MCID: SCL018
MIFTS: 57

Scoliosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 74 29 6 42 44 15 17 32

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
MeSH 44 D012600
NCIt 50 C78603
SNOMED-CT 67 36773001
ICD10 32 M41 M41.9
UMLS 71 C0036439

Summaries for Scoliosis

MedlinePlus : 42 Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Sometimes it is easy to notice, but not always. Children may get screening for scoliosis at school or during a checkup. If it looks like there is a problem, your doctor will use your medical and family history, a physical exam, and imaging tests to make a diagnosis. Treatment depends on your age, how much more you're likely to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Scoliosis is related to sotos syndrome 1 and kabuki syndrome 1. An important gene associated with Scoliosis is TBX6 (T-Box Transcription Factor 6), and among its related pathways/superpathways is Neural Crest Differentiation. The drugs Ibuprofen and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone and heart, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Disease Ontology : 12 A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.

Wikipedia : 74 Scoliosis is a medical condition in which a person's spine has a sideways curve. The curve is usually... more...

Related Diseases for Scoliosis

Diseases in the Scoliosis family:

Infantile Scoliosis

Diseases related to Scoliosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1080)
# Related Disease Score Top Affiliating Genes
1 sotos syndrome 1 31.9 TBX6 NSD1 CHD7
2 kabuki syndrome 1 31.8 NSD1 CREBBP CHD7
3 odontochondrodysplasia 31.8 PTPN11 FBN1 CTSK COL2A1
4 hypermobile ehlers-danlos syndrome 30.7 GRIN2B FBN1 EFEMP1
5 patent ductus arteriosus 1 30.5 PTPN11 NSD1 FBN1 CHD7
6 atrial heart septal defect 30.5 PTPN11 FBN1 CREBBP CHD7
7 marden-walker syndrome 30.2 FBN1 EFEMP1
8 strabismus 30.2 TMCO1 ROBO3 MED13L COL2A1 CHD7
9 congenital contractures 30.1 RYR1 CHRNG
10 peripheral nervous system disease 30.1 RYR1 HARS1 GFAP CHRNG
11 pectus carinatum 30.0 NSD1 FBN1 CREBBP COL2A1
12 patent foramen ovale 29.6 PTPN11 NSD1 MED13L FBN1
13 hypertelorism 29.4 PTPN11 NSD1 MED13L
14 disease of mental health 29.0 RELN PTPN11 NSD1 MED13L HARS1 GRIN2B
15 scoliosis, isolated 1 11.8
16 idiopathic scoliosis 11.7
17 horizontal gaze palsy with progressive scoliosis 11.7
18 macs syndrome 11.5
19 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.5
20 scoliosis, isolated 3 11.4
21 gaze palsy, familial horizontal, with progressive scoliosis 1 11.4
22 myopathy, congenital, progressive, with scoliosis 11.4
23 spondylocarpotarsal synostosis syndrome 11.4
24 acrodysplasia scoliosis 11.4
25 radioulnar synostosis-microcephaly-scoliosis syndrome 11.3
26 scoliosis, isolated 4 11.3
27 scoliosis, isolated 5 11.3
28 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 11.3
29 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 11.3
30 scoliosis, isolated 2 11.3
31 epiphyseal chondrodysplasia, miura type 11.3
32 steel syndrome 11.3
33 camptodactyly, tall stature, and hearing loss syndrome 11.3
34 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 11.3
35 camptodactyly-tall stature-scoliosis-hearing loss syndrome 11.3
36 arthrogryposis, distal, type 4 11.3
37 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.2
38 shprintzen omphalocele syndrome 11.2
39 stac3 disorder 11.2
40 friedreich ataxia 11.1
41 pilotto syndrome 11.1
42 spondylocostal dysostosis 5 11.1
43 spondylocostal dysostosis 3, autosomal recessive 11.0
44 infantile scoliosis 11.0
45 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.0
46 spondyloepimetaphyseal dysplasia, strudwick type 11.0
47 marfan syndrome 11.0
48 scoliosis, arachnodactyly, and blindness 11.0
49 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.0
50 muscular dystrophy, duchenne type 11.0

