MCID: SCL018
MIFTS: 58

Scoliosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 76 29 6 43 44 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
ICD10 33 M41 M41.9
MeSH 44 D012600
NCIt 50 C78603
SNOMED-CT 68 36773001
UMLS 73 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 spondylocostal dysostosis 3, autosomal recessive. An important gene associated with Scoliosis is FBN1 (Fibrillin 1), and among its related pathways/superpathways are Degradation of the extracellular matrix and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. The drugs Thrombin and Guaifenesin have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and spinal cord, and related phenotypes are behavior/neurological and cellular

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

Wikipedia : 76 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 554)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 34.2 BNC2 CHD7 COL1A2 FBN1 SNTG1
2 spondylocostal dysostosis 3, autosomal recessive 32.4 DLL3 MESP2
3 marfan syndrome 32.4 COL1A2 FBN1 FBN2
4 spondylocostal dysostosis 1, autosomal recessive 31.8 DLL3 MESP2
5 stiff skin syndrome 31.5 COL1A2 FBN1
6 myopathy, centronuclear, 2 31.4 RYR1 TTN
7 brittle bone disorder 30.8 COL1A1 COL1A2 COL2A1
8 hypermobile ehlers-danlos syndrome 30.3 COL1A1 FBN1
9 pectus carinatum 30.0 COL2A1 FBN1
10 spondyloepiphyseal dysplasia congenita 30.0 COL1A1 COL1A2 COL2A1
11 scoliosis, isolated 1 12.6
12 horizontal gaze palsy with progressive scoliosis 12.5
13 gaze palsy, familial horizontal, with progressive scoliosis, 1 12.4
14 scoliosis, isolated 3 12.3
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 12.2
21 gaze palsy, familial horizontal, with progressive scoliosis, 2 12.2
22 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.2
23 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.2
24 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.1
25 infantile scoliosis 12.1
26 scoliosis with unilateral unsegmented bar 12.1
27 spondylocarpotarsal synostosis syndrome 12.1
28 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 12.0
29 scoliosis, arachnodactyly, and blindness 12.0
30 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 11.9
31 opthalmoplegia progressive external scoliosis 11.9
32 syncamptodactyly scoliosis 11.9
33 duane anomaly-myopathy-scoliosis syndrome 11.9
34 steel syndrome 11.8
35 macs syndrome 11.8
36 epiphyseal chondrodysplasia, miura type 11.7
37 camptodactyly, tall stature, and hearing loss syndrome 11.5
38 shprintzen omphalocele syndrome 11.5
39 arthrogryposis, distal, type 4 11.5
40 friedreich ataxia 1 11.4
41 pilotto syndrome 11.4
42 spondylocostal dysostosis 5 11.4
43 spondyloepimetaphyseal dysplasia, strudwick type 11.3
44 rigid spine muscular dystrophy 1 11.3
45 dental anomalies and short stature 11.3
46 escobar syndrome, type b 11.3
47 rett syndrome 11.3
48 central core disease of muscle 11.2
49 proximal spinal muscular atrophy 11.2
50 myopathy, congenital 11.2

