Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 54

Summaries for Hypotonia

NINDS : 54 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 hypotonia-speech impairment-severe cognitive delay syndrome and hypotonia, infantile, with psychomotor retardation. An important gene associated with Hypotonia is NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The drugs Naproxen and Quinine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Wikipedia : 76 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 814)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 33.5 NALCN UNC80
2 hypotonia, infantile, with psychomotor retardation 33.2 CCDC174 NALCN TBCK UNC80
3 multiple congenital anomalies-hypotonia-seizures syndrome 32.9 PIGA PIGN PIGT
4 infantile hypotonia 32.9 CCDC174 MECP2 NALCN UNC80
5 alacrima, achalasia, and mental retardation syndrome 30.4 AHDC1 EBF3 GNB1 MECP2 PURA
6 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.3
7 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.2
8 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.2
9 hypotonia-cystinuria syndrome 12.2
10 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.2
11 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.1
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.0
13 hypotonia, ataxia, and delayed development syndrome 12.0
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.0
15 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.0
16 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.0
17 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 12.0
18 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.0
19 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 11.9
20 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 11.9
21 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.9
22 hypotonia, seizures, and precocious puberty 11.9
23 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.8
24 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 11.8
25 cohen syndrome 11.7
26 short stature contractures hypotonia 11.7
27 mental retardation macrocephaly coarse facies hypotonia 11.7
28 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.7
29 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.7
30 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.7
31 coarse face hypotonia constipation 11.7
32 puerto rican infant hypotonia syndrome 11.7
33 opitz-kaveggia syndrome 11.6
34 mitochondrial dna depletion syndrome 7 11.5
35 qazi markouizos syndrome 11.5
36 5q31.3 microdeletion syndrome 11.5
37 carey-fineman-ziter syndrome 11.5
38 birk-barel mental retardation dysmorphism syndrome 11.4
39 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.4
40 mental retardation, autosomal dominant 31 11.4
41 allan-herndon-dudley syndrome 11.4
42 lubs x-linked mental retardation syndrome 11.3
43 kcnk9 imprinting syndrome 11.3
44 combined oxidative phosphorylation deficiency 18 11.2
45 pura syndrome 11.2
46 combined oxidative phosphorylation deficiency 31 11.2
47 diploid-triploid mosaicism 11.2
48 lujan syndrome 11.2
49 leigh syndrome 11.2
50 mental retardation, autosomal recessive 37 11.2

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 527)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Naproxen Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 22204-53-1 1302 156391
2
Quinine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 130-95-0 8549 3034034
3
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 439-14-5 3016
4
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
5
Remifentanil Approved Phase 4,Phase 3,Phase 2,Not Applicable 132875-61-7 60815
6
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Not Applicable 28523-86-6 5206
7
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
8
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
9
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
10
Hydrocodone Approved, Illicit Phase 4,Not Applicable 125-29-1 5284569
11
Atracurium Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 64228-79-1 47319
12
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
13
Succinylcholine Approved Phase 4,Phase 2,Phase 3,Not Applicable 306-40-1 5314
14
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 88495-63-0 6917864 5464098
15
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 15307-86-5 3033
16
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 6740-88-1 3821
17
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 22916-47-8 4189
18
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
19
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1134-47-0 2284
20
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 5908-99-6, 51-55-8 174174
21
Rocuronium Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 119302-91-9, 143558-00-3 441290
22
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 846-49-1 3958
23
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59467-70-8 4192
24
Oxycodone Approved, Illicit, Investigational Phase 4,Not Applicable 76-42-6 5284603
25
Acetaminophen Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 103-90-2 1983
26
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 83-98-7 4601
27
Sufentanil Approved, Investigational Phase 4,Phase 2,Not Applicable 56030-54-7 41693
28
Cisatracurium Approved Phase 4,Phase 3,Phase 2,Not Applicable 96946-41-7
29
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2078-54-8 4943
30
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-99-4 4456
31
Benzocaine Approved, Investigational Phase 4,Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
32
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 437-38-7 3345
33
Biperiden Approved, Investigational Phase 4,Phase 3 514-65-8 2381
34
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 303-53-7 2895
35
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Not Applicable 7487-88-9 24083
36
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
37
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 119380 68911
38 Parecoxib Approved Phase 4 198470-84-7
39
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
40
Benzydamine Approved Phase 4 100-46-9, 642-72-8 7504
41
Chlorzoxazone Approved Phase 4,Phase 1,Not Applicable 95-25-0 2733
42
Imipramine Approved Phase 4,Phase 3,Not Applicable 50-49-7 3696
43
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
44
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
45
Pantoprazole Approved Phase 4,Phase 2 102625-70-7 4679
46
Atovaquone Approved Phase 4 95233-18-4 74989
47
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
48
Aspirin Approved, Vet_approved Phase 4,Not Applicable 50-78-2 2244
49
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
50
Gabapentin Approved, Investigational Phase 4,Phase 3,Not Applicable,Early Phase 1 60142-96-3 3446

Interventional clinical trials:

(show top 50) (show all 444)
# 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 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Unknown status NCT01587274 Phase 4 Naproxen;Cyclobenzaprine;Oxycodone/ acetaminophen
3 Incidence and Severity of Residual Neuromuscular Blockade Unknown status NCT02660398 Phase 4
4 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4 Rocuronium;Succinylcholine
5 Effectiveness of Sugammadex in LMS Surgery Unknown status NCT02329964 Phase 4 Sugammadex;Neostigmine
6 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4 profound neuromuscular blockade
7 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
8 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4 atropine;Placebo
9 Botulinum Toxin A for Treatment of Catocholamine Induced Finger Necrosis Unknown status NCT01500668 Phase 4 Botox;Placebo
10 Street Fitness in Surgical Patients Undergoing General Anesthesia After Reversal of Neuromuscular Blockade Unknown status NCT01453530 Phase 4 Sugammadex;Neostigmine/Glycopyrrolate
11 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
12 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
13 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4 artesunate;Quinine
14 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4 Diazepam
15 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
16 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
17 Fade Upon TOF Stimulation Induced by Succinylcholine Completed NCT02425449 Phase 4 Succinylcholine
18 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
19 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
20 Preoperative Dexmedetomidine & EC50 of Propofol Completed NCT02097407 Phase 4 Group C : Saline + propofol group;Group D : Dexmedetomidine + propofol group
21 Effects of Intravenous Lidocaine Associated With Magnesium Sulfate on the Cisatracurium-Induced Neuromuscular Block Completed NCT02483611 Phase 4 Magnesium Sulfate;Lidocaine;Isotonic Solution;Cisatracurium
22 Orphenadrine and Methocarbamol for LBP Completed NCT02665286 Phase 4 Orphenadrine;Methocarbamol;Naproxen;Placebo
23 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
24 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
25 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
26 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
27 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
28 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
29 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4 Remifentanyl - sufentanil placebo;Sufentanil - remifentanyl placebo
30 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4 Rocuronium
31 To Evaluate the Effect of Chlorhexidine-benzidamine Administration Completed NCT03253497 Phase 4 Chlorobenzene Liquid
32 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4 Rocuronium + sugammadex;Succinylcholine + Neostigmine
33 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
34 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4 Remifentanil;Desflurane
35 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
36 Surgical Conditions During Laparoscopic Bariatric Surgery Completed NCT02703909 Phase 4 Rocuronium
37 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
38 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
39 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
40 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4 Parafon Forte
41 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
42 Efficacy And Safety Of Parecoxib 40mg vs. Ketoprofen 100mg In The Management Of Acute Renal Colic Completed NCT00553605 Phase 4 Ketoprofen 100mg;Parecoxib 40mg
43 A Non-inferiority Trial on Pain Relief During Oocyte Retrieval Completed NCT02494180 Phase 4 fentanyl;pethidine;Diazepam;Midazolam
44 Parenteral Artesunate Compared to Quinine as a Cause of Late Anaemia in African Children With Malaria Completed NCT02092766 Phase 4 artesunate;quinine
45 Tizanidine and Pain After Herniorrhaphy Completed NCT02016443 Phase 4 Tizanidine;Placebo
46 Comparative Study of Hemodynamic Changes Caused by Diazepam and Midazolam During Third Molar Surgery Completed NCT02177955 Phase 4 7.5 mg Midazolam;10 mg diazepam
47 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
48 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam
49 Quinine vs. Artemether/Lumefantrine in Uncomplicated Malaria During Pregnancy Completed NCT00495508 Phase 4 Quinine;artemether / lumefantrine
50 Ototoxicity of Artemether / Lumefantrine (Coartem) and Other Antimalarials Completed NCT00451139 Phase 4 artemether/lumefantrine;quinine;atovaquone/proguanil

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

41
Brain, Spinal Cord, Skeletal Muscle, Testes, Bone, Heart, Liver

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 459)
# Title Authors Year
1
First cardiac manifestation of hypotonia-cystinuria syndrome. ( 29627929 )
2018
2
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. ( 29935962 )
2018
3
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. ( 29130599 )
2018
4
Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling. ( 29936637 )
2018
5
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. ( 29130632 )
2018
6
Evidence-Based Clinical Algorithm for Hypotonia Assessment: To Pardon the Errs. ( 29853815 )
2018
7
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. ( 29924026 )
2018
8
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. ( 29440549 )
2018
9
I^IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. ( 29861105 )
2018
10
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
11
Effects of Activation of Preferred Stimulus on Tummy Time Behavior of an Infant with Down Syndrome and Associated Hypotonia. ( 29868339 )
2018
12
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
13
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. ( 28960836 )
2018
14
Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 29845577 )
2018
15
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
16
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. ( 29572195 )
2018
17
The Need of Interdisciplinary Approach for the Treatment of Children with Down Syndrome with Severe Caries Unintentionally Facilitated by Hypotonia Therapy. ( 29750627 )
2018
18
Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia. ( 29619238 )
2018
19
2q24 deletion in a 9-month old girl with anal atresia, hearing impairment, and hypotonia. ( 29728193 )
2018
20
Interventions to improve sensory and motor outcomes for young children with central hypotonia: A systematic review. ( 29630564 )
2018
21
Case 3: Acute Hypotonia, Hypothermia, and Altered Mental Status in a 10-month-old Girl. ( 29858295 )
2018
22
Homozygous <i>PIGT</i> Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3. ( 29868109 )
2018
23
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
24
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607 )
2017
25
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
26
Acute Hypotonia in an Infant. ( 28174033 )
2017
27
Case 3: Hypotonia, Respiratory Distress, and Cardiomegaly in a 3-month-old Boy. ( 28364051 )
2017
28
Neonatal hypotonia. ( 28370866 )
2017
29
Gross Motor Outcomes After Dynamic Weight-Bearing in 2 Children With Trunk Hypotonia: A Case Series. ( 28953184 )
2017
30
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant. ( 28060111 )
2017
31
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation. ( 28289675 )
2017
32
New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. ( 29052218 )
2017
33
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. ( 29162653 )
2017
34
Neonatal hypotonia. ( 28370868 )
2017
35
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. ( 28542722 )
2017
36
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. ( 28195318 )
2017
37
Case 1: Progressive Hypotonia and Decreased Alertness in an 8-month-old Girl. ( 28765200 )
2017
38
Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy. ( 28668235 )
2017
39
ClinicopathologicA Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. ( 28676249 )
2017
40
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. ( 28779497 )
2017
41
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. ( 28318089 )
2017
42
Congenital Hypotonia in Toddlerhood. ( 28816914 )
2017
43
Case 2: Hypotonia and Muscle Weakness since Birth in a 2-year-old Boy. ( 29093122 )
2017
44
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. ( 27040691 )
2016
45
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. ( 27389779 )
2016
46
Relationship Between Central Hypotonia and Motor Development in Infants Attending a High-Risk Neonatal Neurology Clinic. ( 27027244 )
2016
47
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. ( 27108799 )
2016
48
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. ( 27353517 )
2016
49
Clinical Reasoning: A neonate with micrognathia and hypotonia. ( 26903494 )
2016
50
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. ( 27782105 )
2016

Variations for Hypotonia

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
Show member pathways
11.25 PIGA PIGG PIGN PIGT
2
Show member pathways
10.54 PIGA PIGG PIGN PIGT

GO Terms for Hypotonia

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

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 9.13 PIGA PIGG PIGN
2 GPI anchor biosynthetic process GO:0006506 8.92 PIGA PIGG PIGN PIGT

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 ExPASy
19 FMA
28 GO
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