lebiedowska MK	36294708	2022
21	Effects of ankle continuous passive motion on soleus hypertonia in individuals with cerebral palsy: A case series. ⁶²	Chuang LL...Chang YJ	34332162	2022
22	CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia. ⁶²	Consales A...Bedeschi MF	35987847	2022
23	Acupuncture alleviates spinal hyperreflexia and motor dysfunction in post-ischemic stroke rats with spastic hypertonia via KCC2-mediated spinal GABAA activation. ⁶²	Mu JD...Wang JX	35245503	2022
24	Demographic Features, Physical Examination Findings, and Medication Use in Hospitalized, Delirious Patients With and Without COVID-19 Infection: A Retrospective Study. ⁶²	Beckwith N...Beach SR	35948255	2022
25	Effects of dry needling on function, hypertonia and quality of life in chronic stroke: a randomized clinical trial. ⁶²	Calvo S...Herrero P	34894776	2022
26	Ultrasonography Comparison of Pelvic Floor and Abdominal Wall Muscles in Women with and without Dyspareunia: A Cross-Sectional Study. ⁶²	Castellanos-Lopez E...Romero-Morales C	36010178	2022
27	Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging. ⁶²	Huang H...Cao L	35775132	2022
28	A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder. ⁶²	Ullah A...Basit S	35460391	2022
29	Clinical, genetic, and functional characterization of the glycine receptor β-subunit A455P variant in a family affected by hyperekplexia syndrome. ⁶²	Aboheimed GI...Ruiz AJ	35526563	2022
30	Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes. ⁶²	Ferraroli E...Battaglia DI	35636282	2022
31	Case Report of Neonatal Sotos Syndrome with a New Missense Mutation in the NSD1 Gene and Literature Analysis in the Chinese Han Population. ⁶²	Jin HY...Qiang S	35888687	2022
32	A Rare Case of Pontocerebellar Hypoplasia Type 1B With Literature Review. ⁶²	Spyridakis AC...Litra F	36004024	2022
33	Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant. ⁶²	Alallah J...AlHarbi AT	35663789	2022
34	Terminal H-reflex Measurements in Mice. ⁶²	Wieters F...Aswendt M	35781283	2022
35	Task and ecologically based assessment of upper-limb passive function before and after botulinum injections in adults with stroke using the Upper-Limb Performance Assessment: French cross-cultural adaptation and feasibility pilot study. ⁶²	Villepinte C...Gasq D	35701095	2022
36	The use of surface EMG in neurorehabilitation following traumatic spinal cord injury: A scoping review. ⁶²	Balbinot G...Zariffa J	35364465	2022
37	Effects of the Structured Water Dance Intervention (SWAN) on muscular hypertonia in adults with profound intellectual and multiple disabilities. ⁶²	Lundqvist LO...Duberg A	35610353	2022
38	Time course response after single injection of botulinum toxin to treat spasticity after stroke: Systematic review with pharmacodynamic model-based meta-analysis. ⁶²	Ojardias E...Bertoletti L	34634514	2022
39	A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report. ⁶²	Ahn JH...Lee BL	35777792	2022
40	Molybdenum cofactor deficiency: A natural history. ⁶²	Spiegel R...Confer N	35192225	2022
41	Which is the Most Common Physiologic Type of Cerebral Palsy? ⁶²	Kamate M...Detroja M	35864637	2022
42	Hyperthyroidism in Graves Disease Causes Sleep Disorders Related to Sympathetic Hypertonia. ⁶²	Matsumoto K...Yamamoto K	35022743	2022
43	Spectrum of Movement Disorders and Correlation with Functional Status in Children with Cerebral Palsy. ⁶²	Suresh N...Sharma S	34097232	2022
44	Az obstruktív alvási apnoe főbb jellemzőinek vizsgálata. ⁶²	Molnar V...Tamas L	35398816	2022
45	Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series. ⁶²	Cheung A...Braverman N	35106698	2022
46	Cost-effectiveness of upper extremity dry needling in the rehabilitation of patients with stroke. ⁶²	Fernandez Sanchis D...Gomez Barrera M	34856821	2022
47	Effects of Pharmacologic Treatment for Neonatal Abstinence Syndrome on DNA Methylation and Neurobehavior: A Prospective Cohort Study. ⁶²	Camerota M...Lester BM	34971656	2022
48	Prevalence and Treatment Characteristics of Spastic Hypertonia on First-Time Admission to Acute Inpatient Rehabilitation. ⁶²	Dragojlovic N...Francisco GE	34121067	2022
49	An Observational Cross-Sectional Study of Gender and Disability as Determinants of Person-Centered Medicine in Botulinum Neurotoxin Treatment of Upper Motoneuron Syndrome. ⁶²	Del Prete CM...Pellegrino R	35448855	2022
50	Two-year follow-up of children with congenital Zika syndrome: the evolution of clinical patterns. ⁶²	Rua EC...Fernandes AR	34661750	2022

