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

MCID: HYP264 MIFTS: 36	Hypertonia Categories: Muscle diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Hypertonia

MalaCards integrated aliases for Hypertonia:

Name: Hypertonia ⁵³ ²⁹ ⁶

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

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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 mental retardation and microcephaly with pontine and cerebellar hypoplasia and pathologic nystagmus. An important gene associated with Hypertonia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways is CXCR4-mediated signaling events. The drugs Acetylcholine and Trihexyphenidyl have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and eye, and related phenotype is mortality/aging.

Wikipedia : ⁷³ 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 221)

#	Related Disease	Score	Top Affiliating Genes
1	mental retardation and microcephaly with pontine and cerebellar hypoplasia	30.8	TSEN54 CASK
2	pathologic nystagmus	29.1	OTX2 GNB1 CASK
3	microcephaly	27.8	TSEN54 SMC1A PRORP OTX2 GNB1 CASK
4	hyperekplexia	11.2
5	pontocerebellar hypoplasia, type 4	11.1
6	phosphoserine aminotransferase deficiency	11.1
7	spasticity	11.0
8	hyperekplexia 4	11.0
9	muscular hypertonia, lethal	11.0
10	peroxisomal acyl-coa oxidase deficiency	10.9
11	dihydropyrimidine dehydrogenase deficiency	10.9
12	weaver syndrome	10.9
13	cleft palate, cardiac defect, genital anomalies, and ectrodactyly	10.9
14	spastic paraplegia 50, autosomal recessive	10.9
15	spastic paraplegia 47, autosomal recessive	10.9
16	spastic paraplegia 52, autosomal recessive	10.9
17	keppen-lubinsky syndrome	10.9
18	developmental and epileptic encephalopathy 21	10.9
19	combined oxidative phosphorylation deficiency 21	10.9
20	glycine encephalopathy with normal serum glycine	10.9
21	neurodevelopmental disorder with or without seizures and gait abnormalities	10.9
22	neurodevelopmental disorder with seizures and speech and walking impairment	10.9
23	spastic tetraplegia and axial hypotonia, progressive	10.9
24	8p inverted duplication/deletion syndrome	10.9
25	hypotonia	10.9
26	dyskinetic cerebral palsy	10.8
27	spastic diplegia	10.8
28	hyperekplexia 1	10.8
29	chromosome 9p deletion syndrome	10.8
30	crigler-najjar syndrome, type i	10.8
31	hydroxykynureninuria	10.8
32	krabbe disease	10.8
33	lissencephaly 2	10.8
34	d-bifunctional protein deficiency	10.8
35	hyperphenylalaninemia, bh4-deficient, c	10.8
36	hyperphenylalaninemia, bh4-deficient, a	10.8
37	spinocerebellar degeneration and corneal dystrophy	10.8
38	sulfite oxidase deficiency, isolated	10.8
39	aicardi syndrome	10.8
40	myoglobinuria, recurrent	10.8
41	seizures, benign familial infantile, 1	10.8
42	microcephaly, postnatal progressive, with seizures and brain atrophy	10.8
43	spastic paraplegia 51, autosomal recessive	10.8
44	tetrasomy 18p	10.8
45	thiamine metabolism dysfunction syndrome 5	10.8
46	hyperekplexia 3	10.8
47	mitochondrial complex iii deficiency, nuclear type 8	10.8
48	developmental and epileptic encephalopathy 25, with amelogenesis imperfecta	10.8
49	mitochondrial dna depletion syndrome 14	10.8
50	mental retardation, autosomal dominant 42	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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	9.23	CASK GNB1 HGS OTX2 PRORP SMC1A

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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

