Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 53 6


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 multiple congenital anomalies-hypotonia-seizures syndrome 1 and multiple congenital anomalies-hypotonia-seizures syndrome 2. An important gene associated with Hypotonia is ANKLE2 (Ankyrin Repeat And LEM Domain Containing 2), and among its related pathways/superpathways are Post-translational modification- synthesis of GPI-anchored proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The drugs Succinylcholine and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skeletal muscle and eye, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 73 Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle),... 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 1374)
# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 1 32.6 PIGT PIGN
2 multiple congenital anomalies-hypotonia-seizures syndrome 2 32.5 PIGT PIGA
3 multiple congenital anomalies-hypotonia-seizures syndrome 32.5 PIGT PIGN PIGA
4 neurodevelopmental disorder with hypotonia, seizures, and absent language 32.3 NTNG2 HECW2
5 hypotonia-speech impairment-severe cognitive delay syndrome 32.1 UNC80 NALCN
6 infantile hypotonia 32.1 UNC80 TBCK NALCN CCDC174
7 cohen syndrome 32.1 TBCK GNB1 EBF3 DOCK3
8 hypotonia, infantile, with psychomotor retardation 32.1 UNC80 TBCK NALCN CCDC174
9 alacrima, achalasia, and mental retardation syndrome 30.2 TBCK PURA INPP4A GNB1 EBF3 ANKLE2
10 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 30.2 TBCK GNB1 EBF3
11 acid-labile subunit deficiency 29.3 GNB1 EBF3
12 disease of mental health 28.1 UNC80 TBCK PURA NTNG2 NALCN INPP4A
13 multiple congenital anomalies-hypotonia-seizures syndrome 3 11.4
14 hypotonia-cystinuria syndrome 11.4
15 mitochondrial dna depletion syndrome 7 11.4
16 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.4
17 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.3
18 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.3
19 hypotonia, ataxia, and delayed development syndrome 11.3
20 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.3
21 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 11.3
22 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 11.3
23 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.3
24 birk-barel syndrome 11.3
25 spastic tetraplegia and axial hypotonia, progressive 11.3
26 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.3
27 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 11.3
28 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 11.3
29 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 11.3
30 allan-herndon-dudley syndrome 11.3
31 opitz-kaveggia syndrome 11.3
32 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.2
33 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 11.2
34 intellectual developmental disorder with hypotonia and behavioral abnormalities 11.2
35 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.2
36 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 11.2
37 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.2
38 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 11.2
39 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 11.2
40 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 11.2
41 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 11.2
42 qazi markouizos syndrome 11.2
43 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 11.2
44 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 11.2
45 combined oxidative phosphorylation deficiency 31 11.2
46 mental retardation, autosomal dominant 31 11.2
47 mitochondrial phosphate carrier deficiency 11.2
48 combined oxidative phosphorylation deficiency 18 11.2
49 growth retardation, small and puffy hands and feet, and eczema 11.2
50 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 11.1

Graphical network of the top 20 diseases related to Hypotonia:

Diseases related to Hypotonia

Symptoms & Phenotypes for Hypotonia

MGI Mouse Phenotypes related to Hypotonia:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.93 CCDC174 GNB1 INPP4A NALCN PIGA PIGN
2 mortality/aging MP:0010768 9.89 ANKLE2 CCDC174 COX20 EBF3 GNB1 HECW2
3 nervous system MP:0003631 9.36 DOCK3 EBF3 GNB1 INPP4A NALCN PIGA

Drugs & Therapeutics for Hypotonia

Drugs for Hypotonia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 73)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Succinylcholine Approved Phase 4 306-40-1 5314
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
Acetaminophen Approved Phase 4 103-90-2 1983
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
Orphenadrine Approved Phase 4 83-98-7 4601
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
9 Anesthetics, Inhalation Phase 4
10 Platelet Aggregation Inhibitors Phase 4
11 Neuromuscular Nondepolarizing Agents Phase 4
12 Sodium Channel Blockers Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Anesthetics, Local Phase 4
15 Anticonvulsants Phase 4
16 Bromides Phase 4
17 Anesthetics Phase 4
18 Narcotics Phase 4
19 Analgesics Phase 4
20 Analgesics, Opioid Phase 4
21 Neuromuscular Blocking Agents Phase 4
22 Neurotransmitter Agents Phase 4
23 Cholinergic Agents Phase 4
24 Cholinesterase Inhibitors Phase 4
25 Anti-Arrhythmia Agents Phase 4
26 Cholinergic Antagonists Phase 4
27 Parasympatholytics Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Respiratory System Agents Phase 4
30 Mydriatics Phase 4
31 Muscarinic Antagonists Phase 4
32 Bronchodilator Agents Phase 4
33 Analgesics, Non-Narcotic Phase 4
34 Acetaminophen, hydrocodone drug combination Phase 4
35 Cytochrome P-450 Enzyme Inhibitors Phase 4
36 Antipyretics Phase 4
37 Antiparkinson Agents Phase 4
Remifentanil Approved Phase 3 132875-61-7 60815
Sulfamethoxazole Approved Phase 2 723-46-6 5329
Cisatracurium Approved Phase 2 96946-41-7 62887
41 Anti-Infective Agents Phase 2
Sodium citrate Approved, Investigational Phase 1 68-04-2
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
Ornithine Approved, Nutraceutical Phase 1 70-26-8, 3184-13-2 6262
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311
Glutamic acid Approved, Nutraceutical Phase 1 56-86-0 33032
47 Citrate Phase 1
48 Anticoagulants Phase 1
49 Chelating Agents Phase 1
50 glutamine Phase 1

