MCID: HYP265
MIFTS: 46

Hypotonia

Categories: Muscle diseases, Neuronal diseases
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Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 52 28 5 75

Classifications:



Summaries for Hypotonia

NINDS: 52 Hypotonia is a medical term used to describe decreased muscle tone.  Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement.  It is not the same as muscle weakness, although the two conditions can co-exist.  Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract.  Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles.  The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders.  For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.  Sometimes it may not be possible to find what causes the hypotonia.  Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control.  Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes.  Hypotonia does not affect intellect.  The opposite of hypotonia is hypertonia.

MalaCards based summary: Hypotonia is related to microcephaly and hypermobile ehlers-danlos syndrome. An important gene associated with Hypotonia is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways is Reelin signaling pathway. The drugs Rocuronium and Neostigmine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and skeletal muscle, and related phenotypes are behavior/neurological and mortality/aging

Wikipedia: 75 Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle),... more...

Related Diseases for Hypotonia

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

(show top 50) (show all 1817)
# Related Disease Score Top Affiliating Genes
1 microcephaly 30.5 VPS13B KARS1 GRIN2B GNB1 EXOSC3 ATP2B3
2 hypermobile ehlers-danlos syndrome 30.2 GRIN2B FKBP14
3 hypotonia-cystinuria syndrome 11.5
4 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.5
5 multiple congenital anomalies-hypotonia-seizures syndrome 3 11.5
6 multiple congenital anomalies-hypotonia-seizures syndrome 11.5
7 multiple congenital anomalies-hypotonia-seizures syndrome 1 11.4
8 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.4
9 mitochondrial dna depletion syndrome 7 11.4
10 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 11.4
11 hypotonia, ataxia, and delayed development syndrome 11.4
12 cohen syndrome 11.3
13 neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties 11.3
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.3
15 neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy 11.3
16 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.3
17 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.3
18 mitochondrial phosphate carrier deficiency 11.3
19 opitz-kaveggia syndrome 11.3
20 combined oxidative phosphorylation deficiency 31 11.3
21 hypotonia, infantile, with psychomotor retardation 11.3
22 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 11.3
23 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.3
24 spastic tetraplegia and axial hypotonia, progressive 11.3
25 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 11.3
26 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.3
27 combined oxidative phosphorylation deficiency 18 11.3
28 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.3
29 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 11.3
30 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 11.3
31 myopathy, mitochondrial progressive, with congenital cataract and developmental delay 11.3
32 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 11.3
33 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.3
34 allan-herndon-dudley syndrome 11.3
35 pura-related neurodevelopmental disorders 11.3
36 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 11.3
37 ataxia, intention tremor, and hypotonia syndrome, childhood-onset 11.3
38 combined oxidative phosphorylation deficiency 5 11.3
39 intellectual developmental disorder with hypotonia and behavioral abnormalities 11.3
40 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.3
41 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 11.3
42 neurodevelopmental disorder with hypotonia and dysmorphic facies 11.3
43 neurodevelopmental disorder with hypotonia and gross motor and speech delay 11.3
44 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 11.3
45 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 11.3
46 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.3
47 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 11.3
48 hypotonia-speech impairment-severe cognitive delay syndrome 11.3
49 neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language 11.3
50 radioulnar synostosis-developmental delay-hypotonia syndrome 11.3

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to Hypotonia

Symptoms & Phenotypes for Hypotonia

MGI Mouse Phenotypes related to Hypotonia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AIMP1 ANKLE2 ATP2B3 CLCN6 DOCK3 GNB1
2 mortality/aging MP:0010768 9.44 AIMP1 ANKLE2 COQ4 EBF3 EXOSC3 GNB1

