MCID: SCL018
MIFTS: 58

Scoliosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 77 30 6 44 45 15 17

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
MeSH 45 D012600
NCIt 51 C78603
SNOMED-CT 69 36773001
ICD10 34 M41 M41.9
UMLS 74 C0036439

Summaries for Scoliosis

MedlinePlus : 44 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 Thrombin and Methadone have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord, 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 : 77 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 623)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 34.7 BNC2 CHD7 COL1A2 FBN1
2 marfan syndrome 32.8 COL1A2 FBN1 FBN2
3 spondylocostal dysostosis 3, autosomal recessive 32.8 DLL3 MESP2
4 spondylocostal dysostosis 1, autosomal recessive 32.1 DLL3 MESP2
5 stiff skin syndrome 31.8 COL1A2 FBN1
6 myopathy, centronuclear, 2 31.7 RYR1 TTN
7 brittle bone disorder 31.2 COL1A1 COL1A2 COL2A1
8 hypermobile ehlers-danlos syndrome 30.7 COL1A1 FBN1
9 spondyloepiphyseal dysplasia congenita 30.3 COL1A1 COL1A2 COL2A1
10 pectus carinatum 30.3 COL2A1 FBN1
11 scoliosis, isolated 1 12.7
12 horizontal gaze palsy with progressive scoliosis 12.6
13 scoliosis, isolated 3 12.4
14 gaze palsy, familial horizontal, with progressive scoliosis 1 12.4
15 radioulnar synostosis-microcephaly-scoliosis syndrome 12.3
16 seizures, scoliosis, and macrocephaly syndrome 12.3
17 scoliosis, isolated 4 12.3
18 scoliosis, isolated 5 12.3
19 acrodysplasia scoliosis 12.3
20 scoliosis, isolated 2 12.3
21 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.3
22 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.2
23 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.2
24 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.2
25 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.1
26 infantile scoliosis 12.1
27 scoliosis with unilateral unsegmented bar 12.1
28 spondylocarpotarsal synostosis syndrome 12.1
29 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 12.0
30 scoliosis, arachnodactyly, and blindness 12.0
31 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 12.0
32 opthalmoplegia progressive external scoliosis 12.0
33 syncamptodactyly scoliosis 12.0
34 duane anomaly-myopathy-scoliosis syndrome 12.0
35 steel syndrome 11.9
36 macs syndrome 11.8
37 camptodactyly, tall stature, and hearing loss syndrome 11.8
38 epiphyseal chondrodysplasia, miura type 11.7
39 pilotto syndrome 11.7
40 spondylocostal dysostosis 5 11.7
41 shprintzen omphalocele syndrome 11.6
42 arthrogryposis, distal, type 4 11.6
43 friedreich ataxia 1 11.5
44 rett syndrome 11.4
45 spondyloepimetaphyseal dysplasia, strudwick type 11.4
46 rigid spine muscular dystrophy 1 11.3
47 dental anomalies and short stature 11.3
48 escobar syndrome, type b 11.3
49 iida kannari syndrome 11.3
50 central core disease of muscle 11.3

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis

Symptoms & Phenotypes for Scoliosis

MGI Mouse Phenotypes related to Scoliosis:

47 (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 homeostasis/metabolism MP:0005376 10.3 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
8 embryo MP:0005380 10.29 CHD7 COL1A1 COL2A1 CREBBP DLL3 FBN1
9 adipose tissue MP:0005375 10.23 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 10.1 CHD7 COL1A1 COL2A1 CREBBP DLL3 FBN1
13 digestive/alimentary MP:0005381 10.07 BNC2 CHD7 COL1A1 COL2A1 CREBBP PTPN11
14 hearing/vestibular/ear MP:0005377 10.02 CHD7 COL1A1 COL2A1 DLL3 FBN2 PTPN11
15 normal MP:0002873 9.86 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 9.23 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 185)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Methadone Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
3
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
4
Tranexamic Acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1197-18-8 5526
5
Bupivacaine Approved, Investigational Phase 4,Not Applicable 38396-39-3, 2180-92-9 2474
6
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 57-27-2 5288826
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 113775-47-6 5311068 68602
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
11
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
12
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1,Not Applicable 60-32-2 564
13
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
14
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
15
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
16
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
17
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
18
Oxycodone Approved, Illicit, Investigational Phase 4,Not Applicable 76-42-6 5284603
19
Ibuprofen Approved Phase 4,Not Applicable 15687-27-1 3672
20
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
21
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
22
Cefazolin Approved Phase 4 25953-19-9 33255 656510
23
Cyclobenzaprine Approved Phase 4 303-53-7 2895
24
Acetaminophen Approved Phase 4 103-90-2 1983
25
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
26
Iodine Approved, Investigational Phase 4 7553-56-2 807
27
Povidone Approved Phase 4 9003-39-8
28
Povidone-iodine Approved Phase 4 25655-41-8
29
Acetylcholine Approved, Investigational Phase 4,Not Applicable 51-84-3 187
30
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Not Applicable 7440-70-2 271
31
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 1406-16-2
32 Hemostatics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
33 Coagulants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
34 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 3,Phase 2,Phase 1
35 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Antitussive Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
41 Narcotics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
42 Anesthetics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
43 Antifibrinolytic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
44 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
45 Anesthetics, Local Phase 4,Not Applicable
46 Adrenergic Agonists Phase 4,Phase 3,Phase 1,Not Applicable
47 GABA Modulators Phase 4
48 Adrenergic Agents Phase 4,Phase 3,Phase 1,Not Applicable
49 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Not Applicable
50 GABA Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 327)
# Name Status NCT ID Phase Drugs
1 Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery Unknown status NCT01451788 Phase 4
2 A Trial Comparing Single Intra-op Dose of Methadone Versus Placebo in Patients Undergoing Spine Surgery Unknown status NCT02206685 Phase 4 Methadone;Normal Saline
3 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
4 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
5 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 Effects of Dexmedetomidine on the Postoperative Experience in Children Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
7 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
8 Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
9 Low Dose Ketamine Study on Opioid Tolerance and Hyperalgesia Completed NCT01325493 Phase 4 Ketamine;Normal Saline
10 Blood Propofol Concentrations in Children During Spinal Surgery Completed NCT01932424 Phase 4 Propofol 2% (Diprivan 2%, Astra Zeneca UK)
11 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™
12 Use of Forteo (Teriparatide) in Posterolateral Lumbar Spine Fusion Completed NCT01292252 Phase 4
13 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin Completed NCT01977937 Phase 4 Gabapentin;Simple Syrup
14 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
15 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
16 Effect of Pregabalin on Immediate Post-operative and Longterm Pain Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
17 Skeletal Muscle and Adipose Tissue Study Recruiting NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
18 Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Active, not recruiting NCT02651324 Phase 4 Ketamine
19 BIO4 Clinical Case Study: Cervical Spine Active, not recruiting NCT03077204 Phase 4
20 Bacterial Contamination: Iodine vs Saline Irrigation in Pediatric Spine Surgery Active, not recruiting NCT02527512 Phase 4 Povidone-Iodine
21 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
22 IV Lidocaine in Pediatric AIS Not yet recruiting NCT03893318 Phase 4 IV lidocaine;Placebos
23 Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
24 Posterior Spinal Fusion With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
25 Comparison of Actifuse ABX and Local Bone in Spinal Surgery Terminated NCT01852747 Phase 4
26 Efficacy of Using Solum IV and BMC With GFC in TLIF Withdrawn NCT03223701 Phase 4
27 Evaluation of Topical and Intravenous Tranexamic Acid in Surgical Treatment of Lumbar Degenerative Disease Unknown status NCT02496364 Phase 3 Placebo (Topical);Placebo (Intravenous);Tranexamic Acid (Topical);Tranexamic Acid (Intravenous)
28 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
29 Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01103115 Phase 3
30 Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3 Morphine
31 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
32 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
33 Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) 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 Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients Completed NCT03178708 Phase 2, Phase 3 Group A amantadine sulfate
36 The Effects of Fibrinogen Concentrate Infusion on Blood Loss and Allogeneic Blood Conservation in Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
37 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
38 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Recruiting NCT03537612 Phase 3 Clonidine
39 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Active, not recruiting NCT02285621 Phase 3
40 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Active, not recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
41 Gabapentin and Chronic Post Surgical Pain Not yet recruiting NCT03867240 Phase 3 Gabapentin
42 Surgical Treatment of Spinal Deformity With Sagittal Imbalance Using Patient-specific Rods: A Multicenter, Controlled, Double- Blind Randomized Trial: The PROFILE Study Not yet recruiting NCT02730507 Phase 3
43 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
44 The Use of Dermabond Versus Standard Staple for Wound Closure in Children With Neuromuscular Scoliosis Undergoing Spinal Deformity Correction Surgery Unknown status NCT01135940 Phase 2
45 Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
46 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
47 Comparison of the Efficacy of Ketamine in Pediatric Patients With Idiopathic Scoliosis After Surgery Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
48 Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis Completed NCT00273598 Phase 2
49 Methadone vs Magnesium in Spinal Fusion Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
50 Phase II Clinical Study of Thalidomide in the Treatment of Ankylosing Spondylitis Completed NCT02201043 Phase 2 Thalidomide 150mg;Thalidomide 100mg;Placebo