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis

Symptoms & Phenotypes for Scoliosis

GenomeRNAi Phenotypes related to Scoliosis according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.66 GRIN2B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 9.66 PTPN11
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.66 RYR1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.66 GRIN2B PTPN11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 9.66 RYR1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-138 9.66 PTPN11
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.66 GRIN2B
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 9.66 PTPN11
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.66 GRIN2B
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 9.66 RYR1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-176 9.66 GRIN2B
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.66 CHRNG
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-186 9.66 GRIN2B
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.66 PTPN11 RYR1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.66 GRIN2B
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 9.66 PTPN11
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 9.66 PTPN11
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 9.66 GRIN2B
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-80 9.66 RYR1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-85 9.66 GRIN2B

MGI Mouse Phenotypes related to Scoliosis:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 CHD7 CHRNG COL2A1 CREBBP CTSK EFEMP1
2 growth/size/body region MP:0005378 10.33 CHD7 CHRNG COL2A1 CREBBP CTSK EFEMP1
3 cellular MP:0005384 10.3 CHD7 COL2A1 CREBBP CTSK FBN1 GFAP
4 homeostasis/metabolism MP:0005376 10.28 CHD7 CHRNG COL2A1 CREBBP CTSK EFEMP1
5 embryo MP:0005380 10.22 CHD7 CHRNG COL2A1 CREBBP FBN1 MYF5
6 mortality/aging MP:0010768 10.22 CHD7 CHRNG COL2A1 CREBBP EFEMP1 FBN1
7 digestive/alimentary MP:0005381 10.19 CHD7 COL2A1 CREBBP CTSK EFEMP1 GFAP
8 craniofacial MP:0005382 10.16 CHD7 COL2A1 CREBBP CTSK FBN1 MYF5
9 adipose tissue MP:0005375 10.15 CHD7 COL2A1 CREBBP EFEMP1 FBN1 MYF5
10 immune system MP:0005387 10.14 CHD7 COL2A1 CREBBP CTSK EFEMP1 FBN1
11 nervous system MP:0003631 10 CHD7 CHRNG COL2A1 CREBBP CTSK FBN1
12 limbs/digits/tail MP:0005371 9.97 CHD7 COL2A1 CREBBP CTSK FBN1 PTPN11
13 muscle MP:0005369 9.96 CHD7 CHRNG CREBBP EFEMP1 FBN1 GFAP
14 respiratory system MP:0005388 9.65 CHD7 CHRNG COL2A1 CREBBP CTSK FBN1
15 skeleton MP:0005390 9.36 CHD7 COL2A1 CREBBP CTSK EFEMP1 FBN1