Drugs & Therapeutics for Hypotonia

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

(show top 50) (show all 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456 5824
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
5
Atropine Approved, Vet_approved Phase 4 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
6
Succinylcholine Approved Phase 4 306-40-1, 71-27-2 5314
7
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
8
Orphenadrine Approved Phase 4 83-98-7 4601
9 Platelet Aggregation Inhibitors Phase 4
10 Anesthetics, Inhalation Phase 4
11 Anesthetics Phase 4
12 Neurotransmitter Agents Phase 4
13 Cholinesterase Inhibitors Phase 4
14 Cholinergic Agents Phase 4
15 Anti-Arrhythmia Agents Phase 4
16 Cholinergic Antagonists Phase 4
17 Analgesics Phase 4
18 Parasympatholytics Phase 4
19 Analgesics, Opioid Phase 4
20 Narcotics Phase 4
21 Antipyretics Phase 4
22 Acetaminophen, hydrocodone drug combination Phase 4
23 Antiparkinson Agents Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Cytochrome P-450 Enzyme Inhibitors Phase 4
26 Muscarinic Antagonists Phase 4
27 Bronchodilator Agents Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Respiratory System Agents Phase 4
30 Mydriatics Phase 4
31
Remifentanil Approved Phase 3 132875-61-7 60815
32
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 3 14838-15-4, 492-39-7 131954576 4786 26934
33
Guaifenesin Approved, Investigational, Vet_approved Phase 3 93-14-1 3516
34 Neuromuscular Nondepolarizing Agents Phase 3
35 Neuromuscular Blocking Agents Phase 3
36 Chlorpheniramine, phenylpropanolamine drug combination Phase 3
37
Sulfamethoxazole Approved Phase 2 723-46-6 5329
38 Anti-Infective Agents Phase 2
39
Tramadol Approved, Investigational 27203-92-5 33741 5523
40
Ketorolac Approved 74103-06-3, 66635-83-4 3826
41
Gabapentin Approved, Investigational 60142-96-3 3446
42
Tizanidine Approved, Investigational 51322-75-9 5487
43
Sevoflurane Approved, Vet_approved 28523-86-6 5206
44
Glycopyrronium Approved, Investigational, Vet_approved 596-51-0, 740028-90-4 3494
45
Racephedrine Approved, Experimental Early Phase 1 299-42-3, 90-82-4, 90-81-3 5032 9294 7028
46
Isoflurane Approved, Vet_approved Early Phase 1 26675-46-7 3763
47
Lidocaine Approved, Vet_approved 137-58-6 3676
48
Atracurium Approved, Experimental, Investigational 64228-79-1 47319
49
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
50
Tannic acid Approved 1401-55-4 16129878 16129778

