MCID: SCL018
MIFTS: 61

Scoliosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 75 29 6 43 44 15 17 33

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
MeSH 44 D012600
NCIt 50 C78603
SNOMED-CT 68 36773001
ICD10 33 M41 M41.9
UMLS 72 C0036439

Summaries for Scoliosis

MedlinePlus : 43 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 idiopathic scoliosis and marfan syndrome. An important gene associated with Scoliosis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. The drugs Cyclobenzaprine and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes, and related phenotypes are behavior/neurological and growth/size/body region

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

Wikipedia : 75 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 1028)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 35.5 FBN1 COL1A2 CHD7 BNC2
2 marfan syndrome 33.6 FBN2 FBN1 COL1A2
3 spondylocostal dysostosis 3, autosomal recessive 33.3 MESP2 DLL3
4 spondylocostal dysostosis 1, autosomal recessive 32.8 MESP2 DLL3
5 stiff skin syndrome 32.5 FBN1 COL1A2
6 brittle bone disorder 31.9 COL2A1 COL1A2 COL1A1
7 hypermobile ehlers-danlos syndrome 31.5 FBN1 COL1A1
8 spondylocostal dysostosis, autosomal recessive 31.4 MESP2 DLL3
9 spondyloepiphyseal dysplasia congenita 31.3 COL2A1 COL1A2 COL1A1
10 myopia 31.2 FBN1 COL2A1 COL1A1 CHD7
11 connective tissue disease 31.1 FBN2 FBN1 COL1A2 COL1A1
12 marden-walker syndrome 31.0 FBN2 FBN1
13 collagen disease 30.9 FBN1 COL1A2 COL1A1
14 pectus carinatum 30.9 FBN1 COL2A1
15 osteogenesis imperfecta, type viii 30.9 COL1A2 COL1A1
16 inguinal hernia 30.8 TTN NF1 FBN1
17 strabismus 30.1 NF1 MED13L COL2A1
18 hypertelorism 29.9 PTPN11 NSD1 MED13L COL1A1
19 scoliosis, isolated 1 12.8
20 horizontal gaze palsy with progressive scoliosis 12.7
21 seizures, scoliosis, and macrocephaly/microcephaly syndrome 12.6
22 scoliosis, isolated 3 12.6
23 gaze palsy, familial horizontal, with progressive scoliosis 1 12.6
24 scoliosis, isolated 4 12.5
25 scoliosis, isolated 5 12.5
26 scoliosis, isolated 2 12.5
27 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
28 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.4
29 acrodysplasia scoliosis 12.4
30 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.4
31 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
32 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.3
33 scoliosis, arachnodactyly, and blindness 12.3
34 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
35 infantile scoliosis 12.2
36 spondylocarpotarsal synostosis syndrome 12.2
37 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 12.2
38 macs syndrome 12.2
39 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 12.1
40 duane anomaly-myopathy-scoliosis syndrome 12.1
41 steel syndrome 12.0
42 camptodactyly, tall stature, and hearing loss syndrome 11.9
43 epiphyseal chondrodysplasia, miura type 11.8
44 spondylocostal dysostosis 5 11.8
45 pilotto syndrome 11.8
46 shprintzen omphalocele syndrome 11.7
47 arthrogryposis, distal, type 4 11.7
48 friedreich ataxia 1 11.6
49 spondyloepimetaphyseal dysplasia, strudwick type 11.5
50 rett syndrome 11.5