Drugs & Therapeutics for Scoliosis

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

(show top 50) (show all 164)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 4 15687-27-1 3672
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
8
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
11
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
12
Methadone Approved Phase 4 76-99-3 4095
13
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
14
Thrombin Approved, Investigational Phase 4
15
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
16
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
17
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
18
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
19
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
20
Cefazolin Approved Phase 4 25953-19-9 656510 33255
21
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
22 Acetaminophen, hydrocodone drug combination Phase 4
23 Hemostatics Phase 4
24 Coagulants Phase 4
25 Antifibrinolytic Agents Phase 4
26 Anesthetics, Dissociative Phase 4
27 Anesthetics, General Phase 4
28 Anesthetics, Intravenous Phase 4
29 Hormones Phase 4
30 Diphosphonates Phase 4
31 calcium channel blockers Phase 4
32 Analgesics, Non-Narcotic Phase 4
33 Hypnotics and Sedatives Phase 4
34 Narcotics Phase 4
35 Psychotropic Drugs Phase 4
36 GABA Modulators Phase 4
37 Anti-Anxiety Agents Phase 4
38 Anticonvulsants Phase 4
39 Respiratory System Agents Phase 4
40 Antitussive Agents Phase 4
41 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
42 abobotulinumtoxinA Phase 4
43 Botulinum Toxins, Type A Phase 4
44 Botulinum Toxins Phase 4
45 Cholinergic Agents Phase 4
46 Dialysis Solutions Phase 4
47 Pharmaceutical Solutions Phase 4
48 Sodium Channel Blockers Phase 4
49 Diuretics, Potassium Sparing Phase 4
50 Anti-Arrhythmia Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 333)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Double-Blind, Controlled Trial Evaluating the Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Unknown status NCT02651324 Phase 4 Ketamine
2 Modulation of μ Opioid Receptor Mediated Analgesia, Tolerance and Hyperalgesia in Children and Adolescents Completed NCT01325493 Phase 4 Ketamine;Normal Saline
3 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
4 Pain, Fentanyl Consumption, and Delirium in Children After Scoliosis Surgery: Dexmedetomidine Versus Midazolam Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
5 Patient-controlled Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4 Intermittent bolus epidural morphine;continuous epidural morphine
6 Effectiveness Of Gelatin Matrix With Human Derived Thrombin On Blood Loss, Surgical Time, Hospital Stay And Complications In Adolescents Undergoing Spine Surgery For Adolescent Idiopathic Scoliosis: A Randomized Clinical Trial. Completed NCT01451788 Phase 4
7 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
8 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Completed NCT03183479 Phase 4 Fibrinogen Concentrate Human;Normal saline
9 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
10 Effect of Pregabalin on Immediate Post-operative and Longterm Pain and Spinal Cord Monitoring in Children Undergoing Instrumented Spinal Surgery. Completed NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
11 A Prospective, Randomized, Double-blinded Single-site Control Study Comparing Blood Loss Prevention of Tranexamic Acid (TXA) to Epsilon Aminocaproic Acid (EACA) for Corrective Spinal Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
12 A Randomized Blinded Prospective Trial Comparing Single Intraoperative Dose of Methadone Versus Placebo in Pediatric Patients Undergoing Spine Surgery. Completed NCT02206685 Phase 4 Methadone;Normal Saline
13 Assessment of the Efficacy of Forteo (Teriparatide) in Patients Undergoing Posterolateral Lumbar Spinal Fusion Completed NCT01292252 Phase 4
14 Comparison of Measured Versus Predicted Blood Propofol Concentrations During Total Intravenous Anaesthesia in Children Undergoing Spinal Surgery Completed NCT01932424 Phase 4 Propofol 2% (Diprivan 2%, Astra Zeneca UK)
15 The Use of Intraoperative Intrathecal Morphine Versus Epidural Extended Release Morphine for Postoperative Pain Control in Pediatric Patients Undergoing Posterior Spinal Fusion Completed NCT00880607 Phase 4 Intrathecal morphine;Extended Release Epidural Morphine
16 Dysport ® (abobotulinumtoxinA) as an Adjunctive Treatment to Bracing in the Management of Adolescent Idiopathic Scoliosis Recruiting NCT03935295 Phase 4 AbobotulinumtoxinA;Placebos
17 Skeletal Muscle and Adipose Tissue Concentrations of Cefazolin Comparing Two Different Dosing Regimens During Pediatric Posterior Spinal Fusion Surgery Active, not recruiting NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