Interventional clinical trials:

(show all 41)
# Name Status NCT ID Phase Drugs
1 Comparison of Two Induction Regimens Using Topical Lidocaine or Muscle Relaxant; Impact on Postoperative Sore Throat and Haemodynamics Unknown status NCT03031808 Phase 4 Lidocaine spray (2%);Muscle Relaxant (Rocuronium)
2 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
3 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
4 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
5 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
6 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
7 Requirement of Skeletal Muscle Paralysis in Hypothermic Patients After Cardiac Arrest - a Pilot Study Completed NCT01719770 Phase 3 rocuronium
8 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
9 Sulfamethoxazole for the Treatment of Primary PREPL Deficiency (In Dutch: Sulfamethoxazole Ter Behandeling Van Primaire PREPL deficiëntie) Unknown status NCT02640443 Phase 2 Sulfamethoxazole
10 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
11 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
12 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
13 Comparison of Intubating Condition of the Mcgrath Videolaryngoscope With and Without Muscle Relaxant Completed NCT02575716 Phase 1
14 Causes of Peripheral Hypotonia in Children Attending Assiut University Children Hospital Unknown status NCT03857555
15 PREPL in Health and Disease Unknown status NCT02263781
16 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
17 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
18 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
19 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
20 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
21 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
22 POPULAR: POst-operative PULmonary Complications After Use of Muscle Relaxants in Europe - A European Prospective Multicenter Observational Study Completed NCT01865513
23 Evaluation of the Effectiveness and Safety of Endotracheal Intubation for Inhalational Anesthesia Without the Use of Muscle Relaxants or Analgesics Completed NCT03112564 Sevoflurane 8% + Intravenous fentanyl
24 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium;Rocuronium
25 Comparison of the Clinical Performances of Flexible Laryngeal Mask Airway in Pediatric Patients Under General Anesthesia With or Without Muscle Relaxant: a Randomized Controlled Non-inferiority Trial Completed NCT03487003 rocuronium;saline
26 Efficacy of Intravenous Glyco-P® in Patients Undergoing Procedure That Require Anesthesia Service Completed NCT02102542
27 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
28 A Prospective, Randomized, Multicenter, Self-controlled, Blinded Trial on the Efficacy and Safety of Poly-L-lactic Acid - SCULPTRA - for the Treatment of Corporal Skin Flaccidity. Completed NCT03225066
29 Using Fentanyl and Propofol for Tracheal Intubation During Sevoflurane Induction Without Muscle Relaxants in Children: a Randomized Prospective Study Completed NCT02442128 propofol /Fentanyl;Fentanyl / propofol
30 An Evaluation of the Clinical Efficacy of Massage Therapy in a Multisensory Environment for Residents With Severe and Profound Intellectual Disabilities Completed NCT02120820
31 Comparison of Osteopathic Treatment Versus Simulation on Motor Development of Hypotonic Infants. Recruiting NCT03852004
32 Effectiveness of Sugammadex on Muscle Relaxant Reversal in Preterm Neonates Recruiting NCT04566796 Sugammadex;Neostigmine
33 A Natural History Study of hnRNP-related Disorders Recruiting NCT03492060
34 Respiratory Benefits of Small Doses Muscle Relaxant in General Anesthesia Recruiting NCT04344262 Atracurium Besylate regular dose;Atracurium Besylate minial dose
35 Neonatal Hypotonia Associated With in Utero Exposure to Antidepressant-Analysis of Two Pharmacovigilance Databases Active, not recruiting NCT04830241 Antidepressant
36 Addition of Muscle Relaxants in a Multimodal Analgesic Regimen for Analgesia After Primary Total Knee Arthroplasty Enrolling by invitation NCT04574791 TiZANidine 2 MG Oral Capsule
37 Assessment of Dentist Pharmacist Communication About Usage of Skeletal Muscle Relaxants Survey Among Egyptian Dental Practitioners Not yet recruiting NCT04747743
38 Effect of Perioperative Muscle Relaxant Model on Postoperative Outcomes in Chinese Patients Not yet recruiting NCT04371588
39 Hypotonia as a Clinical Predictor of Optic Pathway Glioma in Children With Neurofibromatosis Type 1 Terminated NCT02584413 Gadolinium contrast
40 Difference of Muscle Power and Myokine Profile After Upper Limb or Lower Limb Electric Muscle Stimulation in Patients With Severe Sepsis and Acute Respiratory Failure Terminated NCT01895647
41 The Dose-response Relationship of Rocuronium in Patients Taking Pyridostigmine Preoperatively Compared With Age and Sex Matched Controls Withdrawn NCT02157545

