MCID: HYP265
MIFTS: 43

Hypotonia

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Hypotonia

MalaCards integrated aliases for Hypotonia:

Name: Hypotonia 54 6

Classifications:



Summaries for Hypotonia

NINDS : 54 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. An important gene associated with Hypotonia is GNB1 (G Protein Subunit Beta 1), and among its related pathways/superpathways are SMAD Signaling Network and Transcription_P53 signaling pathway. The drugs Rocuronium and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skeletal muscle.

Wikipedia : 75 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 1236)
# Related Disease Score Top Affiliating Genes
1 hypotonia-speech impairment-severe cognitive delay syndrome 34.4 UNC80 NALCN
2 multiple congenital anomalies-hypotonia-seizures syndrome 34.3 PIGN PIGA
3 infantile hypotonia 34.0 UNC80 NALCN CCDC174
4 hypotonia, infantile, with psychomotor retardation 33.9 UNC80 TBCK NALCN CCDC174
5 alacrima, achalasia, and mental retardation syndrome 31.5 PURA GNB1 EBF3 AHDC1
6 cerebral palsy, ataxic, autosomal recessive 30.4 UBE3A CTBP1
7 visual epilepsy 30.3 UBE3A TBCK PURA NALCN GNB1
8 multiple congenital anomalies-hypotonia-seizures syndrome 2 12.6
9 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.6
10 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.5
11 hypotonia-cystinuria syndrome 12.5
12 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 12.5
13 congenital contractures of the limbs and face, hypotonia, and developmental delay 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 12.5
17 neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia 12.4
18 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 12.4
19 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 12.4
20 growth retardation, impaired intellectual development, hypotonia, and hepatopathy 12.4
21 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 12.4
22 hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 12.4
23 hypotonia, ataxia, and delayed development syndrome 12.4
24 puerto rican infant hypotonia syndrome 12.3
25 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 12.3
26 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 12.3
27 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.2
28 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses 12.2
29 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.2
30 hypotonia, seizures, and precocious puberty 12.2
31 cohen syndrome 12.0
32 coarse face hypotonia constipation 12.0
33 hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response 12.0
34 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 12.0
35 obsolete: intellectual disability-hypotonia-skin hyperpigmentation syndrome 12.0
36 hypotonia-cystinuria type 1 syndrome 12.0
37 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 12.0
38 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome 12.0
39 opitz-kaveggia syndrome 12.0
40 allan-herndon-dudley syndrome 12.0
41 mitochondrial dna depletion syndrome 7 11.9
42 qazi markouizos syndrome 11.9
43 mental retardation, autosomal dominant 31 11.9
44 5q31.3 microdeletion syndrome 11.8
45 carey-fineman-ziter syndrome 11.8
46 lubs x-linked mental retardation syndrome 11.8
47 birk-barel syndrome 11.7
48 unc80 deficiency 11.7
49 combined oxidative phosphorylation deficiency 31 11.7
50 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 11.7

