MCID: HYP265
MIFTS: 42

Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 53 6

Classifications:



Summaries for Hypotonia

NINDS : 53 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 multiple congenital anomalies-hypotonia-seizures syndrome 1. An important gene associated with Hypotonia is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The drugs Neostigmine and Atropine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Wikipedia : 74 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 1254)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 34.1 UNC80 NALCN
2 multiple congenital anomalies-hypotonia-seizures syndrome 1 34.1 PIGN PIGG
3 multiple congenital anomalies-hypotonia-seizures syndrome 2 34.0 PIGG PIGA
4 multiple congenital anomalies-hypotonia-seizures syndrome 34.0 PIGN PIGG PIGA
5 hypotonia, infantile, with psychomotor retardation 33.8 UNC80 TBCK NALCN CCDC174
6 infantile hypotonia 33.7 UNC80 TBCK NALCN CCDC174
7 alacrima, achalasia, and mental retardation syndrome 31.3 UBE3A PURA GNB1 EBF3 AHDC1
8 visual epilepsy 30.4 UBE3A TBCK PURA NALCN GNB1
9 west syndrome 29.9 UNC80 PIGA GNB1
10 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
11 hypotonia-cystinuria syndrome 12.5
12 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.5
13 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.5
14 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.5
15 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.5
16 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.4
17 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.4
18 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 12.4
19 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 12.4
20 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 12.4
21 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 12.4
22 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.4
23 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 12.4
24 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.4
25 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 12.4
26 hypotonia, ataxia, and delayed development syndrome 12.3
27 puerto rican infant hypotonia syndrome 12.3
28 spastic tetraplegia and axial hypotonia, progressive 12.3
29 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
30 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 12.3
31 intellectual developmental disorder with hypotonia and behavioral abnormalities 12.3
32 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 12.3
33 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.2
34 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.2
35 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.2
36 hypotonia, seizures, and precocious puberty 12.2
37 cohen syndrome 12.1
38 coarse face hypotonia constipation 12.0
39 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.0
40 obsolete: intellectual disability-hypotonia-skin hyperpigmentation syndrome 12.0
41 hypotonia-cystinuria type 1 syndrome 12.0
42 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 12.0
43 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.0
44 opitz-kaveggia syndrome 12.0
45 allan-herndon-dudley syndrome 11.9
46 mitochondrial dna depletion syndrome 7 11.9
47 qazi markouizos syndrome 11.9
48 mental retardation, autosomal dominant 31 11.8
49 growth retardation, small and puffy hands and feet, and eczema 11.8
50 combined oxidative phosphorylation deficiency 31 11.8

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 154)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
2
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
3
Orphenadrine Approved Phase 4 83-98-7 4601
4
Acetaminophen Approved Phase 4 103-90-2 1983
5
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
6
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
7
Succinylcholine Approved Phase 4 306-40-1 5314
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Memantine Approved, Investigational Phase 4 19982-08-2 4054
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12 Bromides Phase 4
13 Neuromuscular Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Autonomic Agents Phase 4
16 Muscarinic Antagonists Phase 4
17 Cholinergic Agents Phase 4
18 Mydriatics Phase 4
19 Cholinergic Antagonists Phase 4
20 Cholinesterase Inhibitors Phase 4
21 Adjuvants, Anesthesia Phase 4
22 Anti-Asthmatic Agents Phase 4
23 Respiratory System Agents Phase 4
24 Bronchodilator Agents Phase 4
25 Parasympatholytics Phase 4
26 Antipyretics Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Acetaminophen, hydrocodone drug combination Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Antiparkinson Agents Phase 4
31 Pharmaceutical Solutions Phase 4
32 Parenteral Nutrition Solutions Phase 4
33 Fat Emulsions, Intravenous Phase 4
34 Soy Bean Phase 4
35 Dopamine Agents Phase 4
36 Excitatory Amino Acid Antagonists Phase 4
37 Excitatory Amino Acids Phase 4
38 Neuromuscular Nondepolarizing Agents Phase 4
39 Neuromuscular Blocking Agents Phase 4
40 Anti-Arrhythmia Agents Phase 4
41 Anesthetics, Local Phase 4
42 Sodium Channel Blockers Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Mitogens Phase 4
45 Insulin, Globin Zinc Phase 4
46 insulin Phase 4
47
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
48
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
49
Remifentanil Approved Phase 3 132875-61-7 60815
50
Somatostatin Approved, Investigational Phase 3 51110-01-1, 38916-34-6 53481605