Acetylcholine

Approved, Investigational

Phase 1, Phase 2

51-84-3

187

Trihexyphenidyl

Approved

Phase 2

58947-95-8, 144-11-6

5572

Baclofen

Approved

Phase 2

1134-47-0

2284

Botulinum Toxins

Phase 1, Phase 2

abobotulinumtoxinA

Phase 1, Phase 2

Botulinum Toxins, Type A

Phase 1, Phase 2

Cholinergic Agents

Phase 2

Muscarinic Antagonists

Phase 2

Cholinergic Antagonists

Phase 2

Antiparkinson Agents

Phase 2

Neurotransmitter Agents

Phase 2

GABA Agonists

Phase 2

tannic acid

Approved

1401-55-4

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Nitrendipine

Approved, Investigational

39562-70-4

4507

Enalaprilat

Approved

76420-72-9

6917719

Enalapril

Approved, Vet_approved

75847-73-3

5362032 40466924

Maleic acid

Experimental

110-16-7

444266

Vasodilator Agents

Antihypertensive Agents

Angiotensin-Converting Enzyme Inhibitors

protease inhibitors

calcium channel blockers

Hormones

HIV Protease Inhibitors

Calcium, Dietary

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show all 35)

#	Name	Status	NCT ID	Phase	Drugs
1	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
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	Exploring Hypertonia in Children With Cerebral Palsy- a Population-based Approach.	Unknown status	NCT01744158
6	Effects of Long-term Foam Rolling Compared to Static Stretching on Hamstring Muscle Flexibility	Unknown status	NCT02808923
7	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
8	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
9	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
10	Optimal Interstimulus Interval For Consecutive H-Reflex Responses In Patients With Spasticity	Completed	NCT04005937
11	Myofascial Trigger Points Release With Shockwave Therapy on Pain and Function of Shoulder Hand Syndrome in Stroke Patients With Diabetic Neuropathy	Completed	NCT04627636
12	Quantification of Upper Extremity Hypertonia	Completed	NCT00285870
13	Comparing the Effect of Focused and Radial Extracorporeal Shock Waves on Post-stroke Hypertonia	Completed	NCT03129529
14	Hypertonia in Patients With Cerebral Palsy	Completed	NCT00123708
15	Initial Assessment of the Use of Surface Electromyography as a Tool for Clinical Evaluation of Hypertonia in Children	Completed	NCT00472914
16	Examination of Patients With Isolated Systolic Hypertonia (ISH) Under Therapy With ENEAS®.	Completed	NCT01074281		Enalapril maleate (10 mg) + nitrendipine (20 mg)
17	The Effects of Continuous Passive Motion on Hypertonia of Soleus in Individuals With Cerebral Palsy	Completed	NCT02003755
18	The Effects of Cranial Laser Reflex Technique on Hamstring Flexibility, Strength, and Pain Pressure Threshold: a Pilot Study	Completed	NCT03044106
19	Efficacy of HIFEM Treatments for Strengthening and Toning of Arms, Lower Limbs and Oblique Muscles	Completed	NCT04426526
20	Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus)	Completed	NCT03176069
21	MRI Evaluation of Change in Gluteal Muscles Following the Treatment With HIFEM Device	Completed	NCT03815747
22	Evaluation of the Effect of the Presence Of Clowns on Pain and Anxiety Seen During Injections Botulinum Toxin in Child	Completed	NCT03149263
23	Efficacy of Abdominal Treatment With High-Intensity Focused Electromagnetic (HIFEM) Field Device in Women After Childbirth	Completed	NCT03758690
24	Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility	Completed	NCT03250988
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	Using Telemedicine to Improve Spasticity Diagnosis Rates	Completed	NCT03211390
27	Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity	Completed	NCT03209960
28	MyoSense- Automated Muscle Hypertonicity Classification System	Completed	NCT02076581
29	A Natural History Study of hnRNP-related Disorders	Recruiting	NCT03492060
30	Study on Quantitative Evaluation of Muscle Tone Using Elastic Ultrasound	Recruiting	NCT04275401
31	The Association Between Ankle Mobility and Achilles Tendon, Plantar Fascia, Iliotibial Band Stiffness and Elasticity in Athletes	Active, not recruiting	NCT04737226
32	Reactibility of Muscle Volume to Ribs Mobilization According to L.Mojzisova.	Enrolling by invitation	NCT04685785
33	Efficacy of Dry Needling in the Spasticity of the Hemiparetic Limbs Post-stroke	Not yet recruiting	NCT04435561
34	Effect of Local Pressure Application on Muscle Activity and General Relaxation in Persons With Hypertonia Following Stroke	Not yet recruiting	NCT04188769
35	Grand Autohemo-Therapy With Oxygen-ozone on Patients With Hypertonia	Terminated	NCT01902602