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis

Symptoms & Phenotypes for Scoliosis

MGI Mouse Phenotypes related to Scoliosis:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 CHD7 COL1A1 COL1A2 COL2A1 CREBBP DLL3
2 growth/size/body region MP:0005378 10.37 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
3 cellular MP:0005384 10.36 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
4 mortality/aging MP:0010768 10.36 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
5 craniofacial MP:0005382 10.35 BNC2 CHD7 COL1A1 COL2A1 CREBBP DLL3
6 cardiovascular system MP:0005385 10.34 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
7 embryo MP:0005380 10.32 CHD7 COL1A1 COL2A1 CREBBP DLL3 FBN1
8 homeostasis/metabolism MP:0005376 10.3 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
9 adipose tissue MP:0005375 10.18 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
10 muscle MP:0005369 10.18 CHD7 COL1A1 COL1A2 CREBBP DLL3 FBN1
11 limbs/digits/tail MP:0005371 10.17 CHD7 COL1A1 COL1A2 COL2A1 CREBBP DLL3
12 nervous system MP:0003631 10.13 CHD7 COL1A1 COL2A1 CREBBP DLL3 FBN1
13 hearing/vestibular/ear MP:0005377 10.08 CHD7 COL1A1 COL2A1 DLL3 FBN2 NF1
14 digestive/alimentary MP:0005381 10.07 BNC2 CHD7 COL1A1 COL2A1 CREBBP NF1
15 normal MP:0002873 9.91 COL1A1 COL1A2 COL2A1 CREBBP MESP2 MYF5
16 skeleton MP:0005390 9.86 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
17 respiratory system MP:0005388 9.85 CHD7 COL1A1 COL2A1 CREBBP FBN1 FBN2
18 vision/eye MP:0005391 9.28 CHD7 COL1A1 COL2A1 DLL3 FBN2 MYF5

Drugs & Therapeutics for Scoliosis

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

(show top 50) (show all 238)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclobenzaprine Approved Phase 4 303-53-7 2895
2
Thrombin Approved, Investigational Phase 4
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
8
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
9
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
10
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
11
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
12
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
13
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
14
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
15
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
16
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
17
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
18
Cefazolin Approved Phase 4 25953-19-9 656510 33255
19
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
20
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
21
Povidone Approved Phase 4 9003-39-8
22
Iodine Approved, Investigational Phase 4 7553-56-2 807
23
Povidone-iodine Approved Phase 4 25655-41-8
24
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
25
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
26
Sodium citrate Approved, Investigational Phase 4 68-04-2
27
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
28
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
29
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
30
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
31
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
32
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
33
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
34 Acetaminophen, hydrocodone drug combination Phase 4
35 Coagulants Phase 4
36 Antifibrinolytic Agents Phase 4
37 Hemostatics Phase 4
38 Analgesics Phase 4
39 Bone Density Conservation Agents Phase 4
40 Excitatory Amino Acid Antagonists Phase 4
41 Anesthetics, Dissociative Phase 4
42 Excitatory Amino Acids Phase 4
43 Hypnotics and Sedatives Phase 4
44 Analgesics, Non-Narcotic Phase 4
45 GABA Agents Phase 4
46 GABA Modulators Phase 4
47 Antimanic Agents Phase 4
48 Cyclooxygenase Inhibitors Phase 4
49 Anti-Inflammatory Agents, Non-Steroidal Phase 4
50 Antipyretics Phase 4

Interventional clinical trials:

(show top 50) (show all 368)
# 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 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. Unknown status NCT01451788 Phase 4
3 A Randomized Blinded Prospective Trial Comparing Single Intraoperative Dose of Methadone Versus Placebo in Pediatric Patients Undergoing Spine Surgery. Unknown status NCT02206685 Phase 4 Methadone;Normal Saline
4 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
5 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
6 Modulation of μ Opioid Receptor Mediated Analgesia, Tolerance and Hyperalgesia in Children and Adolescents Completed NCT01325493 Phase 4 Ketamine;Normal Saline
7 Pain, Fentanyl Consumption, and Delirium in Children After Scoliosis Surgery: Dexmedetomidine Versus Midazolam Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
8 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
9 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
10 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)
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 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
13 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 DepoDur™
14 Tranexamic Acid Versus Novel Uterine Cooling Technique in Reducing Blood Loss and Incidence of Postpartum Hemorrhage at Caesarean Section Completed NCT02780245 Phase 4 Tranexamic Acid
15 Assessment of the Efficacy of Forteo (Teriparatide) in Patients Undergoing Posterolateral Lumbar Spinal Fusion Completed NCT01292252 Phase 4
16 Comparative Study For Role Of Different Prophylactic Doses Of Intravenous Tranexamic Acid In Reducing Blood Loss At Caesarean Section: A Randomised Controlled Trial Completed NCT02739815 Phase 4 Normal Saline containing a prophylactic Antibiotic 1 g;Tranexamic Acid
17 Is There a Relation Between Unilateral Epidural Block and Repeated Epidural Anesthesia? Completed NCT03806673 Phase 4 marcaine
18 The Efficacy and Population Pharmacokinetics/ Pharmacogenomics of a Reduced Dose of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
19 Improvement in Pain, Function and Quality of Life With a Protocolized Exercise Program Compared With Non-steroidal Anti-inflammatory Analgesics in Patients With Subacute Low Back Pain in Medellín, Colombia, 2009-2010 Completed NCT01374269 Phase 4 NSAID (Nonsteroidal anti-inflammatory drugs)
20 Skeletal Muscle and Adipose Tissue Concentrations of Cefazolin Comparing Two Different Dosing Regimens During Pediatric Posterior Spinal Fusion Surgery Recruiting NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
21 Effect of Pregabalin on Immediate Post-operative and Longterm Pain and Spinal Cord Monitoring in Children Undergoing Instrumented Spinal Surgery. Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
22 Bacterial Wound Contamination Prior to Closure: Povidone-Iodine Versus Saline Irrigation in Pediatric Spine Fusion Surgery Active, not recruiting NCT02527512 Phase 4 Povidone-Iodine
23 The Use of Botulinum Toxin A Injections As An Adjunct to Bracing to Treat Adolescent Idiopathic Scoliosis Not yet recruiting NCT03935295 Phase 4 AbobotulinumtoxinA;Placebos
24 Intravenous Lidocaine to Reduce Postoperative Opioid Consumption and Improve Recovery After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Not yet recruiting NCT03893318 Phase 4 IV lidocaine;Placebos
25 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
26 A Multi-Centre Randomized Phase IV Clinical Trial Comparing Rods of Varying Yield Strengths and Their Ability to Hold Correction of Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
27 Perioperative Outcomes of Multilevel Posterior Spinal Fusion in Adolescent Scoliosis With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
28 Actifuse ABX and Local Bone Have Comparable Outcomes to Local Bone in Instrumented Multi-Level Adult Spinal Deformity Patients Terminated NCT01852747 Phase 4
29 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)
30 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
31 Can Calcium and Vitamin D Supplementation Improve Bone Mineral Density and Curve Progression in Girls With Adolescent Idiopathic Scoliosis? Completed NCT01103115 Phase 3
32 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
33 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
34 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
35 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
36 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
37 The Implications of Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients as Regard Its Effect on the Duration of Wake up Test and Postoperative Opioid Consumption Completed NCT03178708 Phase 2, Phase 3 Group A amantadine sulfate
38 Does Tranexamic Acid Administration Reduce Blood Loss During Head and Neck Surgery? Completed NCT00147862 Phase 3 Tranexamic Acid
39 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
40 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
41 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
42 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
43 The Use of Perioperative Gabapentin in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis to Prevent Chronic Postsurgical Pain, a Pilot Study. Recruiting NCT03867240 Phase 3 Gabapentin
44 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Recruiting NCT03537612 Phase 3 Clonidine
45 Monocentric, Prospective Randomized Controlled Clinical Trial Assessing the Effect on the Lower Limb Spinal Motoneuron Excitability, the Efficacy in Term of Morphinic Sparing and Safety of of Early Clonidine Bolus Intravenous Administration During General Anesthesia in Children and Adolescent 6-18 Years Old Requesting Reconstructive Tympanic Surgery Recruiting NCT02592915 Phase 3 Clonidine hydrochloride
46 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Active, not recruiting NCT02285621 Phase 3
47 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
48 Medial-Wedge Insole is Highly Effective in the Treatment of Valgus Knee Osteoarthritis Terminated NCT00467337 Phase 3
49 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
50 Comparing the Moss Miami and Universal Spinal Instrumentation Systems for the Treatment of Adolescent Idiopathic Scoliosis Completed NCT00273598 Phase 2

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:

41
Bone, Spinal Cord, Testes, Lung, Brain, Heart, Skin

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 19289)
# Title Authors PMID Year
1
Association between ladybird homeobox 1 gene polymorphisms and adolescent idiopathic scoliosis: A MOOSE-compliant meta-analysis. 38 17
31277174 2019
2
Is pharmacological anticoagulant prophylaxis necessary for adolescent idiopathic scoliosis surgery? 38 17
31335737 2019
3
A novel de novo mutation in MYH7 gene in a patient with early onset muscular weakness and severe kyphoscoliosis: A case report. 17
31305444 2019
4
Perioperative complications associated with minimally invasive surgery of oblique lumbar interbody fusions for degenerative lumbar diseases in 113 patients. 38
31302382 2019
5
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome. 38
31294511 2019
6
The retinol-retinoic acid metabolic pathway is impaired in the lumbar spine of a rat model of congenital kyphoscoliosis. 38
31056772 2019
7
National Databases in Pediatric Orthopaedic Surgery: A Comparison of Demographics, Procedures, and Outcomes. 38
31393308 2019
8
Indication and technical implementation of the intraoperative neurophysiological monitoring during spine surgeries-a transnational survey in the German-speaking countries. 38
31227966 2019
9
Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl. 38
30770994 2019
10
The Amount of Relative Curve Correction Is More Important Than Upper Instrumented Vertebra Selection for Ensuring Postoperative Shoulder Balance in Lenke Type 1 and Type 2 Adolescent Idiopathic Scoliosis. 38
31261265 2019
11
Minimal invasive posterior correction of Lenke 5C idiopathic scoliosis: comparative analysis of minimal invasive vs. open surgery. 38
30874895 2019
12
Congenital Etiology Is an Independent Risk Factor for Complications in Adolescents Undergoing Corrective Scoliosis Surgery: Comparison of In-hospital Comorbidities Using Nationwide KID's Inpatient Database. 38
31393299 2019
13
An ontology-based module of the information system ScolioMedIS for 3D digital diagnosis of adolescent scoliosis. 38
31416553 2019
14
Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies. 38
31393300 2019
15
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. 38
31339634 2019
16
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. 38
31393296 2019
17
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications. 38
31129566 2019
18
When Should We Wean Bracing for Adolescent Idiopathic Scoliosis? 38
31135558 2019
19
Effect of Direct Vertebral Rotation in Single Thoracic Adolescent Idiopathic Scoliosis: Better 3-Dimensional Deformity Correction. 38
31150860 2019
20
The Perioperative Efficacy and Safety of Tranexamic Acid in Adolescent Idiopathic Scoliosis. 38
31176837 2019
21
CORR Insights®: When Should We Wean Bracing for Adolescent Idiopathic Scoliosis? 38
31283729 2019
22
Best Practice Guidelines for Surgical Site Infection Prevention With Surgical Treatment of Early Onset Scoliosis. 38
31393298 2019
23
Compound heterozygous mutations of SH3TC2 in Charcot-Marie-Tooth disease type 4C patients. 38
31227790 2019
24
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. 38
31015262 2019
25
Magnetically Controlled Growing Rods in Treatment of Early-Onset Scoliosis: A Single Center Study With a Minimum of 2-Year-Follow up and Preliminary Results After Converting Surgery. 38
30985569 2019
26
Long noncoding RNA lncAIS downregulation in mesenchymal stem cells is implicated in the pathogenesis of adolescent idiopathic scoliosis. 38
30464226 2019
27
A three-dimensional analysis of scoliosis progression in non-idiopathic scoliosis: is it similar to adolescent idiopathic scoliosis? 38
31183529 2019
28
Analysis of the interface pressure exerted by the Chêneau brace in patients with double-curve adolescent idiopathic scoliosis. 38
31244368 2019
29
Sagittal Alignment Profile Following Selective Thoracolumbar/Lumbar Fusion in Patients With Lenke Type 5C Adolescent Idiopathic Scoliosis. 38
30921290 2019
30
Curve Modulation and Apex Migration Using Shilla Growth Guidance Rods for Early-onset Scoliosis at 5-Year Follow-up. 38
31393297 2019
31
Effect of Serious Adverse Events on Health-related Quality of Life Measures Following Surgery for Adult Symptomatic Lumbar Scoliosis. 38
30921297 2019
32
Radiological and clinical predictors of scoliosis in patients with Chiari malformation type I and spinal cord syrinx from the Park-Reeves Syringomyelia Research Consortium. 38
31419800 2019
33
Selection of Lowest Instrumented Vertebra Using Fulcrum Bending Radiographs Achieved Shorter Fusion Safely Compared with the Last "Substantially" Touching Vertebra in Lenke Type 1A and 2A Curves. 38
31389865 2019
34
Impact of Perioperative Mental Status on Health-Related Quality of life in Patients with Adult Spinal Deformities. 38
31389866 2019
35
Prevalence, trends, and correlates of malnutrition among hospitalized children with cerebral palsy. 38
31378936 2019
36
Basilar invagination in a child with atlanto-occipital subluxation and suspected prenatal Dandy-Walker malformation. 38
31101983 2019
37
Development of Deployable Predictive Models for Minimal Clinically Important Difference Achievement Across the Commonly Used Health-related Quality of Life Instruments in Adult Spinal Deformity Surgery. 38
30896589 2019
38
Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III. 38
30712120 2019
39
Growth-Friendly Spine Surgery in Escobar Syndrome. 38
30628977 2019
40
[Non-ambulatory patients with Duchenne muscular dystrophy : Recommendations for monitoring disease progression and course of treatment]. 38
31270551 2019
41
The technical note and approach related complications of modified lateral lumbar interbody fusion. 38
31085077 2019
42
Five-Year Reoperation Rates and Causes for Reoperations Following Lumbar Microendoscopic Discectomy and Decompression. 38
31415462 2019
43
Spinal bracing and lung function in type-2 spinal muscular atrophy. 38
29687968 2019
44
Physiological variations in the sagittal spine alignment in an asymptomatic elderly population. 38
31377476 2019
45
Anterior instrumentation through posterior approach in neglected congenital kyphosis: a novel technique and case series. 38
30671661 2019
46
Intrathecal baclofen therapy for treatment of spasticity in infants and small children under 6 years of age. 38
31399764 2019
47
Gene expression analyses in malformed skeletal structures of gilthead sea bream (Sparus aurata). 38
31180144 2019
48
The Complex Spine in Children with Spinal Muscular Atrophy: The Transforaminal Approach-A Transformative Technique. 38
31296522 2019
49
Scoliotic Imaging With a Novel Double-Sweep 2.5-Dimensional Extended Field-of-View Ultrasound. 38
31170068 2019
50
Leaking the Diagnosis: A Case of Convulsive Status Epilepticus Due to Intracranial Hypotension. 38
31372926 2019

