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MCID: HYP265
MIFTS: 42

Hypotonia

Categories: Muscle diseases, Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypotonia

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MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 53 6

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)


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Summaries for Hypotonia

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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 Propofol and Sevoflurane 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 : 74 Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle),... more...

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Related Diseases for Hypotonia

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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 1348)
# Related Disease Score Top Affiliating Genes
1 multiple congenital anomalies-hypotonia-seizures syndrome 1 32.4 PIGN PIGG PIGA
2 multiple congenital anomalies-hypotonia-seizures syndrome 2 32.4 PIGG PIGA
3 multiple congenital anomalies-hypotonia-seizures syndrome 32.3 PIGN PIGG PIGA
4 neurodevelopmental disorder with hypotonia, seizures, and absent language 32.2 NTNG2 HECW2
5 hypotonia-speech impairment-severe cognitive delay syndrome 32.1 UNC80 NALCN
6 cohen syndrome 32.1 TBCK GNB1 EBF3 DOCK3
7 infantile hypotonia 32.0 UNC80 TBCK NALCN CCDC174
8 hypotonia, infantile, with psychomotor retardation 32.0 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 30.1 TBCK GNB1 EBF3
11 multiple congenital anomalies-hypotonia-seizures syndrome 3 11.4
12 hypotonia-cystinuria syndrome 11.4
13 mitochondrial dna depletion syndrome 7 11.4
14 congenital contractures of the limbs and face, hypotonia, and developmental delay 11.3
15 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 11.3
16 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 11.3
17 hypotonia, ataxia, and delayed development syndrome 11.3
18 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 11.3
19 opitz-kaveggia syndrome 11.3
20 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 11.3
21 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 11.3
22 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 11.3
23 birk-barel syndrome 11.3
24 spastic tetraplegia and axial hypotonia, progressive 11.3
25 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 11.3
26 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 11.3
27 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 11.3
28 allan-herndon-dudley syndrome 11.3
29 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 11.2
30 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 11.2
31 intellectual developmental disorder with hypotonia and behavioral abnormalities 11.2
32 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.2
33 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 11.2
34 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 11.2
35 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 11.2
36 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 11.2
37 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 11.2
38 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 11.2
39 qazi markouizos syndrome 11.2
40 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 11.2
41 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 11.2
42 combined oxidative phosphorylation deficiency 31 11.2
43 mental retardation, autosomal dominant 31 11.2
44 mitochondrial phosphate carrier deficiency 11.2
45 combined oxidative phosphorylation deficiency 18 11.2
46 growth retardation, small and puffy hands and feet, and eczema 11.2
47 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.2
48 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 11.1
49 floppy infant syndrome 11.1
50 combined oxidative phosphorylation deficiency 5 11.1

Graphical network of the top 20 diseases related to Hypotonia:



Diseases related to Hypotonia
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Symptoms & Phenotypes for Hypotonia

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MGI Mouse Phenotypes related to Hypotonia:

46
# 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 9.86 ANKLE2 CCDC174 COX20 EBF3 GNB1 HECW2
3 nervous system MP:0003631 9.36 DOCK3 EBF3 GNB1 INPP4A NALCN PIGA
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Drugs & Therapeutics for Hypotonia