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 ²⁹

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Anatomical Context for Hypertonia

MalaCards organs/tissues related to Hypertonia:

⁴⁰

Brain, Spinal Cord, Eye, Heart, Cortex, Skeletal Muscle, Uterus

Sources

Publications for Hypertonia

Articles related to Hypertonia:

(show top 50) (show all 1841)

#	Title	Authors	PMID	Year
1	A Description of Novel Variants and Review of Phenotypic Spectrum in UBA5-related Early Epileptic Encephalopathy. ⁶¹	Briere LC...Sweetser DA	33811063	2021
2	Partial Division of Puborectalis Muscle with Lateral Internal Sphincterotomy: A Novel Surgical Technique for Management of Anal Hypertonia-Associated Anismus. ⁶¹	Abdelnaby M...Emile SH	33481084	2021
3	Neurobehaviour of very preterm infants at term equivalent age is related to early childhood outcomes. ⁶¹	Meether M...Pineda R	32985000	2021
4	Trapped fourth ventricle: A case report and review of literature. ⁶¹	Dauda HA...Sale D	33621724	2021
5	Muscle Tone Assessment under General Anesthesia for Sjögren-Larsson Syndrome and Spasticity. ⁶¹	Georgoulis G...Gkliatis E	33725695	2021
6	Re. Alcantara et al. Cryotherapy reduces muscle hypertonia, but does not affect lower limb strength or gait kinematics post-stroke: a randomized controlled crossover study. Top Stroke Rehabil 2019; 26(4): 267-280. ⁶¹	Couto MCD	32886572	2021
7	Dravet syndrome with parkinsonian symptoms and intact dopaminergic neurons: A case report. ⁶¹	Kanatani M...Hanajima R	33199159	2021
8	Rescue of two trafficking-defective variants of the neuronal glycine transporter GlyT2 associated to hyperekplexia. ⁶¹	Rocha-Munoz A...Lopez-Corcuera B	33794243	2021
9	Musculoskeletal Pathology in Cerebral Palsy: A Classification System and Reliability Study. ⁶¹	Graham HK...Rutz E	33807084	2021
10	Diaphragm neuromuscular transmission failure in a mouse model of an early-onset neuromotor disorder. ⁶¹	Fogarty MJ...Sieck GC	33382958	2021
11	Early escitalopram administration as a preemptive treatment strategy against spasticity after contusive spinal cord injury in rats. ⁶¹	Ryu Y...Fujita N	33782426	2021
12	Combinatorial K-Means Clustering as a Machine Learning Tool Applied to Diabetes Mellitus Type 2. ⁶¹	Nedyalkova M...Simeonov V	33671157	2021
13	Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. ⁶¹	Diociaiuti A...El Hachem M	33652762	2021
14	EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. ⁶¹	Calame DG...Chao HT	33553620	2021
15	Contractile function of detrusor smooth muscle from children with posterior urethral valves - The role of fibrosis. ⁶¹	Johal N...Fry CH	33214068	2021
16	Clinical value of omega-3 polyunsaturated fatty acid supplementation in chronic obstructive pulmonary disease ⁶¹	Fekete M...Varga JT	33388735	2021
17	The adverse effects of bisphosphonates in breast cancer: A systematic review and network meta-analysis. ⁶¹	Jackson C...Spiegelhalter DJ	33544765	2021
18	Case Report: Ziprasidone induced neuroleptic malignant syndrome. ⁶¹	Sedhai YR...Pokhrel S	33763203	2021
19	The Use of Botulinum Toxin for Treatment of Spasticity. ⁶¹	Li S...Francisco GE	31820170	2021
20	Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report. ⁶¹	Jiao J...Ma L	33397303	2021
21	Patterns of atypical muscle tone in the general infant population - Prevalence and associations with perinatal risk and neurodevelopmental status. ⁶¹	Straathof EJM...Hadders-Algra M	33220644	2021
22	Introduction to spasticity and related mouse models. ⁶¹	Wieters F...Aswendt M	33007294	2021
23	Classification of Congenital Zika Syndrome: Muscle Tone, Motor Type, Body Segments Affected, and Gross Motor Function. ⁶¹	Tavares JS...Melo A	33393410	2021
24	Congenital immobility and stiffness related to biallelic ATAD1 variants. ⁶¹	Bunod R...Mignot C	33134516	2020