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant; Impact on Postoperative Sore Throat and Haemodynamics Unknown status NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
2 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
3 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
4 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Arthroplasty (TKA). Prospective, Randomized, Open-label Trial to Determine if Switching From Oral to Intravenous Acetaminophen and Orphenadrine for 48 Hours After TKA Improves Outcomes. Completed NCT02449369 Phase 4 Preop acetaminophen IV;Preop orphenadrine IV;Postop oral oxycodone & acetaminophen;Postop hydromorphone IV;Postop oral orphenadrine;Postop oral oxycodone;Postop acetaminophen IV;Postop orphenadrine IV
5 The Effect of 0.6 vs. 1.2 Milligram Atropine Together With Neostigmine 2.5 Milligram on Heart Rate in Patient Receiving Muscle Relaxant During General Anesthesia Completed NCT02186132 Phase 4 Atropine 0.6 mg;Atropine 1.2 mg
6 Phase 4 Study of Optimal Relaxation With Rocuronium Infusion Followed by Rapid Reliable Reversal With Sugammadex: A Comparison With Conventional Practice Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
7 Assessment of Remifentanil for Rapid Sequence Induction and Intubation in Full Stomach Patient Compared to Muscle Relaxant. A Non-inferiority Simple Blind Randomized Controlled Trial Completed NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
8 Requirement of Skeletal Muscle Paralysis in Hypothermic Patients After Cardiac Arrest - a Pilot Study Completed NCT01719770 Phase 3 rocuronium
9 Withdrawal of Tiratricol Treatment in Males With Monocarboxylate Transporter 8 Deficiency (MCT8 Deficiency): A Double-blind, Randomized, Placebo-controlled Study Not yet recruiting NCT05579327 Phase 3 Tiratricol;Placebo
10 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
11 The Effectiveness of Neostigmine on the Recovery of Rocuronium-Induced Neuromuscular Blockade: A Comparison Between Partial Dose and TOF Ratio-Based Adjustment Dose Completed NCT03058263 Phase 1, Phase 2 Dose of Neostigmine
12 Target-Controlled Infusion of Remifentanil Without Muscle Relaxant Allows Acceptable Surgical Conditions During Thoracotomy Completed NCT02030808 Phase 2 Muscle Relaxants (MR) group;Non- Muscle Relaxants (NMR) group
13 Comparison of Intubating Condition of the Mcgrath Videolaryngoscope With and Without Muscle Relaxant Completed NCT02575716 Phase 1
14 PREPL in Health and Disease Unknown status NCT02263781
15 Causes of Peripheral Hypotonia in Children Attending Assiut University Children Hospital Unknown status NCT03857555
16 Addition of Muscle Relaxants in a Multimodal Analgesic Regimen for Analgesia After Primary Total Knee Arthroplasty Unknown status NCT04574791 TiZANidine 2 MG Oral Capsule
17 Epidemiologic Study on Short and Long-Term Effects of Anesthesia With Muscle Relaxants (Epidemiologische Untersuchung Kurz- Und längerfristiger Auswirkungen Der Anästhesie Mit Muskelrelaxanzien) Unknown status NCT00753389
18 Effectiveness of Sugammadex on Muscle Relaxant Reversal in Preterm Neonates Unknown status NCT04566796 Sugammadex;Neostigmine
19 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
20 Pilot Study of Novel Nasopharyngeal Airway Device for Treating Upper Airway Obstruction in Pediatric Hypotonia Completed NCT04846400
21 Development of a Measuring Instrument for the Evaluation of Hypotonia in Children With Down Syndrome Completed NCT05131542
22 An Evaluation of the Clinical Efficacy of Massage Therapy in a Multisensory Environment for Residents With Severe and Profound Intellectual Disabilities Completed NCT02120820
23 Effects of Vestibular Stimulation and Neurodevelopmental Technique on Hypotonic Cerebral Palsy While Controlling the Gender Completed NCT04894799
24 Effect of Optimal Trunk Support on Academic Engagement of Children With Moderate to Severe Disability Completed NCT05391594