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 15:48722939-48722939 15:48430742-48430742
2 CREBBP NM_001079846.1(CREBBP): c.6130C> T (p.Gln2044Ter) single nucleotide variant Pathogenic rs1057518789 16:3778804-3778804 16:3728803-3728803
3 ESRRG ; GPATCH2 ; RRP15 ; SPATA17 ; TGFB2 ; USH2A GRCh37/hg19 1q41(chr1: 215829463-219225857) copy number loss Pathogenic 1:215829463-219225857 :0-0
4 MYF5 NM_005593.3(MYF5): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic 12:81111125-81111125 12:80717346-80717346
5 MYF5 NM_005593.3(MYF5): c.23_32del (p.Gln8fs) deletion Pathogenic rs1555216163 12:81110865-81110874 12:80717086-80717095
6 CHD7 NM_017780.4(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 8:61767038-61767038 8:60854479-60854479
7 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 12:112926873-112926873 12:112489069-112489069
8 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 5:176662864-176662864 5:177235863-177235863
9 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic
10 46;XY;t(15;17)(q24;q21.3)dn Translocation Pathogenic
11 TMCO1 NM_019026.4(TMCO1): c.616C> T (p.Arg206Ter) single nucleotide variant Pathogenic 1:165712409-165712409 1:165743172-165743172
12 TTN NM_001267550.2(TTN): c.101019_101020dup (p.Arg33674fs) duplication Pathogenic/Likely pathogenic rs886041287 2:179400322-179400323 2:178535595-178535596
13 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 5:176710828-176710828 5:177283827-177283827
14 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 15:48712949-48712949 15:48420752-48420752
15 FAM120AOS NM_198841.4(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 9:96209921-96209921 9:93447639-93447639
16 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic rs1555103652 12:13722907-13722907 12:13569973-13569973
17 COL2A1 NM_001844.5(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 12:48377895-48377895 12:47984112-47984112
18 GFAP NM_002055.5(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 17:42988685-42988685 17:44911317-44911317
19 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 19:38959759-38959759 19:38469119-38469119
20 FGF14 NM_175929.2(FGF14): c.501dup (p.Arg168fs) duplication Likely pathogenic 13:102379082-102379083 13:101726733-101726733
21 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 5:148422281-148422281 5:149042718-149042718
22 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 19:39025415-39025415 19:38534775-38534775
23 SOX3 NM_005634.2(SOX3): c.735_737dup (p.Ala248dup) duplication Uncertain significance rs398124211 X:139586489-139586491 X:140504324-140504326
24 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 X:152037592-152037592 X:152869048-152869048
25 FLNA NM_001110556.2(FLNA): c.6146G> A (p.Arg2049His) single nucleotide variant Uncertain significance rs1557176118 X:153581449-153581449 X:154353081-154353081
26 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 9:137726994-137726994 9:134835148-134835148
27 POC5 NM_001099271.2(POC5): c.1363G> C (p.Ala455Pro) single nucleotide variant Uncertain significance 5:74981076-74981076 5:75685251-75685251
28 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
29 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
30 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
31 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 1:10363509-10363509 1:10303451-10303451
32 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
33 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation Uncertain significance
34 46;X;inv(X)(q26q28)dn inversion Uncertain significance
35 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
36 46;XX;t(5;13)(q15;q32)dn Translocation Uncertain significance
37 GDF3 NM_020634.3(GDF3): c.796C> T (p.Arg266Cys) single nucleotide variant Likely benign rs140926412 12:7842773-7842773 12:7690177-7690177

