Aliases & Classifications for Hypotonia

Aliases & Descriptions for Hypotonia:

Name: Hypotonia 51

Summaries for Hypotonia

NINDS : 51 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 1 and hypotonia-cystinuria syndrome. 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 MECP2 and Associated Rett Syndrome. The drugs Dopamine and Baclofen have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Wikipedia : 71 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 635)
id Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.1
2 hypotonia-cystinuria syndrome 12.1
3 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.1
4 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.0
5 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.0
6 infantile hypotonia 12.0
7 hypotonia, infantile, with psychomotor retardation and characteristic facies 11.9
8 multiple congenital anomalies-hypotonia-seizures syndrome 11.9
9 hypotonia, ataxia, and delayed development syndrome 11.9
10 neurodevelopmental disorder with hypotonia, seizures, and absent language 11.9
11 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.9
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.9
13 growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 11.9
14 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 11.7
15 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.7
16 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 11.7
17 hypotonia-speech impairment-severe cognitive delay syndrome 11.7
18 cohen syndrome 11.6
19 intellectual disability-hypotonia-skin hyperpigmentation syndrome 11.6
20 x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 11.6
21 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 11.6
22 puerto rican infant hypotonia syndrome 11.6
23 short stature contractures hypotonia 11.6
24 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.6
25 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.6
26 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 11.6
27 hypotonia-homocystinuria syndrome 11.6
28 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 11.6
29 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 11.6
30 coarse face hypotonia constipation 11.6
31 mental retardation hypotonia skin hyperpigmentation 11.6
32 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 11.6
33 mental retardation macrocephaly coarse facies hypotonia 11.6
34 postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome 11.6
35 mitochondrial dna depletion syndrome 7 11.4
36 birk-barel mental retardation dysmorphism syndrome 11.3
37 mental retardation, x-linked syndromic, lubs type 11.2
38 focal segmental glomerulosclerosis 11.2
39 allan-herndon-dudley syndrome 11.2
40 mental retardation, autosomal dominant 31 11.2
41 qazi markouizos syndrome 11.2
42 combined oxidative phosphorylation deficiency 18 11.1
43 combined oxidative phosphorylation deficiency 5 11.1
44 congenital nonprogressive myopathy with moebius and robin sequences 11.1
45 diploid-triploid mosaicism 11.1
46 leigh syndrome 11.1
47 congenital disorder of glycosylation, type im 11.1
48 mitochondrial phosphate carrier deficiency 11.1
49 mental retardation, x-linked 102 11.1
50 lujan syndrome 11.1

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 504)
id 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, 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 8549 3034034
5
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 59467-70-8 4192
6
Acetaminophen Approved Phase 4,Phase 3 103-90-2 1983
7
Artesunate Approved Phase 4,Phase 3,Phase 2 88495-63-0 6917864 5464098
8
Acetylcholine Approved Phase 4,Phase 3,Phase 1,Phase 2 51-84-3 187
9
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-99-4 4456
10
Atropine Approved, Vet_approved Phase 4,Phase 2,Phase 3 5908-99-6, 51-55-8 174174
11
Succinylcholine Approved Phase 4,Phase 2,Phase 3 306-40-1 5314
12
Rocuronium Approved Phase 4,Phase 3,Phase 1,Phase 2 119302-91-9, 143558-00-3 441290
13
Bupropion Approved Phase 4,Phase 3,Phase 1,Phase 2 34841-39-9, 34911-55-2 444
14
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
15
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 22916-47-8 4189
16
Remifentanil Approved Phase 4,Phase 3,Phase 2 132875-61-7 60815
17
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1 50-48-6 2160
18
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 2180-92-9, 38396-39-3 2474
19
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
20
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 2078-54-8 4943
21
Orphenadrine Approved Phase 4,Phase 3,Early Phase 1 83-98-7 4601
22
Hydrocodone Approved, Illicit Phase 4,Phase 3 125-29-1 5284569
23
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
24
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
25
Lorazepam Approved Phase 4,Phase 2,Phase 3,Phase 1 846-49-1 3958
26
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
27
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
28
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 437-38-7 3345
29
Biperiden Approved Phase 4,Phase 3 514-65-8 2381
30
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Phase 1 303-53-7 2895
31
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
32
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380
33
Artemether Approved Phase 4,Phase 3,Phase 2 71963-77-4 119380 68911
34
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
35
Clonidine Approved Phase 4,Phase 3,Phase 1,Phase 2 4205-90-7 2803
36
Imipramine Approved Phase 4,Phase 3 50-49-7 3696
37
Pantoprazole Approved Phase 4,Phase 2 102625-70-7 4679
38
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 73590-58-6 4594
39
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
40
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
41
Histamine Approved, Investigational Phase 4,Phase 3 75614-87-8, 51-45-6 774
42
Haloperidol Approved Phase 4,Phase 3 52-86-8 3559
43
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
44
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
45
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
46
Isoflurane Approved, Vet_approved Phase 4,Phase 2,Phase 3 26675-46-7 3763
47
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
48
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
49
Ondansetron Approved Phase 4 99614-02-5 4595
50
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836