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Genes for Hypertonia

Genes related to Hypertonia (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TSEN54	TRNA Splicing Endonuclease Subunit 54	Protein Coding	407.43	Pathogenic ⁵ GeneCards inferred via : Disorders (show sections)
2	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	400	Pathogenic ⁵
3	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	25	Likely pathogenic ⁵
4	OTX2	Orthodenticle Homeobox 2	Protein Coding	25	Likely pathogenic ⁵
5	PRORP	Protein Only RNase P Catalytic Subunit	Protein Coding	25	Likely pathogenic ⁵
6	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	15.65	GeneCards inferred via : Disorders Publications (show sections)
7	TRAK1	Trafficking Kinesin Protein 1	Protein Coding	7.94	GeneCards inferred via : Publications (show sections)
8	SLC6A5	Solute Carrier Family 6 Member 5	Protein Coding	7.78	GeneCards inferred via : Disorders (show sections)

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Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMC1A	NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)	MICROSAT	Pathogenic	180197	rs727503773	GRCh37: X:53439900-53439902 GRCh38: X:53412950-53412952
2	overlap with 4 genes	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	CN LOSS	Pathogenic	523261		GRCh37: 17:2339561-2826073 GRCh38:
3	TSEN54	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	SNV	Pathogenic	2120	rs113994152	GRCh37: 17:73518081-73518081 GRCh38: 17:75522000-75522000
4	CASK	NM_001367721.1(CASK):c.2236+1delinsAT	INDEL	Likely Pathogenic	523464	rs1555975523	GRCh37: X:41394145-41394145 GRCh38: X:41534892-41534892
5	OTX2	NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)	INDEL	Likely Pathogenic	523565	rs1555350397	GRCh37: 14:57270986-57270988 GRCh38: 14:56804268-56804270
6	PRORP	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	SNV	Likely Pathogenic	638209	rs777185638	GRCh37: 14:35735991-35735991 GRCh38: 14:35266785-35266785
7	PRORP	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	DUP	Likely Pathogenic	638210	rs764714439	GRCh37: 14:35649901-35649902 GRCh38: 14:35180695-35180696
8	COL6A2	NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)	SNV	Uncertain Significance	598977	rs753298014	GRCh37: 21:47545737-47545737 GRCh38: 21:46125823-46125823
9	CACNA1A	NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)	SNV	Uncertain Significance	386521	rs563345694	GRCh37: 19:13323262-13323262 GRCh38: 19:13212448-13212448
10	ASXL1	NM_015338.6(ASXL1):c.664G>A (p.Glu222Lys)	SNV	Uncertain Significance	433179	rs780662350	GRCh37: 20:31017802-31017802 GRCh38: 20:32429999-32429999

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Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

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Pathways for Hypertonia

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GO Terms for Hypertonia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	tRNA processing	GO:0008033	8.62	TSEN54 PRORP

Sources

Sources for Hypertonia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HYP264 MIFTS: 35	Hypertonia Categories: Muscle diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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