Expression for Scoliosis

Search GEO for disease gene expression data for Scoliosis.

Pathways for Scoliosis

GO Terms for Scoliosis

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.67 FBN1 COL2A1 COL1A2 COL1A1
2 extracellular matrix GO:0031012 9.55 FBN2 FBN1 COL2A1 COL1A2 COL1A1
3 collagen trimer GO:0005581 9.5 COL2A1 COL1A2 COL1A1
4 collagen-containing extracellular matrix GO:0062023 9.35 FBN2 FBN1 COL2A1 COL1A2 COL1A1
5 microfibril GO:0001527 9.26 FBN2 FBN1
6 collagen type I trimer GO:0005584 8.62 COL1A2 COL1A1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.78 MESP2 DLL3 CREBBP
2 platelet activation GO:0030168 9.76 PTPN11 COL1A2 COL1A1
3 ossification GO:0001503 9.75 MYF5 COL2A1 COL1A1
4 roof of mouth development GO:0060021 9.69 COL2A1 CHD7 BNC2
5 somitogenesis GO:0001756 9.63 MYF5 MESP2 DLL3
6 limb morphogenesis GO:0035108 9.62 FBN2 COL2A1
7 artery morphogenesis GO:0048844 9.61 NF1 CHD7
8 cartilage condensation GO:0001502 9.6 MYF5 COL2A1
9 myelination in peripheral nervous system GO:0022011 9.59 SH3TC2 NF1
10 blood vessel development GO:0001568 9.58 COL1A2 COL1A1 CHD7
11 regulation of cell-matrix adhesion GO:0001952 9.57 NF1 MYF5
12 protein heterotrimerization GO:0070208 9.56 COL1A2 COL1A1
13 camera-type eye development GO:0043010 9.56 MYF5 FBN2 FBN1 CHD7
14 skin morphogenesis GO:0043589 9.55 COL1A2 COL1A1
15 genitalia development GO:0048806 9.54 PTPN11 CHD7
16 heart morphogenesis GO:0003007 9.54 MESP2 COL2A1 CHD7
17 embryonic eye morphogenesis GO:0048048 9.52 FBN2 FBN1
18 bone trabecula formation GO:0060346 9.49 FBN2 COL1A1
19 atrioventricular canal development GO:0036302 9.48 PTPN11 CHD7
20 collagen fibril organization GO:0030199 9.46 NF1 COL2A1 COL1A2 COL1A1
21 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL2A1 COL1A1
22 skeletal system development GO:0001501 9.43 FBN1 DLL3 COL2A1 COL1A2 COL1A1 CHD7
23 sequestering of TGFbeta in extracellular matrix GO:0035583 9.32 FBN2 FBN1
24 extracellular matrix organization GO:0030198 9.17 NF1 MYF5 FBN2 FBN1 COL2A1 COL1A2

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.54 TTN COL1A2 COL1A1
2 transcription coregulator activity GO:0003712 9.5 NSD1 MED13L CREBBP
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL2A1 COL1A2 COL1A1
4 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN2 FBN1
5 platelet-derived growth factor binding GO:0048407 9.13 COL2A1 COL1A2 COL1A1
6 extracellular matrix structural constituent GO:0005201 9.02 FBN2 FBN1 COL2A1 COL1A2 COL1A1

Sources for Scoliosis

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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