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MCID: HYP265
MIFTS: 43

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 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 Acetaminophen and Hydromorphone have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are mortality/aging and nervous system

Wikipedia : 74 Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension... 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 1287)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 34.2 UNC80 NALCN
2 multiple congenital anomalies-hypotonia-seizures syndrome 1 33.9 PIGN PIGG
3 multiple congenital anomalies-hypotonia-seizures syndrome 33.9 PIGN PIGG PIGA
4 hypotonia, infantile, with psychomotor retardation 33.8 UNC80 TBCK NALCN CCDC174
5 infantile hypotonia 33.3 UNC80 TBCK NALCN MECP2 CCDC174
6 baker-gordon syndrome 32.7 TBCK NTNG2 EBF3
7 myasthenic syndrome, congenital, 22 31.9 PREPL CAMKMT
8 alacrima, achalasia, and mental retardation syndrome 31.6 PURA MECP2 GNB1 EBF3
9 visual epilepsy 30.4 TBCK PURA NALCN MECP2 GNB1
10 west syndrome 29.6 PIGA MECP2 GNB1
11 dystonia 29.4 PURA NALCN MECP2 GNB1 COX20
12 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.6
13 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
14 hypotonia-cystinuria syndrome 12.5
15 congenital contractures of the limbs and face, hypotonia, and developmental delay 12.5
16 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.5
17 hypotonia, infantile, with psychomotor retardation and characteristic facies 2 12.5
18 hypotonia, infantile, with psychomotor retardation and characteristic facies 3 12.5
19 neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities 12.4
20 neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia 12.4
21 neurodevelopmental disorder with hypotonia, seizures, and absent language 12.4
22 neurodevelopmental disorder with ataxia, hypotonia, and microcephaly 12.4
23 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.4
24 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 12.4
25 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 12.4
26 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 12.4
27 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.4
28 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 12.4
29 hypotonia, ataxia, and delayed development syndrome 12.4
30 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.4
31 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 12.4
32 spastic tetraplegia and axial hypotonia, progressive 12.3
33 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 12.3
34 puerto rican infant hypotonia syndrome 12.3
35 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 12.3
36 intellectual developmental disorder with hypotonia and behavioral abnormalities 12.3
37 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
38 neurodevelopmental disorder with hypotonia and impaired expressive language and with or without seizures 12.3
39 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 12.3
40 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 12.3
41 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.2
42 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.2
43 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.2
44 hypotonia, seizures, and precocious puberty 12.2
45 cohen syndrome 12.1
46 coarse face hypotonia constipation 12.0
47 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.0
48 hypotonia-cystinuria type 1 syndrome 12.0
49 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 12.0
50 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.0

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 CCDC174 COX20 EBF3 GNB1 HECW2 MECP2
2 nervous system MP:0003631 9.32 DOCK3 EBF3 GNB1 MECP2 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 157)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetaminophen Approved Phase 4 103-90-2 1983
2
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
3
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
4
Orphenadrine Approved Phase 4 83-98-7 4601
5
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
6
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
7
Succinylcholine Approved Phase 4 306-40-1 5314
8
Memantine Approved, Investigational Phase 4 19982-08-2 4054
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12 Anticonvulsants Phase 4
13 Bromides Phase 4
14 Platelet Aggregation Inhibitors Phase 4
15 Anesthetics, Inhalation Phase 4
16 Cholinergic Agents Phase 4
17 Mydriatics Phase 4
18 Muscarinic Antagonists Phase 4
19 Cholinergic Antagonists Phase 4
20 Neurotransmitter Agents Phase 4
21 Analgesics, Non-Narcotic Phase 4
22 Cytochrome P-450 Enzyme Inhibitors Phase 4
23 Acetaminophen, hydrocodone drug combination Phase 4
24 Parasympatholytics Phase 4
25 Antiparkinson Agents Phase 4
26 Antipyretics Phase 4
27 Respiratory System Agents Phase 4
28 Anti-Asthmatic Agents Phase 4
29 Bronchodilator Agents Phase 4
30 Cholinesterase Inhibitors Phase 4
31 Excitatory Amino Acid Antagonists Phase 4
32 Dopamine Agents Phase 4
33 Fat Emulsions, Intravenous Phase 4
34 Soy Bean Phase 4
35 Anesthetics Phase 4
36 Neuromuscular Blocking Agents Phase 4
37 Anti-Arrhythmia Agents Phase 4
38 Sodium Channel Blockers Phase 4
39 Diuretics, Potassium Sparing Phase 4
40 Anesthetics, Local Phase 4
41 Hormones Phase 4
42 Hormone Antagonists Phase 4
43 Insulin, Globin Zinc Phase 4
44 Mitogens Phase 4
45 insulin Phase 4
46
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
47
Clobazam Approved, Illicit Phase 3 22316-47-8 2789
48
Remifentanil Approved Phase 3 132875-61-7 60815
49
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
50
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605

Interventional clinical trials:

(show top 50) (show all 110)
# 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 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
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 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 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
6 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
7 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 ®
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 An Open Label Trial of Growth Hormone in Children and Adolescents With Phelan-McDermid Syndrome Targeting Social Withdrawal Completed NCT04003207 Phase 2 Recombinant human Growth hormone
24 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
25 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
26 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
27 Effects of Photobiomodulation in Children With Down Syndrome and Possible Sleep Bruxism: Protocol For A Randomized, Controlled, Blind, Clinical Trial Not yet recruiting NCT04211870 Phase 1, Phase 2
28 Comparison of Intubating Condition of the Mcgrath Videolaryngoscope With and Without Muscle Relaxant Completed NCT02575716 Phase 1
29 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
30 PREPL in Health and Disease Unknown status NCT02263781
31 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
32 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
33 Risk Factors For Postoperative Respiratory Complications After Anesthesia Unknown status NCT01871051
34 Effects of Transcranial Direct Current Stimulation (tDCS) on Obsessive Compulsive Behavior and Depressive Symptoms on Individuals With Prader-Willi Syndrome Unknown status NCT03324906
35 Application of Diffusion Tensor Imaging and Tractography in Pediatric Tumor Surgery Unknown status NCT02810626
36 Family-based Exercise Intervention for Children and Adolescents With Prader-Willi Syndrome Unknown status NCT02058342
37 Hammock Positioning's Influence on the Electromyographic Activity in the Flexor Muscles in Newborn Preterm Unknown status NCT02621996
38 Post Exercise Irisin Levels in PWS Patients Unknown status NCT02728544
39 Incidence of Renal Tubular Acidosis in Nephrology Unit in Assiut University Childern Hospital (AUCH) Unknown status NCT03268460
40 A Randomized Double Blind Placebo Controlled Cross-over Trial of Baclofen and Diazepam Suppositories for the Management of Pelvic Floor Myalgia Unknown status NCT03427216 Baclofen/diazepam;Vaginal placebo
41 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
42 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
43 Efficiency and Safety of Phenylephrine and Tropicamide Used in Premature Retinopathy Completed NCT03448640 Drug used in the examination of premature infants.
44 Laryngeal Injuries After Anesthesia Induction With Three Different Sevoflurane Concentrations (Without Muscle Relaxant) Completed NCT01896245 sevoflurane 1,0;sevoflurane 1,2;sevoflurane 1,4
45 Evaluation of the Muscle Strength and Motor Ability in Children With Spinal Muscle Atrophy Type II and III Treated With Valproic Acid Completed NCT01033331
46 Safety Control Study in Pediatric Inguinal Hernia Repair: Are Muscle Relaxants Necessary? Endotracheal Intubation vs Laryngeal Mask Airway Completed NCT02696837 Rocuronium;Rocuronium
47 A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2) Completed NCT03701568 dC/dT
48 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
49 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
50 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

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

Publications for Hypotonia

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Articles related to Hypotonia:

(show top 50) (show all 7791)
# Title Authors PMID Year
1
A de novo CACNA1D missense mutation in a patient with congenital hyperinsulinism, primary hyperaldosteronism and hypotonia. 61
32336187 2020
2
Case of 15q26-qter deletion associated with a Prader-Willi phenotype. 61
32473228 2020
3
Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan. 61
32336483 2020
4
Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches. 61
32142633 2020
5
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome. 61
31862401 2020
6
Phenotype and growth in Sotos syndrome patient from DR Congo (Central Africa). 61
32406590 2020
7
Study of abdominal wall muscle innervation applied to large-defect closure in congenital diaphragmatic hernia. 61
31625184 2020
8
Polyhydramnios and abnormal foetal heart rate patterns in a foetus with Prader-Willi syndrome: A case report. 61
32528861 2020
9
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation. 61
32167997 2020
10
Testicular function in boys with 47,XYY and relationship to phenotype. 61
32544298 2020
11
A Child With Self-Improving Hypotonia: Look at the Skin! 61
32511961 2020
12
Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution. 61
32537635 2020
13
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus. 61
32099069 2020
14
yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. 61
32544203 2020
15
A novel mutation in the ZNF462 gene c.3306dup; p.(Gln1103Thrfs*10) is associated to Weiss-Kruszka syndrome. A case report. 61
32543299 2020
16
Neurophysiological mechanisms of hypertonia and hypotonia in children with spastic cerebral palsy: surgical implications. 61
32548670 2020
17
[The phenotypes and genotypes in 314 patients with isolated methylmalonic acidemia]. 61
32521958 2020
18
Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders. 61
32524419 2020
19
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 2020
20
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2. 61
32498638 2020
21
[Kagami-Ogata Syndrome: An Anomaly of the Ribs as a Pathognomonic Feature for the Clinical Diagnosis of an (epi)Genetic Syndrome]. 61
31853915 2020
22
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. 61
31953991 2020
23
A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin. 61
32240827 2020
24
Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand. 61
32525229 2020
25
Children with Down syndrome and mild OSA: treatment with medication versus observation. 61
32043964 2020
26
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 61
32275123 2020
27
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia. 61
32198973 2020
28
Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease. 61
32341817 2020
29
Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila. 61
32461240 2020
30
Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles. 61
32522805 2020
31
Lessons learned from 40 novel PIGA patients and a review of the literature. 61
32452540 2020
32
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome. 61
32209270 2020
33
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions. 61
32184166 2020
34
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. 61
32232962 2020
35
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
36
Utility of metabolic screening in neurological presentations of infancy. 61
32495504 2020
37
1p31.1 microdeletion including only NEGR1 gene in two patients. 61
32209393 2020
38
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. 61
32553196 2020
39
Non-primary CMV infection not always innocent. A case-report and literature review. 61
32491959 2020
40
Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report. 61
32517662 2020
41
Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay. 61
32338762 2020
42
First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC. 61
32516863 2020
43
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. 61
32198969 2020
44
Unique retinal signaling defect in GNB5-related disease. 61
31720979 2020
45
Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency. 61
31935764 2020
46
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant. 61
32444167 2020
47
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12. 61
32524056 2020
48
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. 61
32356556 2020
49
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2020
50
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. 61
32488727 2020
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Variations for Hypotonia

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

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
Sources

Expression for Hypotonia

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Search GEO for disease gene expression data for Hypotonia.
Sources

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
Sources

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 mannose-ethanolamine phosphotransferase activity GO:0051377 8.62 PIGN PIGG
Sources

Sources for Hypotonia

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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
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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