Interventional clinical trials:

(show top 50) (show all 103)
# Name Status NCT ID Phase Drugs
1 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
2 The Effect of 0.6 vs. 1.2 Milligram Atropine Together With Neostigmine 2.5 Milligram on Heart Rate in Patient Receiving Muscle Relaxant During General Anesthesia Completed NCT02186132 Phase 4 Atropine 0.6 mg;Atropine 1.2 mg
3 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Arthroplasty (TKA). Prospective, Randomized, Open-label Trial to Determine if Switching From Oral to Intravenous Acetaminophen and Orphenadrine for 48 Hours After TKA Improves Outcomes. 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
4 Phase 4 Study of Optimal Relaxation With Rocuronium Infusion Followed by Rapid Reliable Reversal With Sugammadex: A Comparison With Conventional Practice Completed NCT01539044 Phase 4 Neostigmine, atropine;Sugammadex
5 The Effects of Two Different Intravenous Lipid Emulsions on the Outcomes of Preterm Infants With Sepsis: a Randomized Pilot Controlled Trial Completed NCT03275090 Phase 4 Smoflipid ®
6 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
7 A Sixteen-Week, Randomized, Double Blind, Placebo-Controlled Evaluation of the Efficacy, Tolerability and Safety of Memantine Hydrochloride on Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
8 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant; Impact on Postoperative Sore Throat and Haemodynamics Recruiting NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
9 Treatment With Growth Hormone in Adults With PWS, Effect on Muscular Tone Evaluated by Functional MRI, Relationship With Strength and Body Composition Active, not recruiting NCT03616509 Phase 4 Growth hormone;Placebo
10 NEWBORN VENTILATION IN THE DELIVERY ROOM: CAN IT BE IMPROVED WITH A LARYNGEAL MASK AIRWAY? A Prospective, Randomized Single-center Study Unknown status NCT01963936 Phase 3
11 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
12 Double-Blind, Placebo-Controlled, Efficacy and Safety Study of Clobazam in Patients With Lennox-Gastaut Syndrome Completed NCT00518713 Phase 3 Clobazam Low Dose;Clobazam Medium Dose;Clobazam High Dose;Placebo
13 Requirement of Skeletal Muscle Paralysis in Hypothermic Patients After Cardiac Arrest - a Pilot Study Completed NCT01719770 Phase 3 rocuronium
14 NEWBORN VENTILATION IN THE DELIVERY ROOM: CAN IT BE IMPROVED WITH A T-PIECE RESUSCITATOR? Multicenter Cross-over Cluster Randomized Controlled Trial Completed NCT00443118 Phase 3
15 Assessment of Remifentanil for Rapid Sequence Induction and Intubation in Full Stomach Patient Compared to Muscle Relaxant. A Non-inferiority Simple Blind Randomized Controlled Trial Recruiting NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
16 Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target Not yet recruiting NCT03831425 Phase 3
17 Effect of Somatostatin on Ghrelin Concentrations, Food Seeking Behaviour and Weight in Patients With Prader-Willi Syndrome Terminated NCT00175305 Phase 3 Sandostatin LAR
18 Randomised Open Study of the Efficiency and Tolerance of the Use of a Corset on the Respiratory Function of Spinal Cord Injury Patients Withdrawn NCT01569360 Phase 3
19 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
20 Treatment of Nodding Syndrome - A Randomized Blinded Placebo-Controlled Crossover Trial of Oral Pyridoxine and Conventional Anti-Epileptic Therapy, in Northern Uganda — 2012 Unknown status NCT01730313 Phase 2 Pyridoxine;Sodium Valproate;Phenytoin;Placebo
21 Evaluation of Tolerance, Suckling and Food Intake After Repeated Nasals Administrations of Oxytocin in PWS Infants Completed NCT02205034 Phase 1, Phase 2 oxytocin
22 The Effectiveness of Neostigmine on the Recovery of Rocuronium-Induced Neuromuscular Blockade: A Comparison Between Partial Dose and TOF Ratio-Based Adjustment Dose Completed NCT03058263 Phase 1, Phase 2 Dose of Neostigmine