25 Effect of Perioperative Muscle Relaxant Model on Postoperative Outcomes in Chinese Patients Completed NCT04371588
26 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
27 Assessment of Dentist Pharmacist Communication About Usage of Skeletal Muscle Relaxants Survey Among Egyptian Dental Practitioners Completed NCT04747743
28 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium
29 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
30 POPULAR: POst-operative PULmonary Complications After Use of Muscle Relaxants in Europe - A European Prospective Multicenter Observational Study Completed NCT01865513
31 Efficacy of Intravenous Glyco-P® in Patients Undergoing Procedure That Require Anesthesia Service Completed NCT02102542
32 Evaluation of the Effectiveness and Safety of Endotracheal Intubation for Inhalational Anesthesia Without the Use of Muscle Relaxants or Analgesics Completed NCT03112564 Sevoflurane 8% + Intravenous fentanyl
33 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
34 A Prospective, Randomized, Multicenter, Self-controlled, Blinded Trial on the Efficacy and Safety of Poly-L-lactic Acid - SCULPTRA - for the Treatment of Corporal Skin Flaccidity. Completed NCT03225066
35 Using Fentanyl and Propofol for Tracheal Intubation During Sevoflurane Induction Without Muscle Relaxants in Children: a Randomized Prospective Study Completed NCT02442128 propofol /Fentanyl;Fentanyl / propofol
36 Effect of Atracurium and Rocuronium on the State and Response Entropy During Isoflurane Anesthesia Completed NCT05097508 Early Phase 1 Atracurium Besylate;Rocuronium Bromide
37 Comparison of the Clinical Performances of Flexible Laryngeal Mask Airway in Pediatric Patients Under General Anesthesia With or Without Muscle Relaxant: a Randomized Controlled Non-inferiority Trial Completed NCT03487003 rocuronium;saline
38 Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia Recruiting NCT05527652
39 Comparison of Osteopathic Treatment Versus Simulation on Motor Development of Hypotonic Infants. Recruiting NCT03852004
40 A Natural History Study of hnRNP and Other Gene-related Disorders Recruiting NCT03492060
41 Respiratory Benefits of Small Doses Muscle Relaxant in General Anesthesia Recruiting NCT04344262 Atracurium Besylate regular dose;Atracurium Besylate minial dose
42 The Impact of Using Muscle Relaxants and Laryngeal Local Anesthetics for Laryngeal Mask Airway (LMA) Insertion on Hemodynamics and Induction Anesthetics Dosage in Elderly Recruiting NCT05310110 10% lidocaine spray;Placebo of lidocaine spray;Cisatracurium;Placebo of cisatracurium;Propofol
43 Which is More Comfortable in Parotidectomy With Neuromonitoring: Using a Muscle Relaxants and Getting It Back? Not to Use it at All? Single-Blind, Prospective, Randomized Study Recruiting NCT05432570
44 Neonatal Hypotonia Associated With in Utero Exposure to Antidepressant-Analysis of Two Pharmacovigilance Databases Active, not recruiting NCT04830241 Antidepressant
45 North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 Active, not recruiting NCT03548779
46 Quantification of the Postural Muscles Mechanical Properties of Individuals With Spinal Muscular Atrophy Using Myotonometer: Intra- and Inter Examiner Reliability Enrolling by invitation NCT05521217
47 Effect of Timing of Commencement of Bispectral Index Monitoring in Relation to Muscle Relaxant Administration Enrolling by invitation NCT05440058
48 Hypotonia as a Clinical Predictor of Optic Pathway Glioma in Children With Neurofibromatosis Type 1 Terminated NCT02584413 Gadolinium contrast
49 Difference of Muscle Power and Myokine Profile After Upper Limb or Lower Limb Electric Muscle Stimulation in Patients With Severe Sepsis and Acute Respiratory Failure Terminated NCT01895647
50 The Dose-response Relationship of Rocuronium in Patients Taking Pyridostigmine Preoperatively Compared With Age and Sex Matched Controls Withdrawn NCT02157545