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 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 CHD7 COL1A1 COL1A2 COL2A1 DLL3 FBN1
2 cellular MP:0005384 10.3 CHD7 COL1A1 COL1A2 COL2A1 FBN1 FBN2
3 mortality/aging MP:0010768 10.3 BNC2 CHD7 COL1A1 COL1A2 COL2A1 DLL3
4 growth/size/body region MP:0005378 10.29 BNC2 CHD7 COL1A1 COL1A2 COL2A1 DLL3
5 cardiovascular system MP:0005385 10.28 CHD7 COL1A1 COL1A2 COL2A1 FBN1 FBN2
6 embryo MP:0005380 10.27 CHD7 COL1A1 COL2A1 DLL3 EXT2 FBN1
7 craniofacial MP:0005382 10.25 BNC2 CHD7 COL1A1 COL2A1 DLL3 FBN1
8 homeostasis/metabolism MP:0005376 10.21 CHD7 COL1A1 COL1A2 COL2A1 FBN1 FBN2
9 adipose tissue MP:0005375 10.16 CHD7 COL1A1 COL1A2 COL2A1 FBN1 MYF5
10 limbs/digits/tail MP:0005371 10.1 CHD7 COL1A1 COL1A2 COL2A1 DLL3 FBN1
11 muscle MP:0005369 10.1 CHD7 COL1A1 COL1A2 DLL3 FBN1 FBN2
12 hearing/vestibular/ear MP:0005377 10 CHD7 COL1A1 COL2A1 DLL3 FBN2 PTPN11
13 nervous system MP:0003631 9.96 CHD7 COL1A1 COL2A1 DLL3 FBN1 MESP2
14 skeleton MP:0005390 9.83 BNC2 CHD7 COL1A1 COL1A2 COL2A1 DLL3
15 respiratory system MP:0005388 9.81 CHD7 COL1A1 COL2A1 FBN1 FBN2 MYF5
16 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 176)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
3
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
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 2180-92-9, 38396-39-3 2474
6
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 57-27-2 5288826
7
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 113775-47-6 68602 5311068
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
11
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1,Not Applicable 60-32-2 564
12
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
13
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
14
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
15
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
16
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
17
Oxycodone Approved, Illicit, Investigational Phase 4,Not Applicable 76-42-6 5284603
18
Ibuprofen Approved Phase 4,Not Applicable 15687-27-1 3672
19
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
20
Cefazolin Approved Phase 4 25953-19-9 656510 33255
21
Cyclobenzaprine Approved Phase 4 303-53-7 2895
22
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
23
Acetaminophen Approved Phase 4 103-90-2 1983
24
Povidone Approved Phase 4 9003-39-8
25
Iodine Approved, Investigational Phase 4 7553-56-2 807
26
Povidone-iodine Approved Phase 4 25655-41-8
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 1406-16-2
28 Coagulants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Hemostatics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
31 Narcotics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
33 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Respiratory System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
35 Chlorpheniramine, phenylpropanolamine drug combination Phase 4,Phase 3,Phase 2,Phase 1
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 Anesthetics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
39 Antifibrinolytic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
40 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
41 Anesthetics, Local Phase 4,Not Applicable
42 Adrenergic alpha-Agonists Phase 4,Phase 3,Phase 1,Not Applicable
43 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
44 Adjuvants, Anesthesia Phase 4,Not Applicable
45 Psychotropic Drugs Phase 4,Phase 3
46 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 1
47 Anti-Anxiety Agents Phase 4,Phase 3
48 Adrenergic Agents Phase 4,Phase 3,Phase 1,Not Applicable
49 GABA Agents Phase 4,Phase 3
50 Hypnotics and Sedatives Phase 4,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 307)
# 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 Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
22 Posterior Spinal Fusion With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
23 Comparison of Actifuse ABX and Local Bone in Spinal Surgery Terminated NCT01852747 Phase 4
24 Efficacy of Using Solum IV and BMC With GFC in TLIF Withdrawn NCT03223701 Phase 4
25 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)
26 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
27 Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01103115 Phase 3
28 Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3 Morphine
29 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
30 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
31 Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01108211 Phase 3
32 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
33 Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients Completed NCT03178708 Phase 2, Phase 3 Group A amantadine sulfate
34 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
35 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
36 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Recruiting NCT03537612 Phase 3 Clonidine
37 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
38 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Active, not recruiting NCT02285621 Phase 3
39 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
40 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
41 Multicenter Schroth Exercise Trial for Scoliosis Unknown status NCT01610908 Phase 2
42 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
43 Value of 3D Modeling in Spine Surgery Unknown status NCT02771899 Phase 2
44 Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
45 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
46 Comparison of the Efficacy of Ketamine in Pediatric Patients With Idiopathic Scoliosis After Surgery Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
47 Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis Completed NCT00273598 Phase 2
48 Methadone vs Magnesium in Spinal Fusion Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
49 Phase II Clinical Study of Thalidomide in the Treatment of Ankylosing Spondylitis Completed NCT02201043 Phase 2 Thalidomide 150mg;Thalidomide 100mg;Placebo
50 The Role of VitD in Rehabilitation of Idiopathic Adolescent Scoliosis Recruiting NCT03582917 Phase 2 Alphacalcidol

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, Testes, Spinal Cord, Skin, Brain, Lung, Skeletal Muscle