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

Spinal Cord, Skeletal Muscle, Eye, Cerebellum, Cortex, Pituitary, Skin

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 8215)
# Title Authors PMID Year
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6 61
27108799 2016
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases. 61
33763332 2021
A case report of Joubert syndrome with renal involvement and seizures in a neonate. 61
33717386 2021
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study. 61
33427397 2021
Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck. 61
33244741 2021
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. 61
33775046 2021
MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. 61
33552330 2021
Compound heterozygous variants in GOSR2 associated with congenital muscular dystrophy: A case report. 61
33639315 2021
Neurobehaviour of very preterm infants at term equivalent age is related to early childhood outcomes. 61
32985000 2021
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. 61
33439489 2021
Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 61
33463720 2021
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder. 61
33231275 2021
Congenital myasthenic syndrome in Turkey: clinical and genetic features in the long-term follow-up of patients. 61
31773638 2021
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. 61
32439809 2021
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. 61
33381903 2021
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia. 61
33443317 2021
A Description of Novel Variants and Review of Phenotypic Spectrum in UBA5-related Early Epileptic Encephalopathy. 61
33811063 2021
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. 61
33571694 2021
Outcomes of Adenotonsillectomy for Obstructive Sleep Apnea in Prader-Willi Syndrome: Systematic Review and Meta-analysis. 61
33026674 2021
Role of Body Cast Application for Scoliosis Associated With Prader-Willi Syndrome. 61
33122491 2021
Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome. 61
33393407 2021
Novel HEXA variants in Korean children with Tay-Sachs disease with regression of neurodevelopment from infancy. 61
33811753 2021
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. 61
33743206 2021
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 61
32524247 2021
ADSL Deficiency - The Lesser-Known Metabolic Epilepsy in Infancy. 61
32681428 2021
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency. 61
33648541 2021
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation. 61
33376055 2021
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. 61
32439808 2021
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. 61
33168986 2021
Early Neurodevelopmental Outcome of Neonates with Gestation 35 Weeks or More with Serum Bilirubin in Exchange Range Without Encephalopathy: A Prospective Observational Study. 61
33731372 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency). 61
33532242 2021
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. 61
33234382 2021
Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency. 61
33650027 2021
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. 61
33261925 2021
Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. 61
33789861 2021
Case 2: Hypotonia and Poor Feeding in a Neonate. 61
33649092 2021
Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. 61
33728243 2021
Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features. 61
33812062 2021
Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum. 61
33772159 2021
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. 61
33801522 2021
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. 61
33783914 2021
A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. 61
32383294 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. 61
33751773 2021
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. 61
33712684 2021
[Treatment of vascularized high-risk eyes with a Boston keratoprosthesis]. 61
33730307 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. 61
33596411 2021
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. 61
33733462 2021
Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis. 61
33644825 2021
UPD(14)mat and UPD(14)mat in concomitance with mosaic small supernumerary marker chromosome 14 in two new patients with Temple syndrome. 61
33746039 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. 61
33704440 2021

Variations for Hypotonia

ClinVar genetic disease variations for Hypotonia:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ANKLE2 NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter) SNV Pathogenic 930179 GRCh37: 12:133310992-133310992
GRCh38: 12:132734406-132734406
2 GNB1 NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) SNV Likely pathogenic 224715 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
3 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Likely pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
4 GNB1 NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) SNV Likely pathogenic 224713 rs758432471 GRCh37: 1:1737952-1737952
GRCh38: 1:1806513-1806513
5 GNB1 NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) SNV Likely pathogenic 224714 rs869312823 GRCh37: 1:1737948-1737948
GRCh38: 1:1806509-1806509
6 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Likely pathogenic 208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
7 GNB1 NM_002074.5(GNB1):c.301A>G (p.Met101Val) SNV Likely pathogenic 224717 rs869312825 GRCh37: 1:1735987-1735987
GRCh38: 1:1804548-1804548
8 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs) Microsatellite Likely pathogenic 804386 rs1574965220 GRCh37: 2:99152270-99152271
GRCh38: 2:98535807-98535808
9 GNB1 NM_002074.5(GNB1):c.227A>G (p.Asp76Gly) SNV Likely pathogenic 224711 rs869312821 GRCh37: 1:1737954-1737954
GRCh38: 1:1806515-1806515
10 GNB1 NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) SNV Likely pathogenic 224718 rs869312826 GRCh37: 1:1718817-1718817
GRCh38: 1:1787378-1787378
11 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) SNV Likely pathogenic 224712 rs869312822 GRCh37: 1:1737953-1737953
GRCh38: 1:1806514-1806514

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 CAMKMT 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 NIBAN2 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
Show member pathways
Show member pathways

GO Terms for Hypotonia

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

# Name GO ID Score Top Affiliating Genes
1 preassembly of GPI anchor in ER membrane GO:0016254 8.96 PIGN PIGA
2 GPI anchor biosynthetic process GO:0006506 8.8 PIGT PIGN PIGA

Sources for Hypotonia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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