23 Tolerance of Intranasal Administration of OT in Prader-Willi Newborn Babies and Effect on Suck and Food Intake. Completed NCT01548521 Phase 1, Phase 2 Oxytocin
24 Target-Controlled Infusion of Remifentanil Without Muscle Relaxant Allows Acceptable Surgical Conditions During Thoracotomy Completed NCT02030808 Phase 2 Muscle Relaxants (MR) group;Non- Muscle Relaxants (NMR) group
25 Phase 2 Study: Intranasal Oxytocin vs. Placebo for the Treatment of Hyperphagia in Children and Adolescents With Prader-Willi Syndrome Recruiting NCT03197662 Phase 2 Intranasal Oxytocin (IN-OXT);Matched Placebo
26 An Open Label Trial of Growth Hormone in Children and Adolescents With Phelan-McDermid Syndrome Targeting Social Withdrawal Recruiting NCT04003207 Phase 2 Recombinant human Growth hormone
27 Comparison of Intubating Condition of the Mcgrath Videolaryngoscope With and Without Muscle Relaxant Completed NCT02575716 Phase 1
28 Safety & Efficacy of Investigational Products: Ornithine Alpha-ketoglutarate, Glutamine, or Disodium Citrate on Hyperammonemia in Propionic Acidemia. Completed NCT00645879 Phase 1 ornithine alpha ketoglutarate;glutamine;disodium citrate
29 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
30 PREPL in Health and Disease Unknown status NCT02263781
31 Experience With Growth Hormone (GH) in Children Under 2 Years With Prader-Willi Syndrome (PWS) in the Pediatric Endocrine Department of the Hospital of Sabadell Unknown status NCT02205450 Recombinant Somatropin
32 Risk Factors For Postoperative Respiratory Complications After Anesthesia Unknown status NCT01871051
33 Effects of Transcranial Direct Current Stimulation (tDCS) on Obsessive Compulsive Behavior and Depressive Symptoms on Individuals With Prader-Willi Syndrome Unknown status NCT03324906
34 Application of Diffusion Tensor Imaging and Tractography in Pediatric Tumor Surgery Unknown status NCT02810626
35 Family-based Exercise Intervention for Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02058342
36 Hammock Positioning's Influence on the Electromyographic Activity in the Flexor Muscles in Newborn Preterm Unknown status NCT02621996
37 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
38 Post Exercise Irisin Levels in PWS Patients Unknown status NCT02728544
39 Epidemiologic Study on Short and Long-Term Effects of Anesthesia With Muscle Relaxants (Epidemiologische Untersuchung Kurz- Und längerfristiger Auswirkungen Der Anästhesie Mit Muskelrelaxanzien) Unknown status NCT00753389
40 A Study On the Risk of Nosocomial Infection in Mechanically Ventilated Neonate In NICU of Assiut University Children Hospital PROTOCOL OF THESIS Descriptive Study Unknown status NCT03310840
41 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
42 Efficiency and Safety of Phenylephrine and Tropicamide Used in Premature Retinopathy Completed NCT03448640 Drug used in the examination of premature infants.
43 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
44 A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2) Completed NCT03701568 dC/dT
45 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
46 Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy Type II and III Treated With Valproic Acid Completed NCT01033331
47 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium;Rocuronium
48 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
49 POPULAR: POst-operative PULmonary Complications After Use of Muscle Relaxants in Europe - A European Prospective Multicenter Observational Study Completed NCT01865513
50 Pilot Study of Startle-response Test to Assess Transcranial Direct Current Stimulation- Induced Modulation of Hyperphagia in Prader-Willi Syndrome Completed NCT01863017