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 30

Anatomical Context for Scoliosis

MalaCards organs/tissues related to Scoliosis:

42
Bone, Testes, Spinal Cord, Skin, Brain, Heart, Skeletal Muscle

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 5562)
# Title Authors Year
1
A case of cardiac arrest due to air embolism during scoliosis surgery. ( 30955449 )
2019
2
The Pros and Cons of Operating Early Versus Late in the Progression of Cerebral Palsy Scoliosis. ( 31053320 )
2019
3
Surgeon and Caregiver Agreement on the Goals and Indications for Scoliosis Surgery in Children With Cerebral Palsy. ( 30660226 )
2019
4
Factors associated with surgical approach and outcomes in cerebral palsy scoliosis. ( 30143896 )
2019
5
Three Methods of Pelvic Fixation for Scoliosis in Children With Cerebral Palsy: Differences at 5-year Follow-Up. ( 29939974 )
2019
6
Animal Bites, Fall Risk, Croup, Scoliosis, Recurrent VTE, Postpartum Perineal Pain. ( 30633475 )
2019
7
Progressive Scoliosis in a Child with Cystic Fibrosis. ( 31093403 )
2019
8
Extent of Depression in Juvenile and Adolescent Idiopathic Scoliosis Patients during Treatment with Braces. ( 30703588 )
2019
9
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. ( 31015262 )
2019
10
Pathological thoracic spine scoliosis due to ganglioneuroma. ( 31033504 )
2019
11
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? ( 30218396 )
2019
12
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis. ( 30777921 )
2019
13
Clinical Relevance of Preoperative MRI in Adolescent Idiopathic Scoliosis: Is Hydromyelia a Predictive Factor of Intraoperative Electrophysiological Monitoring Alterations? ( 30913042 )
2019
14
Patients With Idiopathic Scoliosis Run an Increased Risk of Schizophrenia. ( 30660220 )
2019
15
Corrigendum to: Agreement Between Manual and Computerized Designation of Neutral Vertebra in Idiopathic Scoliosis [Spine Deformity 6/6 (2018) 644-650]. ( 30660240 )
2019
16
Accuracy of photogrammetry for detecting adolescent idiopathic scoliosis progression. ( 30661515 )
2019
17
Quantitative analysis of local bone graft harvested from the posterior elements during posterior spinal fusion in Adolescent Idiopathic Scoliosis patients. ( 30662243 )
2019
18
Surgical Outcomes of Anterior Versus Posterior Fusion in Lenke Type 1 Adolescent Idiopathic Scoliosis. ( 30664096 )
2019
19
Differential rod contouring on thoracolumbar/lumbar curvature in patients with adolescent idiopathic scoliosis: An analysis with intraoperative acquisition of three-dimensional imaging. ( 30683452 )
2019
20
Effect of Preoperative SpineCor® Treatment on Surgical Outcome in Idiopathic Scoliosis: An Observational Study. ( 30684354 )
2019
21
Postoperative Lumbar Curve Progression Deteriorates Shoulder Imbalance in Patients with Lenke Type 2B/C Adolescent Idiopathic Scoliosis Who Underwent Selective Thoracic Fusion. ( 30684704 )
2019
22
Anterior Spinal Overgrowth of the Thoracic Spine May Not Be Involved in the Initiation of Adolescent Idiopathic Scoliosis. ( 30685373 )
2019
23
Diurnal variation of body height in children with idiopathic scoliosis. ( 30689550 )
2019
24
Incidence and Risk Factors for Proximal Junctional Kyphosis in Adolescent Idiopathic Scoliosis After Correction Surgery: A Meta-Analysis. ( 30690145 )
2019
25
Manual therapy treatment for adolescent idiopathic scoliosis. ( 30691751 )
2019
26
Anatomical reference marks, evaluation parameters and reproducibility of surface topography for evaluating the adolescent idiopathic scoliosis: a systematic review with meta-analysis. ( 30708093 )
2019
27