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Genetic tests related to Hypotonia:

# Genetic test Affiliating Genes
1 Hypotonia 28

Anatomical Context for Hypotonia

Organs/tissues related to Hypotonia:

MalaCards : Spinal Cord, Brain, Skeletal Muscle, Heart, Skin, Globus Pallidus, Eye

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 9189)
# Title Authors PMID Year
1
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 62 5
28017372 2017
2
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 62 5
27108799 2016
3
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. 5
33734437 2021
4
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. 5
34909687 2021
5
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay. 62
36299998 2023
6
Ventricular septal defect and aortic hypoplasia in congenital cytomegalovirus infection: occasional finding or underdetected correlation? 62
33910458 2022
7
Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity. 62
36356440 2022
8
ADCY5 gene mutation: a case report. 62
36112278 2022
9
Marked hypotonia: An additional feature of ANO3-related movement disorder. 62
36228993 2022
10
GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay. 62
36121006 2022
11
Introduction of blended diet for enteral tube feeding in paediatrics: A case report. 62
34747244 2022
12
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing. 62
34846692 2022
13
Mystery solved after 23 years: M syndrome is PIGT-associated multiple congenital anomalies-hypotonia-seizures syndrome 3. 62
36177944 2022
14
AAV2-hAADC (Eladocagene Exuparvovec) Biodistribution and Expression: Superiority of Intraputaminal versus Intracerebroventricular and Intrathecal (Lumbar) Routes of Administration. 62
36472076 2022
15
Targeting impaired autophagy as a therapeutic strategy for Koolen-de Vries syndrome. 62
35468045 2022
16
A nationwide survey of Schaaf-Yang syndrome in Japan. 62
36220858 2022
17
Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis. 62
36194207 2022
18
Combination of atomoxetine with the novel antimuscarinic aroxybutynin improves mild to moderate OSA. 62
35975547 2022
19
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. 62
36368327 2022
20
Home continuous positive airway pressure therapy in infants: a single center experience. 62
36458731 2022
21
Characteristics of pediatric open globe injuries in preschool-aged and school-aged children. 62
36368410 2022
22
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients. 62
36369750 2022
23
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. 62
36399134 2022
24
[Ocular hypotonia as first manifestation of giant cell arteritis]. 62
36409353 2022
25
Recent Update in Food Protein-Induced Enterocolitis Syndrome: Pathophysiology, Diagnosis, and Management. 62
36426394 2022
26
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A. 62
36333862 2022
27
Gastric aspiration in sudden unexpected infant death of Prader-Willi syndrome: immunohistochemical detection of feeding components. 62
36018383 2022
28
Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings. 62
36190479 2022
29
Down syndrome: orofacial pain, masticatory muscle hypotonia, and sleep disorders. 62
35907210 2022
30
Postoperative hypotonia in a patient with stiff person syndrome: a case report and literature review. 62
35986141 2022
31
Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion. 62
36064004 2022
32
A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia. 62
36447830 2022
33
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. 62
36322149 2022
34
A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder. 62
36436328 2022
35
5p13 microduplication in a malformed fetus and his unaffected father. 62
36322476 2022
36
Evaluation of the Muscle Strength of the Tongue with the Tongue Digital Spoon (TDS) in Patients with Obstructive Sleep Apnea. 62
36362996 2022
37
Rare multiple congenital anomalies-hypotonia-seizures syndrome type 1 (MCAHS1) - the clinical and molecular summary. 62
36384198 2022
38
Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review. 62
36360281 2022
39
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. 62
36322148 2022
40
[Analysis of clinical features and EBF3 gene variant in a child with hypotonia, ataxia and developmental delay]. 62
36317217 2022
41
Koolen-de Vries syndrome: A de novo missense KANSL1 variant. 62
36150256 2022
42
Classical Ehlers-Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2. 62
36447672 2022
43
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome. 62
35804254 2022
44
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. 62
36371792 2022
45
A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report. 62
36439385 2022
46
A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings. 62
35945102 2022
47
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review. 62
36116096 2022
48
Lacrimal drainage anomalies in 3p deletion syndrome. 62
36374187 2022
49
A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1. 62
36345169 2022
50
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13. 62
36411461 2022

Variations for Hypotonia

ClinVar genetic disease variations for Hypotonia:

5 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 27 genes NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del DEL Pathogenic
180224 GRCh37: 6:112511751-118037596
GRCh38:
2 EBF3 NM_001375380.1(EBF3):c.1128+1G>T SNV Pathogenic
212723 rs797046136 GRCh37: 10:131646655-131646655
GRCh38: 10:129848391-129848391
3 overlap with 81 genes GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) CN LOSS Pathogenic
523269 GRCh37: 1:834101-6076140
GRCh38:
4 MKS1 NM_017777.4(MKS1):c.1166-2A>C SNV Pathogenic
523519 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
5 AIMP1 NM_001142416.2(AIMP1):c.82C>T (p.Gln28Ter) SNV Pathogenic
1172642 GRCh37: 4:107246248-107246248
GRCh38: 4:106325091-106325091
6 MAP1B NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) SNV Pathogenic
638688 rs1580027036 GRCh37: 5:71494550-71494550
GRCh38: 5:72198723-72198723
7 MKS1 NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) SNV Pathogenic
1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
8 KARS1 NM_005548.3(KARS1):c.1354del (p.Leu452fs) DEL Pathogenic
560389 rs1567498374 GRCh37: 16:75664391-75664391
GRCh38: 16:75630493-75630493
9 CLCN6 NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys) SNV Pathogenic
974617 rs1644918844 GRCh37: 1:11894424-11894424
GRCh38: 1:11834367-11834367
10 overlap with 7 genes GRCh38/hg38 20p13(chr20:453176-822262)x1 CN LOSS Pathogenic
1705027 GRCh37:
GRCh38: 20:453176-822262
11 overlap with 22 genes GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 CN LOSS Pathogenic
1705939 GRCh37: 15:22770421-25648680
GRCh38:
12 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) SNV Pathogenic
Likely Pathogenic
224715 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
13 GNB1 NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) SNV Pathogenic
Likely Pathogenic
224718 rs869312826 GRCh37: 1:1718817-1718817
GRCh38: 1:1787378-1787378
14 GNB1 NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) SNV Pathogenic
Likely Pathogenic
224711 rs869312821 GRCh37: 1:1737954-1737954
GRCh38: 1:1806515-1806515
15 AHDC1 NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) MICROSAT Pathogenic
133326 rs587779766 GRCh37: 1:27876253-27876254
GRCh38: 1:27549742-27549743
16 AHDC1 NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) DEL Pathogenic
133327 rs587779767 GRCh37: 1:27875729-27875729
GRCh38: 1:27549218-27549218
17 AHDC1 NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) DEL Pathogenic
133328 rs587779768 GRCh37: 1:27876080-27876080
GRCh38: 1:27549569-27549569
18 EBF3 NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu) SNV Pathogenic
268155 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
19 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) SNV Pathogenic
242884 rs1114167292 GRCh37: 3:197431557-197431557
GRCh38: 3:197704686-197704686
20 ATP2B3 NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) SNV Pathogenic
242886 rs782596945 GRCh37: X:152845687-152845687
GRCh38: X:153580229-153580229
21 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) SNV Pathogenic
242883 rs767982852 GRCh37: 3:197421288-197421288
GRCh38: 3:197694417-197694417
22 VPS13B NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) SNV Pathogenic
56645 rs386834070 GRCh37: 8:100146872-100146872
GRCh38: 8:99134644-99134644
23 GRIN2B NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs) DEL Pathogenic
916029 rs1949426932 GRCh37: 12:13768481-13768488
GRCh38: 12:13615547-13615554
24 SP9 NM_001145250.2(SP9):c.1216del (p.His406fs) DEL Pathogenic
1297468 GRCh37: 2:175202028-175202028
GRCh38: 2:174337300-174337300
25 YWHAG NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys) SNV Pathogenic
659092 rs1583981736 GRCh37: 7:75959469-75959469
GRCh38: 7:76330152-76330152
26 ARF3 NM_001659.3(ARF3):c.277G>A (p.Asp93Asn) SNV Pathogenic
1697212 GRCh37: 12:49333545-49333545
GRCh38: 12:48939762-48939762
27 GNB1 NM_002074.5(GNB1):c.301A>G (p.Met101Val) SNV Pathogenic
Likely Pathogenic
224717 rs869312825 GRCh37: 1:1735987-1735987
GRCh38: 1:1804548-1804548
28 EBF3 NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln) SNV Pathogenic
268156 rs1057519389 GRCh37: 10:131755588-131755588
GRCh38: 10:129957324-129957324
29 ANKLE2 NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) SNV Pathogenic
930179 rs1380982250 GRCh37: 12:133310992-133310992
GRCh38: 12:132734406-132734406
