MCID: HYP265
MIFTS: 41

Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 54

Classifications:



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 infantile hypotonia and hypotonia-speech impairment-severe cognitive delay syndrome. An important gene associated with Hypotonia is NALCN (Sodium Leak Channel, Non-Selective), and among its related pathways/superpathways are SMAD Signaling Network and Post-translational modification- synthesis of GPI-anchored proteins. The drugs Fentanyl and Rocuronium 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 821)
# Related Disease Score Top Affiliating Genes
1 infantile hypotonia 33.6 CCDC174 NALCN UNC80
2 hypotonia-speech impairment-severe cognitive delay syndrome 33.5 NALCN UNC80
3 multiple congenital anomalies-hypotonia-seizures syndrome 33.5 PIGA PIGN
4 hypotonia, infantile, with psychomotor retardation 33.3 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 3 12.4
9 multiple congenital anomalies-hypotonia-seizures syndrome 1 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 12.1
21 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.1
22 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.0
23 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.0
24 hypotonia, seizures, and precocious puberty 12.0
25 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.9
26 cohen syndrome 11.9
27 puerto rican infant hypotonia syndrome 11.9
28 coarse face hypotonia constipation 11.9
29 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.9
30 mental retardation macrocephaly coarse facies hypotonia 11.9
31 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.9
32 short stature contractures hypotonia 11.9
33 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.9
34 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.9
35 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay 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 11.6
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 11.4
46 kcnk9 imprinting syndrome 11.4
47 grubben de cock borghgraef syndrome 11.4
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 554)
# 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
Rocuronium Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 119302-91-9, 143558-00-3 441290
3
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 28523-86-6 5206
4
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2078-54-8 4943
5
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 59-99-4 4456
6
Succinylcholine Approved Phase 4,Phase 2,Phase 3,Not Applicable 306-40-1 5314
7
Atracurium Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 64228-79-1 47319
8
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 51-55-8, 5908-99-6 174174
9
Cisatracurium Approved Phase 4,Phase 3,Phase 2,Not Applicable 96946-41-7
10
Benzocaine Approved, Investigational Phase 4,Phase 3,Not Applicable 94-09-7, 1994-09-7 2337
11 tannic acid Approved Phase 4,Phase 3,Not Applicable
12
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
13
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 303-53-7 2895
14
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
15
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 6740-88-1 3821
16
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 59467-70-8 4192
17
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
18
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 846-49-1 3958
19
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 439-14-5 3016
20
Biperiden Approved, Investigational Phase 4,Phase 3 514-65-8 2381
21
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 51-61-6, 62-31-7 681
22
Quinine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 130-95-0 3034034 8549
23
Artesunate Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 88495-63-0 5464098 6917864
24
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 22916-47-8 4189
25
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
26
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 119380 68911
27
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1,Not Applicable 83-98-7 4601
28
Acetaminophen Approved Phase 4,Phase 3,Not Applicable,Early Phase 1 103-90-2 1983
29
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 7487-88-9 24083
30
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 1134-47-0 2284
31
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
32
Remifentanil Approved Phase 4,Phase 3,Phase 2,Not Applicable 132875-61-7 60815
33
Sufentanil Approved, Investigational Phase 4,Phase 2,Not Applicable 56030-54-7 41693
34
Ketoprofen Approved, Vet_approved Phase 4,Phase 3 22071-15-4 3825
35
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 15307-86-5 3033
36
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
37
Caffeine Approved Phase 4,Phase 3,Phase 1,Not Applicable 58-08-2 2519
38
Valproic Acid Approved, Investigational Phase 4,Phase 3,Not Applicable 99-66-1 3121
39
Hydromorphone Approved, Illicit Phase 4,Early Phase 1,Not Applicable 466-99-9 5284570
40
Oxycodone Approved, Illicit, Investigational Phase 4,Not Applicable 76-42-6 5284603
41
Naproxen Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 22204-53-1 1302 156391
42
Hydrocodone Approved, Illicit, Investigational Phase 4,Not Applicable 125-29-1 5284569
43
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 113775-47-6 68602 5311068
44
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 137-58-6 3676
45
Methocarbamol Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 532-03-6 4107
46
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
47
Tizanidine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 51322-75-9 5487
48
Ibuprofen Approved Phase 4,Phase 2,Not Applicable 15687-27-1 3672
49
Metaxalone Approved Phase 4 1665-48-1 15459
50
Desflurane Approved Phase 4,Not Applicable 57041-67-5 42113

Interventional clinical trials:

(show top 50) (show all 475)
# 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 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4 Rocuronium;Succinylcholine
4 Effectiveness of Sugammadex in LMS Surgery Unknown status NCT02329964 Phase 4 Sugammadex;Neostigmine
5 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4 profound neuromuscular blockade
6 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
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 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
12 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4 artesunate;Quinine
13 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4 Diazepam
14 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
15 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
16 Fade Upon TOF Stimulation Induced by Succinylcholine Completed NCT02425449 Phase 4 Succinylcholine
17 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
18 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
19 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Completed NCT01587274 Phase 4 Naproxen;Cyclobenzaprine;Oxycodone/ acetaminophen
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 Ibuprofen Plus Metaxolone, Tizanidine, or Baclofen for Low Back Pain Completed NCT03068897 Phase 4 Metaxalone;Tizanidine;Baclofen;Ibuprofen 600 mg
24 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
25 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
26 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4 Placebo;Chlorzoxazone;Morphine;Zofran
27 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4 Placebo;Tizanidine;Bupivacaine;Saline
28 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
29 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4 Rocuronium
30 Speed of Recovery of Reversal of Neuromuscular Blockade in Geriatric Patients Undergoing Spine Surgery Completed NCT03112993 Phase 4 sugammadex;Neostigmine
31 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4 Remifentanyl - sufentanil placebo;Sufentanil - remifentanyl placebo
32 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4 Rocuronium
33 To Evaluate the Effect of Chlorhexidine-benzidamine Administration Completed NCT03253497 Phase 4 Chlorobenzene Liquid
34 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4 Rocuronium + sugammadex;Succinylcholine + Neostigmine
35 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
36 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4 Remifentanil;Desflurane
37 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
38 Surgical Conditions During Laparoscopic Bariatric Surgery Completed NCT02703909 Phase 4 Rocuronium
39 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
40 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4 cisatracurium;Placebo;Cisatracurium besilate
41 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4 Botulinum toxin, type B
42 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4 Parafon Forte
43 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
44 Efficacy And Safety Of Parecoxib 40mg vs. Ketoprofen 100mg In The Management Of Acute Renal Colic Completed NCT00553605 Phase 4 Ketoprofen 100mg;Parecoxib 40mg
45 A Non-inferiority Trial on Pain Relief During Oocyte Retrieval Completed NCT02494180 Phase 4 fentanyl;pethidine;Diazepam;Midazolam
46 Parenteral Artesunate Compared to Quinine as a Cause of Late Anaemia in African Children With Malaria Completed NCT02092766 Phase 4 artesunate;quinine
47 Tizanidine and Pain After Herniorrhaphy Completed NCT02016443 Phase 4 Tizanidine;Placebo
48 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
49 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4 Diazepam;Stugeron
50 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4 Lofexidine;Diazepam;Placebo for Lofexidine;Placebo for Diazepam

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, Eye, Liver, Heart

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 483)
# 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
Correction to: Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation. ( 30145696 )
2018
24
Non-Immune Hydrops, Hypotonia, Encephalopathy, and Liver Failure with Novel Compound Heterozygous AHCY Mutations. ( 30121674 )
2018
25
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. ( 30012219 )
2018
26
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. ( 30061063 )
2018
27
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3. ( 30103036 )
2018
28
A Case of Shwachman-Diamond Syndrome who Presented with Hypotonia. ( 30105119 )
2018
29
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. ( 30124836 )
2018
30
Significant hyperopic shift in a patient with extreme myopia following severe hypotonia caused by glaucoma filtering surgery. ( 30175614 )
2018
31
Neonatal hypotonia: is it a diagnostic challenge? ( 30289151 )
2018
32
A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency. ( 30440076 )
2018
33
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review. ( 30501482 )
2018
34
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
35
Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. ( 29096607 )
2017
36
Novel PEX26 Mutation Causing Zellweger Syndrome Presenting as Feeding Intolerance and Hypotonia. ( 28823628 )
2017
37
Acute Hypotonia in an Infant. ( 28174033 )
2017
38
Case 3: Hypotonia, Respiratory Distress, and Cardiomegaly in a 3-month-old Boy. ( 28364051 )
2017
39
Neonatal hypotonia. ( 28370866 )
2017
40
Gross Motor Outcomes After Dynamic Weight-Bearing in 2 Children With Trunk Hypotonia: A Case Series. ( 28953184 )
2017
41
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant. ( 28060111 )
2017
42
Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation. ( 28289675 )
2017
43
New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. ( 29052218 )
2017
44
De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. ( 29162653 )
2017
45
Neonatal hypotonia. ( 28370868 )
2017
46
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. ( 28542722 )
2017
47
Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability. ( 28195318 )
2017
48
Case 1: Progressive Hypotonia and Decreased Alertness in an 8-month-old Girl. ( 28765200 )
2017
49
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
50
ClinicopathologicA Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet. ( 28676249 )
2017

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 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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