18 Intravenous Lidocaine to Reduce Postoperative Opioid Consumption and Improve Recovery After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Enrolling by invitation NCT03893318 Phase 4 IV lidocaine;Placebos
19 Perioperative Outcomes of Multilevel Posterior Spinal Fusion in Adolescent Scoliosis With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
20 Actifuse ABX and Local Bone Have Comparable Outcomes to Local Bone in Instrumented Multi-Level Adult Spinal Deformity Patients Terminated NCT01852747 Phase 4
21 A Multi-Centre Randomized Phase IV Clinical Trial Comparing Rods of Varying Yield Strengths and Their Ability to Hold Correction of Adolescent Idiopathic Scoliosis. Withdrawn NCT00768313 Phase 4
22 Topical and Intravenous Use of Tranexamic Acid in Posterior Lumbar Interbody Fusion - A Prospective, Double-blind, Randomized Study Unknown status NCT02496364 Phase 3 Placebo (Topical);Placebo (Intravenous);Tranexamic Acid (Topical);Tranexamic Acid (Intravenous)
23 Effect of Early Administration of Morphine on the Development of Acute Opioid Tolerance During Infusion of Remifentanil for Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3 Morphine
24 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
25 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
26 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
27 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
28 Can Calcium and Vitamin D Supplementation Improve Bone Mineral Density and Curve Progression in Girls With Adolescent Idiopathic Scoliosis? Completed NCT01103115 Phase 3
29 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
30 Perioperative Multimodal Analgesia Including Intravenous Lidocaine Infusion for Pain Management Following Idiopathic Scoliosis Correction Surgery in Children Recruiting NCT04069169 Phase 3 Lidocaine;Saline Solution
31 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
32 Does Teicoplanin Powder Use In Lumbar Instrumentation Surgery Reduce Surgical Site Infection Not yet recruiting NCT04341831 Phase 3 Teicoplanin
33 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Suspended NCT03537612 Phase 3 Clonidine
34 The Use of Perioperative Gabapentin in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis to Prevent Chronic Postsurgical Pain, a Pilot Study. Withdrawn NCT03867240 Phase 3 Gabapentin
35 The Use of Dermabond vs. Standard Staple for Wound Closure in Children With Neuromuscular Scoliosis Undergoing Spinal Deformity Correction Surgery: A Phase II Study Unknown status NCT01135940 Phase 2
36 The Efficacy of Intravenous Tranexamic Acid in Decreasing Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
37 Assessment of the Analgesic Efficacy and Tolerability of the Perioperative Association of the Ketamine With Opiates After Posterior Vertebral Fusion Surgery in Children With Idiopathic Scoliosis Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
38 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
39 Comparing the Moss Miami and Universal Spinal Instrumentation Systems for the Treatment of Adolescent Idiopathic Scoliosis Completed NCT00273598 Phase 2
40 Analgesia Following Posterior Spinal Fusion: Methadone vs Magnesium Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
41 Ultrasound Guided Erector Spinae Plane Block in Scoliotic Adolescents Undergoing Posterior Spine Instrumentation . A Randomized Controlled Trial Completed NCT03968146 Phase 2 Fentanyl;additional Fentanyl;Morphine;rescue Morphine;pethidine;Ketorolac;Acetaminophen
42 The Role of VitD in Rehabilitation of Idiopathic Adolescent Scoliosis Recruiting NCT03582917 Phase 2 Alphacalcidol
43 Blood Loss and Transfusion Requirement in Pediatric Patients With Non-Idiopathic Scoliosis Treated With Tranexamic Acid Undergoing Posterior Spinal Instrumentation and Fusion. Terminated NCT01089140 Phase 2 Tranexamic acid 10mg/kg/hr;Tranexamic acid 100 mg/kg/h infusion;Saline solution
44 Dysphagia and Cervical Spine Disorders in Patients With Neurologic Deficits Due to Brain Lesions Completed NCT01418105 Phase 1
45 Can Aprotinin Reduce Pancreatitis After Scoliosis Surgery Completed NCT00357851 Phase 1 Aprotinin
46 Influence of Leg Length Discrepancy on the Spinal Shape and Biomechanics During Static and Dynamic Activities in Functional and Idiopathic Scoliosis Patients Completed NCT00155545 Phase 1
47 An Innovative Body-Mapping Tank Top Equipped With Biofeedback System for Adolescents With Early Scoliosis Completed NCT02471508 Phase 1
48 Effects of Lateral Trunk Support on Spinal Alignment in Spinal Cord Injured Persons Completed NCT00154505 Phase 1
49 Susceptibility of Motor-Evoked Potentials to Varying Targeted Blood Levels of Dexmedetomidine Completed NCT00671931 Phase 1 low dexmedetomidine, low propofol;high dexmedetomidine, low propofol;Dexmedetomidine;Dexmedetomidin;Dexmedetomidine
50 The Influence of Pharmacogenetics on Methadone Dose, Safety, and Outcomes After Spine Fusion Withdrawn NCT01677650 Phase 1 Methadone