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

40
Brain, Spinal Cord, Skeletal Muscle, Heart, Eye, Liver, Testes

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 7626)
# Title Authors PMID Year
1
Intrauterine growth restriction associated with paternal isodisomy of chromosome 5: a clinical report and literature survey. 61
30189761 2020
2
Exercise Training as Part of Musculoskeletal Management for Congenital Myopathy: Where Are We Now? 61
31926608 2020
3
3-Hydroxy-3-Methylglutaric Acid Impairs Redox and Energy Homeostasis, Mitochondrial Dynamics, and Endoplasmic Reticulum-Mitochondria Crosstalk in Rat Brain. 61
31721046 2020
4
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. 61
31509304 2020
5
Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency. 61
31541997 2020
6
A novel de novo variant of LAMA2 contributes to merosin deficient congenital muscular dystrophy type 1A: Case report. 61
31929873 2020
7
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. 61
31928709 2020
8
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities. 61
32004447 2020
9
De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. 61
32031333 2020
10
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene. 61
32013889 2020
11
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders. 61
31627234 2020
12
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature. 61
31569255 2020
13
Recurrent Episodes of Hypotonia, Encephalopathy, and Quadriparesis in a 3-Year-Old Female. 61
31709820 2020
14
A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report. 61
31828823 2020
15
d-Glycerate kinase deficiency in a neuropediatric patient. 61
31837836 2020
16
[Analysis of the concept of the Zika Virus congenital syndrome]. 61
32022196 2020
17
Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia. 61
31707166 2020
18
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry. 61
31568707 2020
19
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 61
31325031 2020
20
[Cutaneous hyperpigmentation secondary to vitamin B12 deficiency in an infant]. 61
31984713 2020
21
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. 61
32004445 2020
22
Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency. 61
31935764 2020
23
Incontinence and psychological symptoms in Phelan-McDermid syndrome. 61
31663160 2020
24
CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers. 61
31953239 2020
25
Food-induced anaphylaxis in infancy compared to preschool age: A retrospective analysis. 61
31651059 2020
26
A multi-disciplinary clinic for SCN8A-related epilepsy. 61
31887642 2020
27
Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. 61
32004679 2020
28
Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia. 61
31529709 2020
29
Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature. 61
31919734 2020
30
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review. 61
31913971 2020
31
Commentary on "Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review". 61
31913972 2020
32
ATP8A2-related disorders as recessive cerebellar ataxia. 61
31612321 2020
33
Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation. 61
31868880 2020
34
Malignant Infantile Osteopetrosis: A Case Report. 61
32015934 2020
35
A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. 61
32000367 2020
36
Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants. 61
31493991 2020
37
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. 61
31462754 2020
38
[Successful multidisciplinary management of tetraplegia with a thoracic operation. Unicentric, mediastinal Castleman disease]. 61
31884815 2020
39
POLR3A variants with striatal involvement and extrapyramidal movement disorder. 61
31940116 2020
40
Congenital Myotonic Dystrophy and Brugada Syndrome: A Report of Two Cases. 61
31915326 2020
41
Expanded PCH1D phenotype linked to EXOSC9 mutation. 61
30690203 2020
42
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. 61
31970214 2020
43
Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone. 61
31907305 2020
44
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. 61
31997314 2020
45
KPTN gene homozygous variant-related syndrome in the northeast of Brazil: A case report. 61
31999056 2020
46
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor. 61
31972898 2020
47
Brain white matter abnormalities associated with copy number variants. 61
31622028 2020
48
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. 61
31949314 2020
49
Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review. 61
31477274 2020
50
Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. 61
31670473 2020

Variations for Hypotonia

ClinVar genetic disease variations for Hypotonia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
2 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)SNV Pathogenic 224714 rs869312823 1:1737948-1737948 1:1806509-1806509
3 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)SNV Pathogenic/Likely pathogenic 224712 rs869312822 1:1737953-1737953 1:1806514-1806514
4 GNB1 NM_002074.5(GNB1):c.227A>G (p.Asp76Gly)SNV Pathogenic/Likely pathogenic 224711 rs869312821 1:1737954-1737954 1:1806515-1806515
5 GNB1 NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)SNV Pathogenic/Likely pathogenic 224718 rs869312826 1:1718817-1718817 1:1787378-1787378
6 GNB1 NM_002074.5(GNB1):c.301A>G (p.Met101Val)SNV Pathogenic/Likely pathogenic 224717 rs869312825 1:1735987-1735987 1:1804548-1804548
7 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
8 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)SNV Pathogenic/Likely pathogenic 224715 rs752746786 1:1737942-1737942 1:1806503-1806503
9 GNB1 NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)SNV Likely pathogenic 224713 rs758432471 1:1737952-1737952 1:1806513-1806513
10 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs)short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808

Copy number variations for Hypotonia from CNVD:

7 (show all 11)
# CNVD ID Chromosome 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 PIGN PIGG PIGA
2
Show member pathways
10.41 PIGN PIGG PIGA

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 PIGN PIGG PIGA
2 preassembly of GPI anchor in ER membrane GO:0016254 8.8 PIGN PIGG PIGA

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

# Name GO ID Score Top Affiliating Genes
1 GTPase binding GO:0051020 9.16 IARS1 GNB1
2 cation channel activity GO:0005261 8.96 UNC80 NALCN
3 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGN PIGG

Sources for Hypotonia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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