Effect of thoracic kyphosis formation and rotational correction by direct vertebral rotation after the simultaneous double rod rotation technique for idiopathic scoliosis. ( 30711765 )
2019
28
A prospective analysis of motion and deformity at the shoulder level in surgically treated adolescent idiopathic scoliosis. ( 30721841 )
2019
29
Correction to: The "Risser+" grade: a new grading system to classify skeletal maturity in idiopathic scoliosis. ( 30725228 )
2019
30
Non-ionizing method of screening adolescent idiopathic scoliosis in schoolchildren. ( 30726384 )
2019
31
Incidence and Risk Factors of Cardiac Abnormalities in Patients with Idiopathic Scoliosis. ( 30738943 )
2019
32
Long-term follow-up after surgical treatment of adolescent idiopathic scoliosis using high-density pedicle screw constructs: Is 5-year routine visit required? ( 30741338 )
2019
33
Etiology of Adolescent Idiopathic Scoliosis: A Literature Review. ( 30744305 )
2019
34
A New Look at Causal Factors of Idiopathic Scoliosis: Altered Expression of Genes Controlling Chondroitin Sulfate Sulfation and Corresponding Changes in Protein Synthesis in Vertebral Body Growth Plates. ( 30745802 )
2019
35
Association between lay perception of morbidity and appropriateness of specialized health care use in Adolescent Idiopathic Scoliosis. ( 30756421 )
2019
36
Could the clinical effectiveness be improved under the integration of orthotic intervention and scoliosis specific exercise in managing adolescent idiopathic scoliosis? -A randomized controlled trial study. ( 30768449 )
2019
37
Increased acute postoperative wound problems following spinal fusion in overweight patients with adolescent idiopathic scoliosis. ( 30768579 )
2019
38
COMPARISON OF IMPLANT DENSITY IN THE MANAGEMENT OF LENKE 1B AND 1C ADOLESCENT IDIOPATHIC SCOLIOSIS. ( 30774527 )
2019
39
ROTATION ASSESSMENT IN ADOLESCENT IDIOPATHIC SCOLIOSIS WITH ROD DEROTATION. ( 30774529 )
2019
40
Can posterior implant removal prevent device-related vertebral osteopenia after posterior fusion in adolescent idiopathic scoliosis? A mean 29-year follow-up study. ( 30783802 )
2019
41
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis. ( 30787423 )
2019
42
Management of Adolescent Idiopathic Scoliosis: Institutional Experience, Integration into Neurosurgical Practice, and Impact on Resident Training. ( 30797921 )
2019
43
Progressive decline in pulmonary function 5 years post-operatively in patients who underwent anterior instrumentation for surgical correction of adolescent idiopathic scoliosis. ( 30798454 )
2019
44
Association between perioperative surgical home implementation and transfusion patterns in adolescents with idiopathic scoliosis undergoing spinal fusion. ( 30801879 )
2019
45
The Sagittal Thoracic Modifier Component of the Lenke Classification System in Moderate and Severe Adolescent Idiopathic Scoliosis: Reliability and Reproducibility of Measurements Among 5 Observers. ( 30807366 )
2019
46
Health-Related Quality of Life and Postural Changes of Spinal Alignment in Female Adolescents Associated with Back Pain in Adolescent Idiopathic Scoliosis - A Prospective Cross-Sectional Study. ( 30817729 )
2019
47
Development of a multibody model to assess efforts along the spine for the rehabilitation of adolescents with idiopathic scoliosis. ( 30839298 )
2019
48
Editor's Spotlight/Take 5: How Common Is Back Pain and What Biopsychosocial Factors Are Associated With Back Pain in Patients With Adolescent Idiopathic Scoliosis? ( 30844831 )
2019
49
Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions. ( 30845169 )
2019
50
Predicting lowest hemoglobin level and risk of blood transfusion in spinal fusion surgery for adolescent idiopathic scoliosis. ( 30848365 )
2019