Search NIH Clinical Center for Scoliosis

Cochrane evidence based reviews: scoliosis

Genetic Tests for Scoliosis

Genetic tests related to Scoliosis:

# Genetic test Affiliating Genes
1 Scoliosis 29

Anatomical Context for Scoliosis

MalaCards organs/tissues related to Scoliosis:

40
Spinal Cord, Bone, Heart, Brain, Breast, Bone Marrow, Skin

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 21223)
# Title Authors PMID Year
1
What Are the Roles of Anterior, Lateral, and Antepsoas Interbody Approaches in Spinal Deformity Surgery? 42 61
33438922 2021
2
Sanders stage 7b: Using the appearance of the ulnar physis improves decision-making for brace weaning in patients with adolescent idiopathic scoliosis. 42 61
33380190 2021
3
Bronchus Intermedius Compression from Idiopathic Thoracic Scoliosis. 61 42
33377916 2020
4
Does Clinical Photography Influence Satisfaction With Surgery in Adult Patients Operated on for Spinal Deformity? 61
33560266 2021
5
Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know? 61
33189029 2021
6
Development of a Preoperative Adult Spinal Deformity Comorbidity Score That Correlates With Common Quality and Value Metrics: Length of Stay, Major Complications, and Patient-Reported Outcomes. 61
32875843 2021
7
Factors Affecting Length of Stay Following 3-Column Spinal Osteotomies in Pediatric Patients. 61
32875845 2021
8
Identifying biopsychosocial factors that impact decompressive laminectomy outcomes in veterans with lumbar spinal stenosis: a prospective cohort study. 61
32925594 2021
9
Growth-friendly Spinal Instrumentation in Marfan Syndrome Achieves Sustained Gains in Thoracic Height Amidst High Rates of Implant Failure. 61
33370003 2021
10
Scoliosis in Children Treated With Photon Craniospinal Irradiation for Medulloblastoma. 61
33516438 2021
11
Novel Mutations in UTS2R are Associated with Adolescent Idiopathic Scoliosis in the Chinese Population. 61
33156271 2021
12
Is There Value in Venous Thromboembolism Chemoprophylaxis After Pediatric Scoliosis Surgery? A 28-Year Single Center Study. 61
33448726 2021
13
Postembryonic screen for mutations affecting spine development in zebrafish. 61
33290818 2021
14
Post-operative musculoskeletal outcomes in patients with coarctation of the aorta following different surgical approaches. 61
33186668 2021
15
Perioperative Optimization of Patients With Neuromuscular Disorders Undergoing Scoliosis Corrective Surgery: A Multidisciplinary Team Approach. 61
32875888 2021
16
Congenital Scoliosis of the Pediatric Cervical Spine: Characterization of a 17-Patient Operative Cohort. 61
33534366 2021
17
Making sense of missense variants in TTN-related congenital myopathies. 61
33449170 2021
18
Are Higher Global Alignment and Proportion Scores Associated With Increased Risks of Mechanical Complications After Adult Spinal Deformity Surgery? An External Validation. 61
33079774 2021
19
The correlation between back posture and sagittal jaw position in adult orthodontic patients. 61
33603633 2021
20
Neurotoxic effects in zebrafish embryos by valproic acid and nine of its analogues: the fish-mouse connection? 61
33111190 2021
21
Lumbar Adding-on of the Thoracic Spine After Selective Fusion in Adolescent Idiopathic Scoliosis Lenke Types 1 and 2 Patients: A Critical Appraisal. 61
33181768 2021
22
Risk factors of dumping syndrome after fundoplication for gastroesophageal reflux in children. 61
33388966 2021
23
Non-convulsive status epilepticus in Sotos syndrome: rare first presentation in a rare syndrome. 61
33554696 2021
24
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy. 61
33578442 2021
25
LPAQR-Net: Efficient Vertebra Segmentation from Biplanar Whole-spine Radiographs. 61
33556029 2021
26
The Impact of Spinal Fusion on Hip Displacement in Cerebral Palsy. 61
33569112 2021
27
Extreme lateral interbody fusion (XLIF) in a consecutive series of 72 patients. 61
33596403 2021
28
The effect of pedicle subtraction osteotomy for the correction of severe Scheuermann thoracolumbar kyphosis on sagittal spinopelvic alignment. 61
33568117 2021
29
Mid and lower thoracic kyphosis changes during adulthood: the influence of age, sex and thoracic coronal curvature. 61
33544182 2021
30
Minimally Invasive Techniques for Iliac Bolt Placement: 2-Dimensional Operative Video. 61
33556166 2021
31
On being the right shape: Roles for motile cilia and cerebrospinal fluid flow in body and spine morphology. 61
32693941 2021
32
Targeting miR-10a-5p/IL-6R axis for reducing IL-6-induced cartilage cell ferroptosis. 61
33166496 2021
33
Classification and prognostic factors of residual symptoms after minimally invasive lumbar decompression surgery using a cluster analysis: a 5-year follow-up cohort study. 61
33555366 2021
34
Toward the Development of a Comprehensive Clinically Oriented Patient Profile: A Systematic Review of the Purpose, Characteristic, and Methodological Quality of Classification Systems of Adult Spinal Deformity. 61
33588440 2021
35
Pulmonary Implications of Pediatric Spinal Deformities. 61
33228935 2021
36
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen. 61
33012052 2021
37
Minimal right vertical infra-axillary incision for repair of congenital heart defects. 61
33592183 2021
38
Preliminary clinical and radiologic outcome of matched patients with thoracoabdominal aortic aneurysms treated by low-profile vs standard profile branched aortic endografts. 61
33556526 2021
39
Hand Bone Age Radiography: Comparison Between Slot-scanning and Conventional Techniques. 61
33165269 2021
40
Is the Cranial Sagittal Vertical Axis (Cr-SVA) a Better Midterm Predictor of Clinical Results Than C7-SVA in Adult Patients Operated on Spinal Deformity After a Minimum 2-Year Follow-Up? 61
32568865 2021
41
A New Global Spinal Balance Classification Based on Individual Pelvic Anatomical Measurements in Patients With Adult Spinal Deformity. 61
33156273 2021
42
Proximal junctional kyphosis in Lenke 5 AIS patients: the important factor of pelvic incidence. 61
33588805 2021
43
Analysis of 280 Magnetically Controlled Growing Rod Lengthenings Comparing External Remote Control Readouts and Radiographic Measurements: Impact of Patient and Deformity Factors. 61
33074922 2021
44
Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. 61
33009817 2021
45
A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family. 61
33590889 2021
46
Influence of curve morphology and location on the efficacy of rigid conservative treatment in patients with adolescent idiopathic scoliosis. 61
33517722 2021
47
Impact of Preoperative Anemia on Outcomes After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis. 61
33091648 2021
48
Rare coding variants in MAPK7 predispose to adolescent idiopathic scoliosis. 61
33559989 2021
49
An energy approach describes spine equilibrium in adolescent idiopathic scoliosis. 61
33006695 2021
50
Anchor type at upper instrumented vertebra and postoperative shoulder imbalance in patients with Lenke type 1 adolescent idiopathic scoliosis. 61
32803280 2021

