Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 50

Summaries for Hypotonia

NINDS : 50 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 multiple congenital anomalies-hypotonia-seizures syndrome and infantile hypotonia. 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 Dopamine and Baclofen have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and testes.

Wikipedia : 72 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 786)
# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 33.5 PIGA PIGN
2 infantile hypotonia 33.4 CCDC174 MECP2 NALCN
3 hypotonia-speech impairment-severe cognitive delay syndrome 33.3 NALCN UNC80
4 hypotonia, infantile, with psychomotor retardation 33.0 CCDC174 NALCN TBCK UNC80
5 angelman syndrome 30.6 MAGEL2 MECP2 UBE3A
6 hypotonia-cystinuria syndrome 12.2
7 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.2
8 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.2
9 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.1
10 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.1
11 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.1
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.0
13 hypotonia, ataxia, and delayed development syndrome 12.0
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.0
15 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 12.0
16 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.0
17 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.0
18 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.0
19 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 11.9
20 hypotonia, seizures, and precocious puberty 11.9
21 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.9
22 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 11.9
23 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.8
24 cohen syndrome 11.7
25 x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 11.7
26 mental retardation macrocephaly coarse facies hypotonia 11.7
27 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.7
28 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.7
29 coarse face hypotonia constipation 11.7
30 short stature contractures hypotonia 11.7
31 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.7
32 puerto rican infant hypotonia syndrome 11.7
33 opitz-kaveggia syndrome 11.6
34 mitochondrial dna depletion syndrome 7 11.6
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 allan-herndon-dudley syndrome 11.4
41 lubs x-linked mental retardation syndrome 11.3
42 kcnk9 imprinting syndrome 11.3
43 mental retardation, autosomal dominant 31 11.3
44 combined oxidative phosphorylation deficiency 18 11.2
45 combined oxidative phosphorylation deficiency 31 11.2
46 pura syndrome 11.2
47 lujan syndrome 11.2
48 diploid-triploid mosaicism 11.2
49 leigh syndrome 11.2
50 combined oxidative phosphorylation deficiency 5 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 580)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
2
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1134-47-0 2284
3
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 439-14-5 3016
4
Quinine Approved Phase 4,Phase 3,Phase 2,Phase 1 130-95-0 3034034 8549
5
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59467-70-8 4192
6
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1 15307-86-5 3033
7
Acetaminophen Approved Phase 4,Phase 3,Early Phase 1 103-90-2 1983
8
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2 88495-63-0 5464098 6917864
9
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
10
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-99-4 4456
11
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3 5908-99-6, 51-55-8 174174
12
Succinylcholine Approved Phase 4,Phase 2,Phase 3 306-40-1 5314
13
Rocuronium Approved Phase 4,Phase 3,Phase 1,Phase 2 119302-91-9, 143558-00-3 441290
14
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
15
Naproxen Approved, Vet_approved Phase 4 22204-53-1 156391 1302
16
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 22916-47-8 4189
17
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
18 Cisatracurium Approved, Experimental Phase 4,Phase 3,Phase 2 96946-41-7
19
Remifentanil Approved Phase 4,Phase 3,Phase 2 132875-61-7 60815
20
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1 50-48-6 2160
21
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 38396-39-3, 2180-92-9 2474
22
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Early Phase 1 6740-88-1 3821
23
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 2078-54-8 4943
24
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1 83-98-7 4601
25
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
26
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
27
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
28
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1 846-49-1 3958
29
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3 1994-09-7, 94-09-7 2337
30
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 437-38-7 3345
32
Meperidine Approved Phase 4 57-42-1 4058
33
Sufentanil Approved, Investigational Phase 4,Phase 2 56030-54-7 41693
34
Biperiden Approved, Investigational Phase 4,Phase 3 514-65-8 2381
35
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
36
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1 303-53-7 2895
37
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 68911 119380
38
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
39
Ethanol Approved Phase 4,Phase 2,Phase 3,Phase 1 64-17-5 702
40
Norepinephrine Approved Phase 4,Phase 2,Phase 3 51-41-2 439260
41
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
42
Gabapentin Approved, Investigational Phase 4,Phase 3,Early Phase 1 60142-96-3 3446
43
Imipramine Approved Phase 4,Phase 3 50-49-7 3696
44
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
45
Pantoprazole Approved Phase 4,Phase 2 102625-70-7 4679
46
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
47
Morphine Approved, Investigational Phase 4,Phase 2 57-27-2 5288826
48
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
49
Tolbutamide Approved, Investigational Phase 4,Phase 1 64-77-7 5505
50
Memantine Approved, Investigational Phase 4,Phase 3 19982-08-2 4054

Interventional clinical trials:

(show top 50) (show all 643)

