MCID: HYP265
MIFTS: 43

Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 55 6

Classifications:



Summaries for Hypotonia

NINDS : 55 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 infantile hypotonia and multiple congenital anomalies-hypotonia-seizures syndrome. An important gene associated with Hypotonia is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways are SMAD Signaling Network and Post-translational modification- synthesis of GPI-anchored proteins. The drugs Fentanyl and Propofol have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Wikipedia : 77 Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension... more...

Related Diseases for Hypotonia

Diseases in the Hypotonia family:

Infantile Hypotonia

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

(show top 50) (show all 854)
# Related Disease Score Top Affiliating Genes
1 infantile hypotonia 33.7 CCDC174 NALCN UNC80
2 multiple congenital anomalies-hypotonia-seizures syndrome 33.7 PIGA PIGN
3 hypotonia-speech impairment-severe cognitive delay syndrome 33.7 NALCN UNC80
4 hypotonia, infantile, with psychomotor retardation 33.4 CCDC174 NALCN TBCK UNC80
5 alacrima, achalasia, and mental retardation syndrome 31.5 AHDC1 EBF3 GNB1 PURA
6 cerebral palsy, ataxic, autosomal recessive 30.5 CTBP1 UBE3A
7 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.4
8 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.4
9 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.4
10 hypotonia-cystinuria syndrome 12.4
11 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.3
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.2
13 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.2
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.2
15 hypotonia, ataxia, and delayed development syndrome 12.2
16 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.2
17 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 12.2
18 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.2
19 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 12.2
20 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.2
21 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.1
22 puerto rican infant hypotonia syndrome 12.1
23 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.0
24 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.0
25 hypotonia, seizures, and precocious puberty 12.0
26 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.0
27 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.0
28 cohen syndrome 11.9
29 coarse face hypotonia constipation 11.9
30 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.9
31 mental retardation macrocephaly coarse facies hypotonia 11.9
32 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.9
33 short stature contractures hypotonia 11.9
34 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.9
35 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.9
36 opitz-kaveggia syndrome 11.8
37 qazi markouizos syndrome 11.7
38 mitochondrial dna depletion syndrome 7 11.7
39 5q31.3 microdeletion syndrome 11.7
40 carey-fineman-ziter syndrome 11.6
41 birk-barel syndrome 11.6
42 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.5
43 allan-herndon-dudley syndrome 11.5
44 mental retardation, autosomal dominant 31 11.5
45 lubs x-linked mental retardation syndrome 11.5
46 kcnk9 imprinting syndrome 11.5
47 grubben de cock borghgraef syndrome 11.5
48 combined oxidative phosphorylation deficiency 18 11.4
49 combined oxidative phosphorylation deficiency 31 11.4
50 pura syndrome 11.4

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to Hypotonia

Symptoms & Phenotypes for Hypotonia

Drugs & Therapeutics for Hypotonia

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

(show top 50) (show all 565)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 437-38-7 3345
2
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2078-54-8 4943
3
Rocuronium Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 119302-91-9, 143558-00-3 441290
4
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 28523-86-6 5206
5
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-99-4 4456
6
Cisatracurium Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 96946-41-7
7
Succinylcholine Approved Phase 4,Phase 2,Phase 3,Not Applicable 306-40-1 5314
8
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 51-55-8, 5908-99-6 174174
9
tannic acid Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 1401-55-4
10
Benzocaine Approved, Investigational Phase 4,Phase 3,Not Applicable,Early Phase 1 94-09-7, 1994-09-7 2337
11
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 303-53-7 2895
12
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
13
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
14
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 6740-88-1 3821
15
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 2180-92-9, 38396-39-3 2474
16
Hydromorphone Approved, Illicit Phase 4,Early Phase 1,Not Applicable 466-99-9 5284570
17
Ketorolac Approved Phase 4,Phase 2,Phase 3,Early Phase 1 66635-83-4, 74103-06-3 3826
18
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
19
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
20
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 76-42-6 5284603
21
Hydrocodone Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 125-29-1 5284569
22
Methadone Approved Phase 4,Phase 1 76-99-3 4095
23
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 57-27-2 5288826
24
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
25
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 83-98-7 4601
26
Gabapentin Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable 60142-96-3 3446
27
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 93-14-1 3516
28
Droperidol Approved, Vet_approved Phase 4,Phase 3 548-73-2 3168
29
Biperiden Approved, Investigational Phase 4,Phase 3 514-65-8 2381
30
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59467-70-8 4192
31
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 439-14-5 3016
32
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 62-31-7, 51-61-6 681
33
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 846-49-1 3958
34
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 88495-63-0 5464098 6917864
35
Quinine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 130-95-0 8549 3034034
36
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 119380 68911
37
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
38
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 7487-88-9 24083
39
Atracurium Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 64228-79-1 47319
40
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1134-47-0 2284
41
Sufentanil Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 56030-54-7 41693
42
Remifentanil Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 132875-61-7 60815
43
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-17-5 702
44
Ketoprofen Approved, Vet_approved Phase 4,Phase 3 22071-15-4 3825
45
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 15307-86-5 3033
46
Sodium Citrate Approved, Investigational Phase 4,Phase 1,Early Phase 1,Not Applicable 68-04-2
47
Caffeine Approved Phase 4,Phase 3,Phase 1,Not Applicable 58-08-2 2519
48
Valproic Acid Approved, Investigational Phase 4,Phase 3,Not Applicable 99-66-1 3121
49
Naproxen Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 22204-53-1 156391 1302
50
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Not Applicable,Early Phase 1 113775-47-6 68602 5311068