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6 (show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh37 Chromosome 5, 148422281: 148422281
2 SH3TC2 NM_024577.3(SH3TC2): c.505T> C (p.Tyr169His) single nucleotide variant Conflicting interpretations of pathogenicity rs80359890 GRCh38 Chromosome 5, 149042718: 149042718
3 GDF3 NM_020634.2(GDF3): c.796C> T (p.Arg266Cys) single nucleotide variant Likely benign rs140926412 GRCh37 Chromosome 12, 7842773: 7842773
4 GDF3 NM_020634.2(GDF3): c.796C> T (p.Arg266Cys) single nucleotide variant Likely benign rs140926412 GRCh38 Chromosome 12, 7690177: 7690177
5 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh37 Chromosome 12, 112926873: 112926873
6 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh38 Chromosome 12, 112489069: 112489069
7 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh37 Chromosome X, 139586489: 139586491
8 SOX3 NM_005634.2(SOX3): c.735_737dupCGC (p.Ala248_Ser249insAla) duplication Uncertain significance rs398124211 GRCh38 Chromosome X, 140504324: 140504326
9 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 GRCh38 Chromosome 19, 38534775: 38534775
10 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 GRCh37 Chromosome 19, 39025415: 39025415
11 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh37 Chromosome 5, 176662864: 176662864
12 NSD1 NM_022455.4(NSD1): c.3839G> A (p.Trp1280Ter) single nucleotide variant Pathogenic rs587784105 GRCh38 Chromosome 5, 177235863: 177235863
13 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
14 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh38 Chromosome 5, 177283827: 177283827
15 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
16 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
17 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
18 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
19 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
20 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
21 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
22 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation Uncertain significance
23 46;X;inv(X)(q26q28)dn inversion Uncertain significance
24 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
25 46;XX;t(5;13)(q15;q32)dn Translocation Uncertain significance
26 46;XY;t(15;17)(q24;q21.3)dn Translocation Pathogenic
27 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
28 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
29 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
30 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
31 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
32 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh37 Chromosome 2, 179400322: 179400323
33 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh38 Chromosome 2, 178535595: 178535596
34 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
35 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh38 Chromosome 8, 60854479: 60854479
36 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh37 Chromosome 12, 48377895: 48377895
37 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh38 Chromosome 12, 47984112: 47984112
38 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742
39 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh37 Chromosome 15, 48722939: 48722939
40 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Pathogenic rs1057518789 GRCh38 Chromosome 16, 3728803: 3728803
41 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Pathogenic rs1057518789 GRCh37 Chromosome 16, 3778804: 3778804
42 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh37 Chromosome 17, 42988685: 42988685
43 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh38 Chromosome 17, 44911317: 44911317
44 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh37 Chromosome 19, 38959759: 38959759
45 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh38 Chromosome 19, 38469119: 38469119
46 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
47 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
48 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance rs1557176118 GRCh38 Chromosome X, 154353081: 154353081
49 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance rs1557176118 GRCh37 Chromosome X, 153581449: 153581449
50 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 GRCh38 Chromosome 9, 134835148: 134835148