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 2614)
# Title Authors Year
1
Cardiac Risk Factors and Complications After Spinal Fusion for Idiopathic Scoliosis in Children. ( 30527472 )
2019
2
Standardized traction versus side-bending radiographs in adolescent idiopathic scoliosis: a preliminary study. ( 30252796 )
2019
3
Costs and complications of increased length of stay following adolescent idiopathic scoliosis surgery. ( 30256316 )
2019
4
The effect of Cobb angle correction on spinal length gain in patients with adolescent idiopathic scoliosis. ( 29697489 )
2019
5
Does fusion to T2 compared with T3/T4 lead to improved shoulder balance in adolescent idiopathic scoliosis with a double thoracic curve? ( 29851712 )
2019
6
Unexpected higher blood loss associated with higher dose ε-aminocaproic acid in pediatric scoliosis surgery. ( 30199414 )
2019
7
Posterior hemivertebral resection for upper thoracic congenital scoliosis: be aware of high risk of complications. ( 30308554 )
2019
8
The effect of upper instrumented vertebra level on cervical sagittal alignment in Lenke 1 adolescent idiopathic scoliosis. ( 29933123 )
2018
9
Progressive Infantile Scoliosis Managed With Osteopathic Manipulative Treatment. ( 29946659 )
2018
10
Defining and Correcting Asymmetry in Isolated Unilateral Frontosphenoidal Synostosis: Differences in Orbital Shape, Facial Scoliosis, and Skullbase Twist Compared to Unilateral Coronal Synostosis. ( 29065043 )
2018
11
Treatment strategies for early-onset scoliosis. ( 29951268 )
2018
12
Vertebral Axial Asymmetry in Adolescent Idiopathic Scoliosis. ( 29413732 )
2018
13
Predictors of Deterioration in Sagittal Balance Following Long Fusion Arthrodesis to L5 in Patients with Adult Scoliosis. ( 29442100 )
2018
14
Increased Radiation but No Benefits in Pedicle Screw Accuracy With Navigation versus a Freehand Technique in Scoliosis Surgery. ( 29432262 )
2018
15
Evaluation of Renal Function in Children with Congenital Scoliosis and Congenital Anomalies of the Kidney and Urinary Tract. ( 29979645 )
2018
16
A National Analysis on Predictors of Discharge to Rehabilitation after Corrective Surgery for Adolescent Idiopathic Scoliosis. ( 29933335 )
2018
17
Dynamic ensemble selection of learner-descriptor classifiers to assess curve types in adolescent idiopathic scoliosis. ( 29949021 )
2018
18
Radiographic Methods to Estimate Surgical Outcomes based on Spinal Flexibility Assessment in Patients who have Adolescent Idiopathic Scoliosis: A Systematic Review. ( 29959103 )
2018
19
Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389797 )
2018
20
Clinical manifestations and radiological characteristics in patients with idiopathic syringomyelia and scoliosis. ( 29961133 )
2018
21
Accuracy of thoracic pedicle screw placement using freehand technique and triggered EMG in adolescent idiopathic scoliosis: Is it different between concave and convex side? ( 29954289 )
2018
22
Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. ( 29422531 )
2018
23
Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. ( 29669167 )
2018
24
Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis. ( 29480871 )
2018
25
2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. ( 29435499 )
2018
26
Effect of Posterior Fossa Decompression for Chiari Malformation-I on Scoliosis. ( 29298440 )
2018
27
Fulcrum flexibility of the main curve predicts postoperative shoulder imbalance in selective thoracic fusion of adolescent idiopathic scoliosis. ( 29931567 )
2018
28
Prevalence and impact of low body mass index on outcomes in patients with adolescent idiopathic scoliosis: a systematic review. ( 29434317 )
2018
29
Trunk rotation alters postural sway but not gait in female children and early adolescents: Results from a school-based screening for scoliosis. ( 29413801 )
2018
30
Minimally invasive, robot-assisted iliosacral screw insertion for fusionless fixation in children with neuromuscular scoliosis. ( 29963917 )
2018
31
Rasterstereography versus radiography for assessing shoulder balance in idiopathic scoliosis: A validation study relative to patients' self-image. ( 29945339 )
2018
32
Left Ventricular Mechanics Assessed by 2-dimensional Speckle Tracking Echocardiography in Children and Adolescents with Idiopathic Scoliosis: Errata. ( 29952877 )
2018
33
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. ( 29451154 )
2018
34
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology. ( 29930198 )
2018
35
Dose, image quality and spine modeling assessment of biplanar EOS micro-dose radiographs for the follow-up of in-brace adolescent idiopathic scoliosis patients. ( 29340779 )
2018
36
Surgical treatment for severe and rigid scoliosis: a case-matched study between idiopathic scoliosis and syringomyelia-associated scoliosis. ( 29800706 )
2018
37
Conservative management strategies and stress level in children and adolescents with idiopathic scoliosis. ( 29975372 )
2018
38
Ethnic Variation in Satisfaction and Appearance Concerns in Adolescents With Idiopathic Scoliosis Undergoing Posterior Spinal Fusion With Instrumentation. ( 29413737 )
2018
39
Shoulder Complex Mechanics in Adolescent Idiopathic Scoliosis and Their Relation to Patient-perceived Function. ( 29975295 )
2018
40
Perioperative complications after surgical treatment in degenerative adult de novo scoliosis. ( 29316936 )
2018
41
Proximal junctional kyphosis following correction surgery in the Lenke 5 adolescent idiopathic scoliosis patient. ( 29960823 )
2018
42
Validation Study of the Thumb Ossification Composite Index (TOCI) in Idiopathic Scoliosis: A Stage-to-Stage Correlation with Classic Tanner-Whitehouse and Sanders Simplified Skeletal Maturity Systems. ( 29975274 )
2018
43
Torsion bottle, a very simple, reliable, and cheap tool for a basic scoliosis screening. ( 29445775 )
2018
44
Sagittal plane assessment of spino-pelvic complex in a Central European population with adolescent idiopathic scoliosis: a case control study. ( 29942864 )
2018
45
Can bracing help adults with chronic back pain and scoliosis? Short-term results from a pilot study. ( 29446692 )
2018
46
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. ( 29401073 )
2018
47
Who Needs a Pediatric Intensive Care Unit After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis? ( 29413735 )
2018
48
Results of Casting in Severe Curves in Infantile Scoliosis. ( 29389719 )
2018
49
Patterns of coronal curve changes in forward bending posture: a 3D ultrasound study of adolescent idiopathic scoliosis patients. ( 29943198 )
2018
50
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. ( 29843650 )
2018