Interventional clinical trials:

(show top 50) (show all 364)
id Name Status NCT ID Phase
1 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Phase 4
2 A Randomized Study of Three Medication Regimens for Acute Low Back Pain Unknown status NCT01587274 Phase 4
3 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4
4 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4
5 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
6 Atropine Versus no Atropine for Neonatal Rapid Sequence Intubation Unknown status NCT01595399 Phase 4
7 Botulinum Toxin A for Treatment of Catocholamine Induced Finger Necrosis Unknown status NCT01500668 Phase 4
8 Street Fitness in Surgical Patients Undergoing General Anesthesia After Reversal of Neuromuscular Blockade Unknown status NCT01453530 Phase 4
9 Effect of Subanesthetic Dose of Ketamine Combined With Propofol on Cognitive Function in Depressive Patients Undergoing Electroconvulsive Therapy Unknown status NCT02305394 Phase 4
10 Effectiveness of Oral Quinine and Artemether-Lumefantrine in the Treatment of Uncomplicated Malaria in Ugandan Children Unknown status NCT00540202 Phase 4
11 Intravenous Artesunate and Malaria Unknown status NCT01805232 Phase 4
12 Optimization of Procedural Sedation Protocol Used for Dental Care Delivery in People With Mental Disability Unknown status NCT02078336 Phase 4
13 Prevention of Posttraumatic Stress Disorder (PTSD) With Diazepam Unknown status NCT01221883 Phase 4
14 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
15 Optimal Relaxation Technique for Laparotomies With Rocuronium Infusion Followed by Sugammadex Reversal Completed NCT01539044 Phase 4
16 Preoperative Dexmedetomidine & EC50 of Propofol Completed NCT02097407 Phase 4
17 Effects of Intravenous Lidocaine Associated With Magnesium Sulfate on the Cisatracurium-Induced Neuromuscular Block Completed NCT02483611 Phase 4
18 Diazepam for Acute LBP Completed NCT02646124 Phase 4
19 Impact of Anesthetic Choice (Sevoflurane Versus Desflurane) on Airway Reflex Recovery in the Context of Antagonized Neuromuscular Block Completed NCT01199237 Phase 4
20 The Effect of Chlorzoxazone on Moderate to Severe Postoperative Pain After Spine Surgery Completed NCT01933542 Phase 4
21 Tizanidine and Superficial Cervical Block on Pain After Thyroidectomy Completed NCT02725359 Phase 4
22 Shortening of the Twitch Stabilization Period by Tetanic Stimulation in Acceleromyography in Children and Young Adults Completed NCT02552875 Phase 4
23 Premedication for Non-Emergency Endotracheal Intubation In the NICU Completed NCT01749501 Phase 4
24 Remifentanil Versus Sufentanil for Intubation Condition Without Myorelaxant Completed NCT01910285 Phase 4
25 Deep Neuromuscular Relaxation in Patients for Thoraco-laparoscopic Esophagectomy Completed NCT02320734 Phase 4
26 Modern Myorelaxation Procedure and Reversal of Neuromuscular Blockade With General Anesthesia for Caesarean Section Completed NCT01718236 Phase 4
27 Sevoflurane-remifentanil EC50 (The 50% Effective Concentration) Values for LMA-Supreme Versus LMA ProSeal Insertion Completed NCT03003377 Phase 4
28 Improvement of Facial Nerve Monitoring in Parotid Surgery by Sugammadex Completed NCT02314234 Phase 4
29 Effect-site Concentration of Remifentanil for Smooth Induction With Desflurane Completed NCT02379715 Phase 4
30 Effect of Neuromuscular Blockade on Operating Conditions and Overall Satisfaction During Spinal Surgery Completed NCT02724111 Phase 4
31 Systematic Early Use of Neuromuscular Blocking Agents in ARDS Patients Completed NCT00299650 Phase 4
32 Enhancing the Effectiveness of Electroconvulsive Therapy in Severe Depression Completed NCT01907217 Phase 4
33 Quantifying Musical Performance After Treatment With Myobloc in Musician's Dystonia Completed NCT00208091 Phase 4
34 Placebo-Controlled Cross Over Trial of Chlorzoxazone Intake Completed NCT01342341 Phase 4
35 Study Evaluating Whether the Bispectral Index Prevents Patients at Higher Risk From Being Awake During Surgery and Anesthesia Completed NCT00682825 Phase 4
36 Quinine vs. Artemether/Lumefantrine in Uncomplicated Malaria During Pregnancy Completed NCT00495508 Phase 4
37 Treatment of Malaria With Quinine Plus Sulfadoxine-Pyrimethamine Completed NCT00167739 Phase 4
38 Parenteral Artesunate Compared to Quinine as a Cause of Late Anaemia in African Children With Malaria Completed NCT02092766 Phase 4
39 Tizanidine and Pain After Herniorrhaphy Completed NCT02016443 Phase 4
40 Comparative Study of Hemodynamic Changes Caused by Diazepam and Midazolam During Third Molar Surgery Completed NCT02177955 Phase 4
41 Therapeutic Effect of Quetiapine on Methamphetamine-Induced Psychosis Completed NCT01939093 Phase 4
42 Lofexidine for Inpatient Opiate Detox in Singapore Completed NCT01675648 Phase 4
43 Ototoxicity of Artemether / Lumefantrine (Coartem) and Other Antimalarials Completed NCT00451139 Phase 4
44 BOTOX® Versus Zanaflex® for the Treatment of Post-Stroke or Traumatic Brain Injury Upper Limb Spasticity Completed NCT00430196 Phase 4
45 An Effectiveness and Safety Study of Cyclobenzaprine HCl Alone or in Combination With Ibuprofen for Acute Back or Neck Muscle Pain With Muscle Spasm Completed NCT00246389 Phase 4
46 Fade Upon TOF Stimulation Induced by Succinylcholine Recruiting NCT02425449 Phase 4
47 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Recruiting NCT02449369 Phase 4
48 Incidence and Severity of Residual Neuromuscular Blockade Recruiting NCT02660398 Phase 4
49 Orphenadrine and Methocarbamol for LBP Recruiting NCT02665286 Phase 4
50 Use of Sugammadex for Reversal of Paralysis in Microlaryngoscopy Recruiting NCT03111121 Phase 4