Interventional clinical trials:

(show top 50) (show all 495)
# Name Status NCT ID Phase Drugs
1 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on Anesthesia in Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
2 Incidence and Severity of Residual Neuromuscular Blockade Unknown status NCT02660398 Phase 4
3 Effectiveness of Sugammadex in LMS Surgery Unknown status NCT02329964 Phase 4 Sugammadex;Neostigmine
4 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4 profound neuromuscular blockade
5 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
6 Acceleromyographic Assessment of Neuromuscular Blockade: TOF-Watch-SX Versus TOFscan Unknown status NCT02433769 Phase 4
7 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
8 Botulinum Toxin A for Treatment of Catocholamine Induced Finger Necrosis Unknown status NCT01500668 Phase 4 Botox;Placebo
9 Street Fitness in Surgical Patients Undergoing General Anesthesia After Reversal of Neuromuscular Blockade Unknown status NCT01453530 Phase 4 Sugammadex;Neostigmine/Glycopyrrolate
10 Effect of Subanesthetic Dose of Ketamine Combined With Propofol on Cognitive Function in Depressive Patients Undergoing Electroconvulsive Therapy Unknown status NCT02305394 Phase 4 ketamine and propofol;propofol and normal saline
11 Standard of Care Versus Urine Testing With Selective PHarmacogenomics for Effective Drug and Dosing REgimens Unknown status NCT02625155 Phase 4
12 Multimodal Narcotic Limited Perioperative Pain Control With Colorectal Surgery Unknown status NCT02958566 Phase 4 Acetaminophen;Gabapentin;Orphenadrine;Lidocaine;Marcaine;Ketamine;Methadone;Tramadol;Ketorolac;Morphine Sulfate;Fentanyl;Dilaudid;Hydrocodone-Acetaminophen Tab 5-325 MG;Morphine Sulfate;Fentanyl;Dilaudid;HYDROCODONE/ACETAMINOPHEN 5 Mg-325 Mg ORAL TABLET
13 Optimization of Procedural Sedation Protocol Used for Dental Care Delivery in People With Mental Disability Unknown status NCT02078336 Phase 4 Midazolam Mylan;Lorazepam Mylan;Valium + Akineton + Dehydrobenzperidol + Atropine sulfate
14 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4 artesunate;Quinine
15 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4 Diazepam
16 Effectiveness of Oral Quinine and Artemether-Lumefantrine in the Treatment of Uncomplicated Malaria in Ugandan Children Unknown status NCT00540202 Phase 4 artemether-lumefantrine;Oral quinine
17 0.6 vs. 1.2 mg Atropine Together With Neostigmine 2.5 mg on Heart Rate in Patient Receiving Muscle Relaxant Completed NCT02186132 Phase 4 Atropine 0.6 mg;Atropine 1.2 mg
18 Fade Upon TOF Stimulation Induced by Succinylcholine Completed NCT02425449 Phase 4 Succinylcholine
19 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee 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
20 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
21 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Completed NCT01587274 Phase 4 Naproxen;Cyclobenzaprine;Oxycodone/ acetaminophen
22 Preoperative Dexmedetomidine & EC50 of Propofol Completed NCT02097407 Phase 4 Group C : Saline + propofol group;Group D : Dexmedetomidine + propofol group
23 Effects of Intravenous Lidocaine Associated With Magnesium Sulfate on the Cisatracurium-Induced Neuromuscular Block Completed NCT02483611 Phase 4 Magnesium Sulfate;Lidocaine;Isotonic Solution;Cisatracurium
24 Orphenadrine and Methocarbamol for LBP Completed NCT02665286 Phase 4 Orphenadrine;Methocarbamol;Naproxen;Placebo
25 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Completed NCT01941628 Phase 4 Rocuronium;Succinylcholine
26 Ibuprofen Plus Metaxolone, Tizanidine, or Baclofen for Low Back Pain Completed NCT03068897 Phase 4 Metaxalone;Tizanidine;Baclofen;Ibuprofen 600 mg
27 Efficacy and Safety of Adding Atracurium to Percaruncular Block for High Myopes Undergoing Cataract Surgery Completed NCT03243500 Phase 4 Atracurium;Lidocaine 2%;Bupivacaine 0.5%;hyaluronidase powder
28 Impact of Anesthetic Choice (Sevoflurane Versus Desflurane) on Airway Reflex Recovery in the Context of Antagonized Neuromuscular Block Completed NCT01199237 Phase 4 Sevoflurane;Desflurane;Rocuronium;Neostigmine;Glycopyrrolate
29 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
30 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
31 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
32 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
33 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Completed NCT03112993 Phase 4 sugammadex;Neostigmine
34 Comparison of Total Intravenous Anesthesia vs. Inhalational Anesthesia in Acute Subdural Hematoma Patients Completed NCT03146104 Phase 4 Propofol;Isoflurane
35 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4 Remifentanyl - sufentanil placebo;Sufentanil - remifentanyl placebo
36 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4 Rocuronium
37 To Evaluate the Effect of Chlorhexidine-benzidamine Administration Completed NCT03253497 Phase 4 Chlorobenzene Liquid
38 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4 Rocuronium + sugammadex;Succinylcholine + Neostigmine
39 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
40 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4 Remifentanil;Desflurane
41 Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery Completed NCT02724111 Phase 4 sufficient dose of rocuronium;sugammadex 10 min after position change
42 Surgical Conditions During Laparoscopic Bariatric Surgery Completed NCT02703909 Phase 4 Rocuronium
43 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
44 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
45 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
46 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4 Parafon Forte
47 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
48 Efficacy And Safety Of Parecoxib 40mg vs. Ketoprofen 100mg In The Management Of Acute Renal Colic Completed NCT00553605 Phase 4 Ketoprofen 100mg;Parecoxib 40mg
49 Treatment Of Alcohol Withdrawal Syndrome: Dexmedetomidine Vs Diazepam In A Hospital O'horán Completed NCT03877120 Phase 4 Dexmedetomidine 0.004 MG/ML;Diazepam Injectable Solution
50 A Non-inferiority Trial on Pain Relief During Oocyte Retrieval Completed NCT02494180 Phase 4 fentanyl;pethidine;Diazepam;Midazolam

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

42
Brain, Spinal Cord, Skeletal Muscle, Testes, Breast, Liver, Bone

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 493)
# Title Authors Year
1
Significant hyperopic shift in a patient with extreme myopia following severe hypotonia caused by glaucoma filtering surgery. ( 30175614 )
2019
2
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency. ( 30440076 )
2019
3
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. ( 30607023 )
2019
4
Remifentanil based anesthetic management for orchiopexy operation in pediatric patient with congenital hypotonia. ( 30633316 )
2019
5
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. ( 30819258 )
2019
6
Mild hypotonia and recurrent seizures in an 8-month-old boy: Questions. ( 30903373 )
2019
7
Mild hypotonia and recurrent seizures in an 8-month-old boy: Answers. ( 30903374 )
2019
8
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. ( 30909959 )
2019
9
First cardiac manifestation of hypotonia-cystinuria syndrome. ( 29627929 )
2018
10
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. ( 29935962 )
2018
11
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. ( 29130599 )
2018
12
Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling. ( 29936637 )
2018
13
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. ( 29130632 )
2018
14
Evidence-Based Clinical Algorithm for Hypotonia Assessment: To Pardon the Errs. ( 29853815 )
2018
15
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )
2018
16
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. ( 29440549 )
2018
17
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105 )
2018
18
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
19
Effects of Activation of Preferred Stimulus on Tummy Time Behavior of an Infant with Down Syndrome and Associated Hypotonia. ( 29868339 )
2018
20
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing. ( 29974678 )
2018
21
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. ( 28960836 )
2018
22
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 29845577 )
2018
23
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
24
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. ( 29572195 )
2018
25
The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy. ( 29750627 )
2018
26
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. ( 29619238 )
2018
27
2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia. ( 29728193 )
2018
28
Interventions to improve sensory and motor outcomes for young children with central hypotonia: A systematic review. ( 29630564 )
2018
29
Case 3: Acute Hypotonia, Hypothermia, and Altered Mental Status in a 10-month-old Girl. ( 29858295 )
2018
30
Homozygous <i>PIGT</i> Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. ( 29868109 )
2018
31
Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 30145696 )
2018
32
Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations. ( 30121674 )
2018
33
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. ( 30012219 )
2018
34
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. ( 30061063 )
2018
35
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. ( 30103036 )
2018
36
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. ( 30105119 )
2018
37
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. ( 30124836 )
2018
38
Neonatal hypotonia: is it a diagnostic challenge? ( 30289151 )
2018
39
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. ( 30501482 )
2018
40
Hypotonia at Birth: A Case Study of ACTA-1 Mutation, a Congenital Myopathy. ( 30567918 )
2018
41
AGREE-II Appraisal of a clinical algorithm for hypotonia assessment. ( 30603013 )
2018
42
Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A. ( 30805538 )
2018
43
Frequency and Causes of Hypotonia in Neonatal Period with the Gestational Age of More Than 36 Weeks in NICU of Mofid Children Hospital, Tehran, Iran During 2012-2014. ( 28277555 )
2017
44
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607 )
2017
45
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
46
Acute Hypotonia in an Infant. ( 28174033 )
2017
47
Case 3: Hypotonia, Respiratory Distress, and Cardiomegaly in a 3-month-old Boy. ( 28364051 )
2017
48
Neonatal hypotonia. ( 28370866 )
2017
49
Gross Motor Outcomes After Dynamic Weight-Bearing in 2 Children With Trunk Hypotonia: A Case Series. ( 28953184 )
2017
50
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant. ( 28060111 )
2017