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6 (show all 45)
# 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 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 GRCh38 Chromosome 19, 38534775: 38534775
8 RYR1 NM_000540.2(RYR1): c.11315G> A (p.Arg3772Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs193922839 GRCh37 Chromosome 19, 39025415: 39025415
9 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
10 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh38 Chromosome 5, 177283827: 177283827
11 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
12 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
13 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
14 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
15 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
16 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
17 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
18 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
19 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh37 Chromosome 2, 179400322: 179400323
20 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh38 Chromosome 2, 178535595: 178535596
21 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
22 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh38 Chromosome 8, 60854479: 60854479
23 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh37 Chromosome 12, 48377895: 48377895
24 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh38 Chromosome 12, 47984112: 47984112
25 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742
26 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh37 Chromosome 15, 48722939: 48722939
27 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Likely pathogenic rs1057518789 GRCh38 Chromosome 16, 3728803: 3728803
28 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Likely pathogenic rs1057518789 GRCh37 Chromosome 16, 3778804: 3778804
29 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh37 Chromosome 17, 42988685: 42988685
30 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh38 Chromosome 17, 44911317: 44911317
31 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh37 Chromosome 19, 38959759: 38959759
32 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh38 Chromosome 19, 38469119: 38469119
33 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
34 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
35 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154353081: 154353081
36 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153581449: 153581449
37 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 GRCh38 Chromosome 9, 134835148: 134835148
38 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 GRCh37 Chromosome 9, 137726994: 137726994
39 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 13722907: 13722907
40 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 13569973: 13569973
41 ESRRG; GPATCH2; RRP15; SPATA17; TGFB2; USH2A GRCh37/hg19 1q41(chr1: 215829463-219225857) copy number loss Pathogenic GRCh37 Chromosome 1, 215829463: 219225857
42 MYF5 NM_005593.2(MYF5): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 81111125: 81111125
43 MYF5 NM_005593.2(MYF5): c.283C> T (p.Arg95Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 80717346: 80717346
44 MYF5 NM_005593.2(MYF5): c.23_32delAGTTCTCACC (p.Gln8Leufs) deletion Pathogenic GRCh37 Chromosome 12, 81110865: 81110874
45 MYF5 NM_005593.2(MYF5): c.23_32delAGTTCTCACC (p.Gln8Leufs) deletion Pathogenic GRCh38 Chromosome 12, 80717086: 80717095

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 sensory perception of sound GO:0007605 9.77 CHD7 COL1A1 COL2A1
2 platelet activation GO:0030168 9.75 COL1A1 COL1A2 PTPN11
3 roof of mouth development GO:0060021 9.7 BNC2 CHD7 COL2A1
4 somitogenesis GO:0001756 9.65 DLL3 MESP2 MYF5
5 blood vessel development GO:0001568 9.61 CHD7 COL1A1 COL1A2
6 limb morphogenesis GO:0035108 9.59 COL2A1 FBN2
7 cartilage condensation GO:0001502 9.58 COL2A1 MYF5
8 heart morphogenesis GO:0003007 9.58 CHD7 COL2A1 MESP2
9 protein heterotrimerization GO:0070208 9.57 COL1A1 COL1A2
10 embryonic eye morphogenesis GO:0048048 9.56 FBN1 FBN2
11 ossification GO:0001503 9.56 COL1A1 COL2A1 EXT2 MYF5
12 genitalia development GO:0048806 9.55 CHD7 PTPN11
13 skin morphogenesis GO:0043589 9.54 COL1A1 COL1A2
14 collagen fibril organization GO:0030199 9.54 COL1A1 COL1A2 COL2A1
15 bone trabecula formation GO:0060346 9.51 COL1A1 FBN2
16 atrioventricular canal development GO:0036302 9.49 CHD7 PTPN11
17 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 COL1A1 COL2A1
18 camera-type eye development GO:0043010 9.46 CHD7 FBN1 FBN2 MYF5
19 extracellular matrix organization GO:0030198 9.43 COL1A1 COL1A2 COL2A1 FBN1 FBN2 MYF5
20 sequestering of TGFbeta in extracellular matrix GO:0035583 9.32 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 calcium ion binding GO:0005509 9.77 DLL3 FBN1 FBN2 RYR1 TTN
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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