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 COL1A1 COL1A2 COL2A1 FBN1
2 extracellular matrix GO:0031012 9.55 COL1A1 COL1A2 COL2A1 FBN1 FBN2
3 collagen trimer GO:0005581 9.5 COL1A1 COL1A2 COL2A1
4 I band GO:0031674 9.4 RYR1 TTN
5 collagen-containing extracellular matrix GO:0062023 9.35 COL1A1 COL1A2 COL2A1 FBN1 FBN2
6 microfibril GO:0001527 9.26 FBN1 FBN2
7 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.76 CREBBP DLL3 MESP2
2 platelet activation GO:0030168 9.75 COL1A1 COL1A2 PTPN11
3 ossification GO:0001503 9.74 COL1A1 COL2A1 MYF5
4 roof of mouth development GO:0060021 9.69 BNC2 CHD7 COL2A1
5 somitogenesis GO:0001756 9.63 DLL3 MESP2 MYF5
6 limb morphogenesis GO:0035108 9.6 COL2A1 FBN2
7 cartilage condensation GO:0001502 9.59 COL2A1 MYF5
8 blood vessel development GO:0001568 9.58 CHD7 COL1A1 COL1A2
9 protein heterotrimerization GO:0070208 9.56 COL1A1 COL1A2
10 embryonic eye morphogenesis GO:0048048 9.55 FBN1 FBN2
11 genitalia development GO:0048806 9.54 CHD7 PTPN11
12 heart morphogenesis GO:0003007 9.54 CHD7 COL2A1 MESP2
13 skin morphogenesis GO:0043589 9.52 COL1A1 COL1A2
14 collagen fibril organization GO:0030199 9.5 COL1A1 COL1A2 COL2A1
15 bone trabecula formation GO:0060346 9.49 COL1A1 FBN2
16 atrioventricular canal development GO:0036302 9.48 CHD7 PTPN11
17 camera-type eye development GO:0043010 9.46 CHD7 FBN1 FBN2 MYF5
18 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.43 COL1A1 COL2A1
19 extracellular matrix organization GO:0030198 9.43 COL1A1 COL1A2 COL2A1 FBN1 FBN2 MYF5
20 sequestering of TGFbeta in extracellular matrix GO:0035583 9.26 FBN1 FBN2
21 skeletal system development GO:0001501 9.1 CHD7 COL1A1 COL1A2 COL2A1 DLL3 FBN1

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

# Name GO ID Score Top Affiliating Genes
1 transcription coregulator activity GO:0003712 9.54 CREBBP MED13L NSD1
2 protease binding GO:0002020 9.46 COL1A1 COL1A2 RYR1 TTN
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.43 COL1A1 COL1A2 COL2A1
4 extracellular matrix constituent conferring elasticity GO:0030023 9.32 FBN1 FBN2
5 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL2A1
6 extracellular matrix structural constituent GO:0005201 9.02 COL1A1 COL1A2 COL2A1 FBN1 FBN2

Sources for Scoliosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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