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

39
Brain, Spinal Cord, Skeletal Muscle, Bone, Eye, Skin, Kidney

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 411)
id Title Authors Year
1
Relationship Between Central Hypotonia and Motor Development in Infants Attending a High-Risk Neonatal Neurology Clinic. ( 27027244 )
2016
2
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. ( 27040691 )
2016
3
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. ( 27094857 )
2016
4
Commentary on "Relationship Between Central Hypotonia and Motor Development in Infants Attending a High-Risk Neonatal Neurology Clinic". ( 27341583 )
2016
5
A 10-Month-Old With Intermittent Hypotonia and Paralysis. ( 27252036 )
2016
6
Case 1: Hypotonia and Failure to Thrive in a 3-month-old Boy. ( 26729781 )
2016
7
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. ( 26996948 )
2016
8
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. ( 26964512 )
2016
9
Novel GNB1 missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability. ( 27668284 )
2016
10
Clinical Reasoning: A neonate with micrognathia and hypotonia. ( 26903494 )
2016
11
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia. ( 26763878 )
2016
12
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. ( 27108799 )
2016
13
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. ( 27799064 )
2016
14
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia. ( 27626064 )
2016
15
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
16
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features. ( 27918309 )
2016
17
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. ( 26708751 )
2016
18
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. ( 27916860 )
2016
19
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. ( 26942288 )
2016
20
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. ( 27389779 )
2016
21
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. ( 27426735 )
2016
22
One-Month-Old Infant With Hypotonia and Cardiorespiratory Arrest. ( 27356634 )
2016
23
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. ( 26818738 )
2016
24
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. ( 27353517 )
2016
25
Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn. ( 27595265 )
2016
26
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family. ( 26364997 )
2015
27
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. ( 25920937 )
2015
28
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delay. ( 26358778 )
2015
29
Encephalopathy and Hypotonia due to Baclofen Toxicity in a Patient with End-Stage Renal Disease. ( 25895118 )
2015
30
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case. ( 26388897 )
2015
31
Neonatal hypotonia. ( 26042909 )
2015
32
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. ( 25487640 )
2015
33
De novo mutations in PURA are associated with hypotonia and developmental delay. ( 27148565 )
2015
34
Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. ( 25901006 )
2015
35
Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23. ( 26099517 )
2015
36
MEGALOCORNEA SHOULD BE INVESTIGATED IN CASES WITH HYPOTONIA AND MENTAL RETARDATION: NEUHAUSER SYNDROME--AN EASILY MISSED DIAGNOSIS. ( 26852516 )
2015
37
D-bifunctional protein deficiency: a cause of neonatal onset seizures and hypotonia. ( 25882080 )
2015
38
2 Month-Old Male with Hypotonia. ( 26276028 )
2015
39
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. ( 26545877 )
2015
40
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. ( 25683120 )
2015
41
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. ( 26394714 )
2015
42
Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis. ( 25738478 )
2015
43
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. ( 26264232 )
2015
44
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. ( 26576547 )
2015
45
Deletion of PREPl causes growth impairment and hypotonia in mice. ( 24586561 )
2014
46
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. ( 24579881 )
2014
47
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. ( 25439098 )
2014
48
A Pilot Study for Evaluation of Hypotonia in Children With Neurofibromatosis Type 1. ( 24789516 )
2014
49
An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities. ( 24646727 )
2014
50
Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay. ( 24700535 )
2014

Variations for Hypotonia

Copy number variations for Hypotonia from CNVD:

7 (show all 11)
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 PIGA PIGG PIGN PIGT
2 11.12 GAMT MECP2 UBE3A
3
Show member pathways
10.54 PIGA PIGG PIGN PIGT

GO Terms for Hypotonia

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.56 ABAT CAMKMT GAMT HECW2 PIGA PIGG
2 phosphotransferase activity, for other substituted phosphate groups GO:0016780 8.62 PIGG PIGN

Sources for Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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