25	Growth and survival characteristics of spa mice. ⁶¹	Brandenburg JE...Sieck GC	33532707	2020
26	Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay. ⁶¹	Lin YF...Yang CF	33318932	2020
27	Cluster analysis of impairment measures to inform an evidence-based classification structure in RaceRunning, a new World Para Athletics event for athletes with hypertonia, ataxia or athetosis. ⁶¹	van der Linden ML...Verheul MHG	33337948	2020
28	DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. ⁶¹	Meissner LE...Adams DR	33159716	2020
29	Anthropometrical Features of Para-Footballers According to Their Cerebral Palsy Profiles and Compared to Controls. ⁶¹	Sarabia JM...Reina R	33291750	2020
30	Relations between knee and ankle muscle coactivation and temporospatial gait measures in patients without hypertonia early after stroke. ⁶¹	Chow JW...Stokic DS	33063171	2020
31	Biomechanics of starting, sprinting and submaximal running in athletes with brain impairment: A systematic review. ⁶¹	Fiorese BA...Tweedy SM	32507448	2020
32	Long term outcomes of fissurectomy and anoplasty for chronic anterior anal fissure without hypertonia: low recurrences and continence conservation. ⁶¹	D'Orazio B...Di Vita G	33764329	2020
33	Successful surgical treatment of a rare, large adrenal hemangioma ⁶¹	Ottlakan A...Lazar G	33226356	2020
34	Speech-language disorders in children with congenital Zika virus syndrome: A systematic review. ⁶¹	Cristina da Silva Rosa B...Lewis DR	32853874	2020
35	Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. ⁶¹	Li X...Chen WX	33153448	2020
36	Movement disorders in children with congenital Zika virus syndrome. ⁶¹	van der Linden H...Paciorkowski A	32682638	2020
37	The orthopaedic aspect of spastic cerebral palsy. ⁶¹	Skoutelis VC...Papagelopoulos PJ	33214743	2020
38	The Impact of Intrathecal Baclofen Therapy on Health-related Quality of Life for Children with Marked Hypertonia. ⁶¹	Stewart K...Lewis J	32338172	2020
39	Analgesic injection of botulinum toxin in anal fissures is efficient and can be performed safely in patients actively receiving chemotherapy. ⁶¹	Roelandt P...Wyndaele J	32712827	2020
40	Conus-level combined dorsal and ventral lumbar rhizotomy for treatment of mixed hypertonia: technical note and complications. ⁶¹	Ahluwalia R...Naftel RP	33036004	2020
41	Fifteen-minute consultation: A clinical approach to the management of the child with hypertonia. ⁶¹	Lumsden DE...Cadwgan J	32051164	2020
42	Knee Muscle Stretch Reflex Responses After an Intrathecal Baclofen Bolus in Neurological Patients With Moderate-to-Severe Hypertonia. ⁶¹	Chow JW...Stokic DS	32023360	2020
43	Toxicoepidemiology and predictors of death in 2,4-dinitrophenol (DNP) toxicity. ⁶¹	Potts AJ...Thomas SHL	33021407	2020
44	Surgical Sphincter Saving Approach and Topical Nifedipine for Chronic Anal Fissure with Hypertonic Internal Anal Sphincter. ⁶¹	D'Orazio B...Geraci G	33138895	2020
45	Rare homozygous nonsense variant in AIMP1 causing Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS). ⁶¹	Gupta S...Segal E	32531460	2020
46	[Anal tone: Physiology, clinical and instrumental characteristics]. ⁶¹	Amarenco G...Hentzen C	32636059	2020
47	Death in delirious palliative-care patients occurs irrespective of age: A prospective, observational cohort study of 229 delirious palliative-care patients. ⁶¹	Seiler A...Boettger S	32928325	2020
48	Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. ⁶¹	Sindou M...Georgoulis G	32548670	2020
49	BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. ⁶¹	Scheffer IE...Mefford HC	31868227	2020
50	Resistance training in stroke rehabilitation: systematic review and meta-analysis. ⁶¹	Veldema J...Jansen P	32527148	2020