# 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 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Phase 4 Rocuronium
3 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Unknown status NCT01587274 Phase 4 Naproxen;Cyclobenzaprine;Oxycodone/ acetaminophen
4 Incidence and Severity of Residual Neuromuscular Blockade Unknown status NCT02660398 Phase 4
5 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4 Rocuronium;Succinylcholine
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 Effectiveness of Sugammadex in LMS Surgery Unknown status NCT02329964 Phase 4 Sugammadex;Neostigmine
13 A Non-inferiority Trial on Pain Relief During Oocyte Retrieval Unknown status NCT02494180 Phase 4 fentanyl;pethidine;Diazepam;Midazolam
14 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
15 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4 artesunate;Quinine
16 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4 Diazepam
17 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
18 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
19 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
20 Fade Upon TOF Stimulation Induced by Succinylcholine Completed NCT02425449 Phase 4 Succinylcholine
21 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
22 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
23 Preoperative Dexmedetomidine & EC50 of Propofol Completed NCT02097407 Phase 4 Group C : Saline + propofol group;Group D : Dexmedetomidine + propofol group
24 Effects of Intravenous Lidocaine Associated With Magnesium Sulfate on the Cisatracurium-Induced Neuromuscular Block Completed NCT02483611 Phase 4 Magnesium Sulfate;Lidocaine;Isotonic Solution;Cisatracurium
25 Diazepam for Acute LBP Completed NCT02646124 Phase 4 Naproxen;Placebo;Diazepam
26 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
27 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
28 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
29 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
30 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
31 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
32 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4 Remifentanyl - sufentanil placebo;Sufentanil - remifentanyl placebo
33 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4 Rocuronium
34 To Evaluate the Effect of Chlorhexidine-benzidamine Administration Completed NCT03253497 Phase 4 Chlorobenzene Liquid
35 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4 Rocuronium + sugammadex;Succinylcholine + Neostigmine
36 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
37 Improvement of Facial Nerve Monitoring in Parotid Surgery by Sugammadex Completed NCT02314234 Phase 4 sugammadex (Bridion)
38 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4 Remifentanil;Desflurane
39 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
40 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
41 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
42 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
43 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4 Parafon Forte
44 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
45 Treatment of Binge Eating in Obese Patients in Primary Care Completed NCT00537810 Phase 4 Sibutramine;Placebo
46 An Open-Label Trial of Memantine in the Treatment of Binge Eating Disorder Completed NCT00330655 Phase 4 memantine
47 Atomoxetine in the Treatment of Binge Eating Disorder Completed NCT00327834 Phase 4 atomoxetine
48 Influence of Appetite Related Hormones in Binge Eating Behaviour Among the Overweight and Obese Completed NCT01739049 Phase 4 Liraglutide
49 Study of Duloxetine vs Placebo in Treatment of Binge Eating Disorder With Depression Completed NCT00607789 Phase 4 Duloxetine;Placebo
50 Study of Behavioral Weight Loss Therapy for Obesity and Binge Eating in Monolingual Hispanic Persons Completed NCT00516919 Phase 4 Xenical + behavioral intervention

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

38
Brain, Spinal Cord, Testes, Skeletal Muscle, Liver, Heart, Breast

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 439)
# Title Authors Year
1
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients. ( 29130599 )
2018
2
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. ( 29440549 )
2018
3
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. ( 28960836 )
2018
4
Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. ( 29225339 )
2018
5
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2). ( 29430593 )
2018
6
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. ( 29130632 )
2018
7
Case 1: Progressive Hypotonia and Decreased Alertness in an 8-month-old Girl. ( 28765200 )
2017
8
Neonatal hypotonia. ( 28370868 )
2017
9
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation. ( 28289675 )
2017
10
Case 3: Hypotonia, Respiratory Distress, and Cardiomegaly in a 3-month-old Boy. ( 28364051 )
2017
11
ClinicopathologicA Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. ( 28676249 )
2017
12
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant. ( 28060111 )
2017
13
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. ( 28542722 )
2017
14
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia. ( 28318089 )
2017
15
Acute Hypotonia in an Infant. ( 28174033 )
2017
16
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. ( 29162653 )
2017
17
Congenital Hypotonia in Toddlerhood. ( 28816914 )
2017
18
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
19
Neonatal hypotonia. ( 28370866 )
2017
20
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay. ( 28779497 )
2017
21
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
22
New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. ( 29052218 )
2017
23
Gross Motor Outcomes After Dynamic Weight-Bearing in 2 Children With Trunk Hypotonia: A Case Series. ( 28953184 )
2017
24
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. ( 28195318 )
2017
25
Case 2: Hypotonia and Muscle Weakness since Birth in a 2-year-old Boy. ( 29093122 )
2017
26
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607 )
2017
27
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
28
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. ( 27916860 )
2016
29
A 10-Month-Old With Intermittent Hypotonia and Paralysis. ( 27252036 )
2016
30
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. ( 27040691 )
2016
31
Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental Delay. ( 26739101 )
2016
32
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. ( 27094857 )
2016
33
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. ( 27799064 )
2016
34
Case 1: Hypotonia and Failure to Thrive in a 3-month-old Boy. ( 26729781 )
2016
35
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy. ( 27782105 )
2016
36
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. ( 27389779 )
2016
37
One-Month-Old Infant With Hypotonia and Cardiorespiratory Arrest. ( 27356634 )
2016
38
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. ( 27626064 )
2016
39
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. ( 27426735 )
2016
40
Commentary on "Relationship Between Central Hypotonia and Motor Development in Infants Attending a High-Risk Neonatal Neurology Clinic". ( 27341583 )
2016
41
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. ( 26996948 )
2016
42
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. ( 26942288 )
2016
43
Clinical Reasoning: A neonate with micrognathia and hypotonia. ( 26903494 )
2016
44
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. ( 26708751 )
2016
45
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. ( 26763878 )
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
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. ( 26964512 )
2016
50
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. ( 27595265 )
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
11.13 PIGA PIGG PIGN
2
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

Sources for Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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41 MeSH
42 MESH via Orphanet
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45 NCI
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51 Novoseek
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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