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic 218934
2 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile) SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
3 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
4 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter) SNV Pathogenic 374090 rs1057518891 8:61767038-61767038 8:60854479-60854479
5 GPATCH2 GRCh37/hg19 1q41(chr1:215829463-219225857) copy number loss Pathogenic 523271 1:215829463-219225857
6 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
7 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs) Deletion Pathogenic 523663 rs1555216163 12:81110863-81110872 12:80717084-80717093
8 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys) SNV Pathogenic 523662 rs1565864693 12:81111125-81111125 12:80717346-80717346
9 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
10 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
11 RELN NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly) SNV Pathogenic 684430 rs760019076 7:103163872-103163872 7:103523425-103523425
12 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) Deletion Pathogenic 691884 rs1572850869 2:56144993-56144997 2:55917858-55917862
13 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) SNV Pathogenic 691885 rs765517862 2:56108772-56108772 2:55881637-55881637
14 TBX6 NM_004608.3(TBX6):c.356G>A (p.Arg119His) SNV Pathogenic 694403 rs200175825 16:30100529-30100529 16:30089208-30089208
15 TBX6 NM_004608.3(TBX6):c.473_475dup (p.Glu159_Pro160insGly) Duplication Pathogenic 694406 rs1596852902 16:30100409-30100410 16:30089088-30089089
16 TBX6 NM_004608.3(TBX6):c.418C>T (p.Leu140Phe) SNV Pathogenic 694414 rs1596853085 16:30100467-30100467 16:30089146-30089146
17 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Pathogenic 684727 rs1571122183 1:150769360-150769360 1:150796884-150796884
18 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) Deletion Pathogenic 978559 15:48776093-48776096 15:48483896-48483899
19 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) Duplication Pathogenic 804287 rs1581504953 5:140056612-140056613 5:140677027-140677028
20 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Pathogenic 804288 rs754304255 5:140054329-140054329 5:140674744-140674744
21 CHRNG NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) SNV Likely pathogenic 18336 rs267606725 2:233404470-233404470 2:232539760-232539760
22 CHRNG NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) SNV Likely pathogenic 548021 rs764266722 2:233405097-233405097 2:232540387-232540387
23 SLC9A6 NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs) Deletion Likely pathogenic 418996 rs1064793575 X:135098865-135098866 X:136016706-136016707
24 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg) SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973
25 TBX6 NM_004608.3(TBX6):c.1133G>A (p.Arg378His) SNV Likely pathogenic 694413 rs756921502 16:30097724-30097724 16:30086403-30086403
26 TBX6 NM_004608.3(TBX6):c.424G>T (p.Asp142Tyr) SNV Likely pathogenic 694404 rs1596853067 16:30100461-30100461 16:30089140-30089140
27 TBX6 NM_004608.3(TBX6):c.434C>T (p.Pro145Leu) SNV Likely pathogenic 188056 rs202193096 16:30100451-30100451 16:30089130-30089130
28 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
29 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
30 TTN-AS1 NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) Duplication Likely pathogenic 279965 rs886041287 2:179400321-179400322 2:178535594-178535595
31 GFAP NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser) SNV Likely pathogenic 374003 rs1057518828 17:42988685-42988685 17:44911317-44911317
32 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
33 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV Likely pathogenic 374114 rs1057518908 12:48377895-48377895 12:47984112-47984112
34 CREBBP NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) SNV Likely pathogenic 373943 rs1057518789 16:3778804-3778804 16:3728803-3728803
35 RYR1 NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp) SNV Likely pathogenic 374168 rs763944786 19:38959759-38959759 19:38469119-38469119
36 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) SNV Uncertain significance 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
37 KIF1B NM_015074.3(KIF1B):c.1977+6205C>T SNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451
38 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
39 FLNA NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His) SNV Uncertain significance 492841 rs1557176118 X:153581449-153581449 X:154353081-154353081
40 COL5A1 NM_001278074.1(COL5A1):c.5314G>A (p.Glu1772Lys) SNV Uncertain significance 523327 rs759042440 9:137726994-137726994 9:134835148-134835148
41 POC5 NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro) SNV Uncertain significance 638595 rs763910203 5:74981076-74981076 5:75685251-75685251
42 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
43 TBX6 NM_004608.3(TBX6):c.440A>T (p.Asp147Val) SNV Uncertain significance 694405 rs1596853022 16:30100445-30100445 16:30089124-30089124
44 TBX6 NM_004608.3(TBX6):c.499C>T (p.Arg167Cys) SNV Uncertain significance 694407 rs760006939 16:30100386-30100386 16:30089065-30089065
45 TBX6 NM_004608.3(TBX6):c.700G>C (p.Gly234Arg) SNV Uncertain significance 694408 rs376817900 16:30100082-30100082 16:30088761-30088761
46 TBX6 NM_004608.3(TBX6):c.929C>T (p.Pro310Leu) SNV Uncertain significance 694409 rs1596848757 16:30098001-30098001 16:30086680-30086680
47 TBX6 NM_004608.3(TBX6):c.1112C>T (p.Pro371Leu) SNV Uncertain significance 694410 rs749373395 16:30097745-30097745 16:30086424-30086424
48 TBX6 NM_004608.3(TBX6):c.1184G>A (p.Gly395Asp) SNV Uncertain significance 694411 rs1596847759 16:30097673-30097673 16:30086352-30086352
49 TBX6 NM_004608.3(TBX6):c.1300C>T (p.Pro434Ser) SNV Uncertain significance 694412 rs1200121314 16:30097557-30097557 16:30086236-30086236
50 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) SNV Uncertain significance 2485 rs80359890 5:148422281-148422281 5:149042718-149042718