Variations for Hypotonia

ClinVar genetic disease variations for Hypotonia:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
2 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
3 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic/Likely pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
4 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic/Likely pathogenic rs869312826 GRCh38 Chromosome 1, 1787378: 1787378
5 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
6 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh38 Chromosome 1, 1804548: 1804548
7 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
8 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 GRCh38 Chromosome 1, 1804565: 1804565
9 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
10 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
11 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509
12 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh37 Chromosome 1, 1737948: 1737948
13 GNB1 NM_002074.4(GNB1): c.229G> A (p.Gly77Ser) single nucleotide variant Likely pathogenic rs758432471 GRCh37 Chromosome 1, 1737952: 1737952
14 GNB1 NM_002074.4(GNB1): c.229G> A (p.Gly77Ser) single nucleotide variant Likely pathogenic rs758432471 GRCh38 Chromosome 1, 1806513: 1806513
15 GNB1 NM_002074.4(GNB1): c.228T> G (p.Asp76Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869312822 GRCh37 Chromosome 1, 1737953: 1737953
16 GNB1 NM_002074.4(GNB1): c.228T> G (p.Asp76Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869312822 GRCh38 Chromosome 1, 1806514: 1806514
17 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs869312821 GRCh38 Chromosome 1, 1806515: 1806515
18 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs869312821 GRCh37 Chromosome 1, 1737954: 1737954

Copy number variations for Hypotonia from CNVD:

7 (show all 11)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 43873 10 50265332 50721613 Duplication Hypotonia
2 101485 16 3862993 3941884 Deletion Hypotonia
3 112786 17 41062469 41719833 Deletion Hypotonia
4 145629 2 41600000 47600000 Deletion C2orf34 Hypotonia
5 145630 2 41600000 47600000 Deletion PPM1B Hypotonia
6 145631 2 41600000 47600000 Deletion PREPL Hypotonia
7 145633 2 41600000 47600000 Deletion SLC3A1 Hypotonia
8 204535 6 111807663 121697293 Deletion Hypotonia
9 247215 9 129375646 129461836 Deletion FAM129B Hypotonia
10 247220 9 129375646 129461836 Deletion STXBP1 Hypotonia
11 260226 X 146900000 154913754 Duplication MECP2 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 11.52 CTBP1 HECW2 UBE3A
2
Show member pathways
11.13 PIGA PIGG PIGN
3 11.06 CTBP1 HECW2 UBE3A
4
Show member pathways
10.41 PIGA PIGG PIGN

GO Terms for Hypotonia

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

# Name GO ID Score Top Affiliating Genes
1 GPI anchor biosynthetic process GO:0006506 9.13 PIGA PIGG PIGN
2 preassembly of GPI anchor in ER membrane GO:0016254 8.8 PIGA PIGG PIGN

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

# Name GO ID Score Top Affiliating Genes
1 GTPase binding GO:0051020 8.96 GNB1 IARS
2 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGG PIGN

Sources for Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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