30 ARF3 NM_001659.3(ARF3):c.379A>G (p.Lys127Glu) SNV Pathogenic
1697213 GRCh37: 12:49333443-49333443
GRCh38: 12:48939660-48939660
31 USP7 NM_003470.3(USP7):c.2596C>T (p.Gln866Ter) SNV Pathogenic
1172595 GRCh37: 16:8992432-8992432
GRCh38: 16:8898575-8898575
32 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic
Pathogenic
Likely Pathogenic
224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
33 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) SNV Pathogenic
Likely Pathogenic
224714 rs869312823 GRCh37: 1:1737948-1737948
GRCh38: 1:1806509-1806509
34 overlap with 824 genes GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) CN GAIN Pathogenic
1703579 GRCh37: X:1-155270560
GRCh38:
35 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic
Likely Pathogenic
208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
36 COQ4 NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) SNV Pathogenic
915836 rs143441644 GRCh37: 9:131095844-131095844
GRCh38: 9:128333565-128333565
37 FKBP14 NM_017946.4(FKBP14):c.362dup (p.Glu122fs) DUP Pathogenic
279809 rs542489955 GRCh37: 7:30058726-30058727
GRCh38: 7:30019110-30019111
38 EXOSC3 NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) SNV Pathogenic
31688 rs141138948 GRCh37: 9:37783990-37783990
GRCh38: 9:37783993-37783993
39 RPS6KA3 NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter) SNV Pathogenic
523475 rs1555928716 GRCh37: X:20185787-20185787
GRCh38: X:20167669-20167669
40 DOCK3 NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036fs) DEL Pathogenic
599268 rs1560414254 GRCh37: 3:51349917-51349920
GRCh38: 3:51312486-51312489
41 DOCK3 NM_004947.5(DOCK3):c.1038-2A>G SNV Pathogenic
599269 rs1560212751 GRCh37: 3:51246203-51246203
GRCh38: 3:51208772-51208772
42 GNB1 NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) SNV Pathogenic
Likely Pathogenic
224713 rs758432471 GRCh37: 1:1737952-1737952
GRCh38: 1:1806513-1806513
43 ALG13 NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) SNV Likely Pathogenic
66086 rs398122394 GRCh37: X:110928268-110928268
GRCh38: X:111685040-111685040
44 ATP6V0A1 NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) SNV Likely Pathogenic
560227 rs1567871600 GRCh37: 17:40665967-40665967
GRCh38: 17:42513949-42513949
45 DMBX1 NM_172225.2(DMBX1):c.352C>T (p.Arg118Trp) SNV Likely Pathogenic
183286 rs730882203 GRCh37: 1:46976625-46976625
GRCh38: 1:46510953-46510953
46 CIZ1, DNM1 NM_004408.4(DNM1):c.139G>A (p.Val47Met) SNV Likely Pathogenic
224142 rs869312702 GRCh37: 9:130965888-130965888
GRCh38: 9:128203609-128203609
47 LIPT1, MITD1 NM_145199.3(LIPT1):c.369del (p.Lys123fs) DEL Likely Pathogenic
420362 rs552120721 GRCh37: 2:99778789-99778789
GRCh38: 2:99162326-99162326
48 TBCK NM_001163435.3(TBCK):c.1897+1G>A SNV Likely Pathogenic
183338 rs374319146 GRCh37: 4:107115874-107115874
GRCh38: 4:106194717-106194717
49 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) SNV Likely Pathogenic
224712 rs869312822 GRCh37: 1:1737953-1737953
GRCh38: 1:1806514-1806514
50 RYR1 NM_000540.3(RYR1):c.4160+1G>A SNV Likely Pathogenic
427768 rs113460156 GRCh37: 19:38964412-38964412
GRCh38: 19:38473772-38473772

Copy number variations for Hypotonia from CNVD:

6 (show all 11)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 101485 16 3862993 3941884 Deletion Hypotonia
2 112786 17 41062469 41719833 Deletion Hypotonia
3 145629 2 41600000 47600000 Deletion CAMKMT Hypotonia
4 145630 2 41600000 47600000 Deletion PPM1B Hypotonia
5 145631 2 41600000 47600000 Deletion PREPL Hypotonia
6 145633 2 41600000 47600000 Deletion SLC3A1 Hypotonia
7 204535 6 111807663 121697293 Deletion Hypotonia
8 247215 9 129375646 129461836 Deletion NIBAN2 Hypotonia
9 247220 9 129375646 129461836 Deletion STXBP1 Hypotonia
10 260226 X 146900000 154913754 Duplication MECP2 Hypotonia
11 43873 10 50265332 50721613 Duplication Hypotonia

Expression for Hypotonia

Search GEO for disease gene expression data for Hypotonia.

Pathways for Hypotonia

Pathways related to Hypotonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.07 MAP1B GRIN2B

GO Terms for Hypotonia

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

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.92 KARS1 AIMP1

Sources for Hypotonia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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