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
5
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
8
Orphenadrine Approved Phase 4 83-98-7 4601
9
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
10
Succinylcholine Approved Phase 4 306-40-1 5314
11
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13 Anticonvulsants Phase 4
14 Bromides Phase 4
15 Anesthetics, General Phase 4
16 Anesthetics, Inhalation Phase 4
17 Platelet Aggregation Inhibitors Phase 4
18 Hypnotics and Sedatives Phase 4
19 Anesthetics, Intravenous Phase 4
20 Cholinergic Agents Phase 4
21 Cholinergic Antagonists Phase 4
22 Neurotransmitter Agents Phase 4
23 Cholinesterase Inhibitors Phase 4
24 Parasympatholytics Phase 4
25 Respiratory System Agents Phase 4
26 Anti-Asthmatic Agents Phase 4
27 Mydriatics Phase 4
28 Muscarinic Antagonists Phase 4
29 Bronchodilator Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Cytochrome P-450 Enzyme Inhibitors Phase 4
32 Acetaminophen, hydrocodone drug combination Phase 4
33 Antiparkinson Agents Phase 4
34 Antipyretics Phase 4
35 Anesthetics Phase 4
36 Neuromuscular Blocking Agents Phase 4
37 Neuromuscular Nondepolarizing Agents Phase 4
38 Anti-Arrhythmia Agents Phase 4
39 Sodium Channel Blockers Phase 4
40 Diuretics, Potassium Sparing Phase 4
41 Anesthetics, Local Phase 4
42
Remifentanil Approved Phase 3 132875-61-7 60815
43 Analgesics Phase 3
44 Narcotics Phase 3
45 Analgesics, Opioid Phase 3
46
Sulfamethoxazole Approved Phase 2 723-46-6 5329
47
Cisatracurium Approved Phase 2 96946-41-7 62887
48 Anti-Infective Agents Phase 2
49
Sodium citrate Approved, Investigational Phase 1 68-04-2
50
Citric acid Approved, Nutraceutical, Vet_approved Phase 1 77-92-9 311

Interventional clinical trials:

(show all 40)
# 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 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
4 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
5 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
6 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)
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 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
11 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
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 PREPL in Health and Disease Unknown status NCT02263781
15 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
16 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
17 Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM) Completed NCT02057705
18 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
19 POPULAR: POst-operative PULmonary Complications After Use of Muscle Relaxants in Europe - A European Prospective Multicenter Observational Study Completed NCT01865513
20 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
21 An Evaluation of the Clinical Efficacy of Massage Therapy in a Multisensory Environment for Residents With Severe and Profound Intellectual Disabilities Completed NCT02120820
22 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium;Rocuronium
23 Efficacy of Intravenous Glyco-P® in Patients Undergoing Procedure That Require Anesthesia Service Completed NCT02102542
24 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
25 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
26 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
27 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
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 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Completed NCT03176069
30 Comparison of Osteopathic Treatment Versus Simulation on Motor Development of Hypotonic Infants. Recruiting NCT03852004
31 Respiratory Benefits of Small Doses Muscle Relaxant in General Anesthesia Recruiting NCT04344262 Atracurium Besylate regular dose;Atracurium Besylate minial dose
32 A Natural History Study of hnRNP-related Disorders Recruiting NCT03492060
33 Effectiveness of Sugammadex on Muscle Relaxant Reversal in Preterm Neonates Recruiting NCT04566796 Sugammadex;Neostigmine
34 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
35 Causes of Peripheral Hypotonia in Children Attending Assiut University Children Hospital Not yet recruiting NCT03857555
36 Effect of Perioperative Muscle Relaxant Model on Postoperative Outcomes in Chinese Patients Not yet recruiting NCT04371588
37 Assessment of Dentist Pharmacist Communication About Usage of Skeletal Muscle Relaxants Survey Among Egyptian Dental Practitioners Not yet recruiting NCT04747743
38 Hypotonia as a Clinical Predictor of Optic Pathway Glioma in Children With Neurofibromatosis Type 1 Terminated NCT02584413 Gadolinium contrast
39 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
40 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

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Genetic Tests for Hypotonia

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Anatomical Context for Hypotonia

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MalaCards organs/tissues related to Hypotonia:

40
Spinal Cord, Skeletal Muscle, Eye, Cerebellum, Cortex, Pituitary, Skin
Sources

Publications for Hypotonia

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Articles related to Hypotonia:

(show top 50) (show all 8123)
# Title Authors PMID Year
1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6 61
27108799 2016
2
MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency. 61
33552330 2021
3
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
4
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
5
Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature. 61
33052056 2021
6
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis. 61
33229101 2021
7
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features. 61
32430360 2021
8
Genetic profile and clinical characteristics of Chinese patients with spinocerebellar ataxia type 2: A multicenter experience over 10 years. 61
33070405 2021
9
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction. 61
33261925 2021
10
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency). 61
33532242 2021
11
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency. 61
33234382 2021
12
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. 61
33106617 2021
13
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. 61
33565190 2021
14
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency. 61
32798077 2021
15
Solitary rectal ulcer syndrome in 102 patients: Do different phenotypes make sense? 61
33199231 2021
16
Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements. 61
32928027 2021
17
Clinical variations of epileptic syndrome associated with PACS2 variant. 61
33243487 2021
18
CTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vítreous: a case report and literature review. 61
33563475 2021
19
Ras/MAPK dysregulation in development causes a skeletal myopathy in an activating BrafL597V mouse model for cardio-facio-cutaneous syndrome. 61
33522658 2021
20
Variability in Cerebral Palsy Diagnosis. 61
33402528 2021
21
Syncope as the only symptom of SARS-CoV-2 infection 61
33582649 2021
22
Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review. 61
33562640 2021
23
Hypophosphatasia mimicking hypoxic-ischaemic encephalopathy: early recognition and management. 61
31969353 2021
24
Validation of a Novel Fecal Incontinence Scale: The Rapid Assessment Fecal Incontinence Score (RAFIS). 61
32301835 2021
25
EIF2AK2-related Neurodevelopmental Disorder With Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Mimics Pelizaeus-Merzbacher Disease. 61
33553620 2021
26
Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants. 61
33131045 2021
27
POLRMT mutations impair mitochondrial transcription causing neurological disease. 61
33602924 2021
28
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. 61
33596411 2021
29
A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease. 61
33490854 2021
30
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. 61
33410539 2021
31
ODLURO syndrome: personal experience and review of the literature. 61
32691224 2021
32
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations. 61
33571694 2021
33
Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report. 61
33557787 2021
34
Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome. 61
33554696 2021
35
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. 61
33553621 2021
36
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder. 61
33164824 2021
37
Endoscopic Transfontanellar Approach of a Cyst Anterior to the Brainstem Crossing the Foramen Magnum-Part I: Failure of Unique Fenestration: 2-Dimensional Operative Video. 61
33223146 2021
38
Expanding the Phenotype, Genotype and Biochemical Knowledge of ALG3-CDG. 61
33583022 2021
39
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. 61
33156547 2021
40
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome. 61
33565750 2021
41
Time for a general approval of growth hormone treatment in adults with Prader-Willi syndrome. 61
33557878 2021
42
A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report. 61
33579342 2021
43
Severe retinal degeneration in a patient with Canavan disease. 61
32975148 2021
44
Expanding the phenotype of X-linked SSR4-CDG: Connective tissue implications. 61
33300232 2021
45
Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome. 61
32991243 2021
46
An X-linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. 61
33131077 2021
47
Variants of SLC18A3 leading to congenital myasthenic syndrome in two children with varying presentations. 61
33462016 2021
48
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance. 61
33531827 2021
49
Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B. 61
33502714 2021
50
A child with Imerslund-Gräsbeck syndrome concealed by co-existing α-thalassaemia presenting with subacute combined degeneration of the spinal cord: a case report. 61
33461510 2021
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Variations for Hypotonia

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ClinVar genetic disease variations for Hypotonia:

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

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Search GEO for disease gene expression data for Hypotonia.
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Pathways for Hypotonia

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Pathways related to Hypotonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Post-translational modification- synthesis of GPI-anchored proteins 65
Show member pathways
 10.92 PIGN PIGG PIGA NTNG2
2
Glycosylphosphatidylinositol (GPI)-anchor biosynthesis 36
Show member pathways
 10.74 PIGN PIGG PIGA
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GO Terms for Hypotonia

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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 8.96 IARS1 GNB1
2 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGN PIGG
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Sources for Hypotonia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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