Expression for Scoliosis

Search GEO for disease gene expression data for Scoliosis.

Pathways for Scoliosis

Pathways related to Scoliosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.81 TBX6 GFAP COL2A1

GO Terms for Scoliosis

Cellular components related to Scoliosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 8.92 RELN FBN1 EFEMP1 COL2A1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.76 MYF5 GFAP FBN1 COL2A1
2 negative regulation of chondrocyte differentiation GO:0032331 9.49 PTPN11 EFEMP1
3 cartilage condensation GO:0001502 9.48 MYF5 COL2A1
4 genitalia development GO:0048806 9.43 PTPN11 CHD7
5 long-term synaptic potentiation GO:0060291 9.43 RELN GRIN2B GFAP
6 Bergmann glial cell differentiation GO:0060020 9.4 PTPN11 GFAP
7 embryonic eye morphogenesis GO:0048048 9.37 FBN1 EFEMP1
8 atrioventricular canal development GO:0036302 9.32 PTPN11 CHD7
9 central nervous system development GO:0007417 9.26 TBX6 RELN COL2A1 CHD7
10 post-embryonic eye morphogenesis GO:0048050 9.16 FBN1 EFEMP1
11 camera-type eye development GO:0043010 8.92 MYF5 FBN1 EFEMP1 CHD7

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

# Name GO ID Score Top Affiliating Genes
1 proteoglycan binding GO:0043394 8.62 CTSK COL2A1

Sources for Scoliosis

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
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