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 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Orphenadrine Approved Phase 4 83-98-7 4601
4
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
5
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
6
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
7
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
8
Succinylcholine Approved Phase 4 306-40-1 5314
9
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
10
Memantine Approved, Investigational Phase 4 19982-08-2 4054
11
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
12 Bromides Phase 4
13 Neuromuscular Nondepolarizing Agents Phase 4
14 Neuromuscular Agents Phase 4
15 Peripheral Nervous System Agents Phase 4
16 Neuromuscular Blocking Agents Phase 4
17 Neurotransmitter Agents Phase 4
18 Cholinesterase Inhibitors Phase 4
19 Cholinergic Agents Phase 4
20 Muscarinic Antagonists Phase 4
21 Mydriatics Phase 4
22 Cholinergic Antagonists Phase 4
23 Parasympatholytics Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Acetaminophen, hydrocodone drug combination Phase 4
26 Cytochrome P-450 Enzyme Inhibitors Phase 4
27 Antiparkinson Agents Phase 4
28 Antipyretics Phase 4
29 Respiratory System Agents Phase 4
30 Anti-Asthmatic Agents Phase 4
31 Bronchodilator Agents Phase 4
32 Neuromuscular Depolarizing Agents Phase 4
33 Dopamine Agents Phase 4
34 Excitatory Amino Acid Antagonists Phase 4
35 Excitatory Amino Acids Phase 4
36 Pharmaceutical Solutions Phase 4
37 Fat Emulsions, Intravenous Phase 4
38 Parenteral Nutrition Solutions Phase 4
39 Soy Bean 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 insulin Phase 4
45 Mitogens Phase 4
46 Insulin, Globin Zinc 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 38916-34-6, 51110-01-1 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 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 Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target Not yet recruiting NCT03831425 Phase 3
16 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 Not yet recruiting NCT03960801 Phase 3 Remifentanil group;neuromuscular blockade group
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 Thyroid Hormone Analog Therapy of Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial. Completed NCT02060474 Phase 2 Triac
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 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 Effects of the Thyroid Hormone Analog Triac on the Neurocognitive Phenotype in Patients With Severe Psychomotor Retardation Caused by Mutations in the MCT8 Thyroid Hormone Transporter: The Triac Trial II Not yet recruiting NCT02396459 Phase 2 Triac
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 Interaction of Statins and Nondepolarizing Muscle Relaxants Unknown status NCT02222519 Rocuronium
31 PREPL in Health and Disease Unknown status NCT02263781
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 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 Evaluation and Comparison of Women Pelvic Floor With and Without Sexual Dysfunction (Vaginismus) Unknown status NCT03176069
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 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
41 Clinical, Molecular and Physiopathological Study of Cohen Syndrome and Cohen-like Syndromes Completed NCT01907555
42 Mapping Human Muscle Satellite Cell Fate By Real-Time Completed NCT02685319
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 Efficiency and Safety of Phenylephrine and Tropicamide Used in Premature Retinopathy Completed NCT03448640 Drug used in the examination of premature infants.
45 A RETROspective Study of the Combination of Pyrimidine Nucleos(t)Ides in Patients With Thymidine Kinase 2 Deficiency (TK2) Completed NCT03701568 dC/dT
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 BIOtinidase Test In Optic-Neuropathy Completed NCT03268681
49 Role of Sleep Apnea in the Neuropsychological Function in Down Syndrome People Completed NCT03267602
50 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

Search NIH Clinical Center for Hypotonia

Genetic Tests for Hypotonia

Anatomical Context for Hypotonia

MalaCards organs/tissues related to Hypotonia:

41
Brain, Spinal Cord, Skeletal Muscle, Heart, Testes, Eye, Liver

Publications for Hypotonia

Articles related to Hypotonia:

(show top 50) (show all 7399)
# Title Authors PMID Year
1
Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index. 38
31313492 2019
2
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency. 38
31406627 2019
3
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. 38
31241255 2019
4
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. 38
31053780 2019
5
Expanding the phenotype of intellectual disability caused by HIVEP2 variants. 38
31207095 2019
6
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. 38
31271740 2019
7
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. 38
30327447 2019
8
Neurologic Examination Findings Associated With Small Cerebellar Volumes After Prematurity. 38
31111765 2019
9
Atypical Prader-Willi and 15q13.3 Microdeletion Syndromes in a Patient with an Unbalanced Translocation. 38
31394532 2019
10
Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. 38
31410843 2019
11
The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B. 38
30912297 2019
12
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. 38
31226715 2019
13
Nonketotic Hyperglycinemia: Two Case Reports and Review. 38
31433733 2019
14
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. 38
31155743 2019
15
Infantile-onset Pompe disease: Diagnosis and management. 38
31339275 2019
16
Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. 38
31108048 2019
17
De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome. 38
31171569 2019
18
Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome. 38
31376231 2019
19
Imaging findings of Menkes disease, a radiographic mimic of abusive trauma. 38
31198482 2019
20
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion). 38
31250568 2019
21
Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia. 38
30607023 2019
22
Variants in DOCK3 cause developmental delay and hypotonia. 38
30976111 2019
23
A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity. 38
31041561 2019
24
[Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene]. 38
30338343 2019
25
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome. 38
31145527 2019
26
Body composition in patients with congenital myotonic dystrophy. 38
31074869 2019
27
Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future. 38
31405045 2019
28
Pure hypotonia in a four-year-old patient: An atypical presentation of Dopa-responsive dystonia. 38
31279255 2019
29
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. 38
31231989 2019
30
Anesthetic management of a child with congenital Steiner syndrome scheduled for laparoscopic bilateral orchidopexy. 38
31027758 2019
31
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review. 38
30928302 2019
32
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. 38
31353023 2019
33
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. 38
31264822 2019
34
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. 38
31409833 2019
35
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants. 38
31167805 2019
36
Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene. 38
31415821 2019
37
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 38
31353022 2019
38
POGZ-related epilepsy: Case report and review of the literature. 38
31136090 2019
39
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. 38
30679821 2019
40
Expression and Functional Characterization of Missense Mutations in ATP8A2 Linked to Severe Neurological Disorders. 38
31397519 2019
41
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. 38
31403263 2019
42
[Serious neurological compromise due to vitamin B12 deficiency in infants of vegan and vegetarian mothers]. 38
31339288 2019
43
Muscarinic inhibition of hypoglossal motoneurons: possible implications for upper airway muscle hypotonia during REM sleep. 38
31420456 2019
44
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features. 38
31372774 2019
45
[Nemaline rod myopathy treated with L-tyrosine to relieve symptoms in a neonate]. 38
31339280 2019
46
Starting to Talk at Age 10 Years: Lessons About the Acquisition of English Speech Sounds in a Rare Case of Severe Congenital But Remediated Motor Disease of Genetic Origin. 38
31298943 2019
47
Phenotype delineation of ZNF462 related syndrome. 38
31361404 2019
48
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 38
31325031 2019
49
Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction. 38
31343737 2019
50
Van der Woude Syndrome With a Novel Mutation in the IRF6 Gene. 38
31299817 2019

Variations for Hypotonia

ClinVar genetic disease variations for Hypotonia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNB1 NM_002074.5(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
2 GNB1 NM_002074.5(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 1:1737948-1737948 1:1806509-1806509
3 GNB1 NM_002074.5(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic/Likely pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
4 GNB1 NM_002074.5(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs869312821 1:1737954-1737954 1:1806515-1806515
5 GNB1 NM_002074.5(GNB1): c.228T> G (p.Asp76Glu) single nucleotide variant Pathogenic/Likely pathogenic rs869312822 1:1737953-1737953 1:1806514-1806514
6 GNB1 NM_002074.5(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 1:1736004-1736004 1:1804565-1804565
7 GNB1 NM_002074.5(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 1:1735987-1735987 1:1804548-1804548
8 GNB1 NM_002074.5(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic/Likely pathogenic rs869312826 1:1718817-1718817 1:1787378-1787378
9 GNB1 NM_002074.5(GNB1): c.229G> A (p.Gly77Ser) single nucleotide variant Likely pathogenic rs758432471 1:1737952-1737952 1:1806513-1806513

Copy number variations for Hypotonia from CNVD:

7 (show all 11)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 43873 10 50265332 50721613 Duplication Hypotonia
2 101485 16 3862993 3941884 Deletion Hypotonia
3 112786 17 41062469 41719833 Deletion Hypotonia
4 145629 2 41600000 47600000 Deletion C2orf34 Hypotonia
5 145630 2 41600000 47600000 Deletion PPM1B Hypotonia
6 145631 2 41600000 47600000 Deletion PREPL Hypotonia
7 145633 2 41600000 47600000 Deletion SLC3A1 Hypotonia
8 204535 6 111807663 121697293 Deletion Hypotonia
9 247215 9 129375646 129461836 Deletion FAM129B Hypotonia
10 247220 9 129375646 129461836 Deletion STXBP1 Hypotonia
11 260226 X 146900000 154913754 Duplication MECP2 Hypotonia

Expression for Hypotonia

Search GEO for disease gene expression data for Hypotonia.

Pathways for Hypotonia

Pathways related to Hypotonia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 UBE3A HECW2 CTBP1
2 11.17 UBE3A HECW2 CTBP1
3
Show member pathways
11.13 PIGN PIGG PIGA
4
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 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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