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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	414.61	Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
2	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	406.36	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	PRORP	Protein Only RNase P Catalytic Subunit	Protein Coding	31.71	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	31.36	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	OTX2	Orthodenticle Homeobox 2	Protein Coding	31.36	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	BRAT1	BRCA1 Associated ATM Activator 1	Protein Coding	15.06	GeneCards inferred via : Disorders Publications (show sections)
7	GNB1	G Protein Subunit Beta 1	Protein Coding	7.17	GeneCards inferred via : Variants (show sections)
8	TRAK1	Trafficking Kinesin Protein 1	Protein Coding	7.06	GeneCards inferred via : Publications (show sections)
9	HGS	Hepatocyte Growth Factor-Regulated Tyrosine Kinase Substrate	Protein Coding	6.86	GeneCards inferred via : Publications (show sections)

Sources

Variations for Hypertonia

ClinVar genetic disease variations for Hypertonia:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SMC1A	NM_001281463.1(SMC1A):c.730_732AAG[2] (p.Lys246del)	Microsatellite	Pathogenic	180197	rs727503773	GRCh37: X:53439900-53439902 GRCh38: X:53412950-53412952
2	TSEN54	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	SNV	Pathogenic	2120	rs113994152	GRCh37: 17:73518081-73518081 GRCh38: 17:75522000-75522000
3	overlap with 4 genes	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	copy number loss	Pathogenic	523261		GRCh37: 17:2339561-2826073 GRCh38:
4	PRORP	NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	Duplication	Likely pathogenic	638210	rs764714439	GRCh37: 14:35649901-35649902 GRCh38: 14:35180695-35180696
5	PRORP	NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	SNV	Likely pathogenic	638209	rs777185638	GRCh37: 14:35735991-35735991 GRCh38: 14:35266785-35266785
6	OTX2	NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)	Indel	Likely pathogenic	523565	rs1555350397	GRCh37: 14:57270986-57270988 GRCh38: 14:56804268-56804270
7	CASK	NM_001367721.1(CASK):c.2236+1delinsAT	Indel	Likely pathogenic	523464	rs1555975523	GRCh37: X:41394145-41394145 GRCh38: X:41534892-41534892
8	ASXL1	NM_015338.5(ASXL1):c.664G>A (p.Glu222Lys)	SNV	Uncertain significance	433179	rs780662350	GRCh37: 20:31017802-31017802 GRCh38: 20:32429999-32429999
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	COL6A2	NM_001849.3(COL6A2):c.2008A>G (p.Thr670Ala)	SNV	Uncertain significance	598977	rs753298014	GRCh37: 21:47545737-47545737 GRCh38: 21:46125823-46125823

Sources

Expression for Hypertonia

Search GEO for disease gene expression data for Hypertonia.

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Pathways for Hypertonia

Pathways related to Hypertonia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	CXCR4-mediated signaling events ¹	10.5	HGS GNB1

Sources

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 BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia