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MCID: SCL018
MIFTS: 55

Scoliosis

Categories: Bone diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Scoliosis

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MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 76 29 6 43 44 15

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0060249
ICD10 33 M41 M41.9
MeSH 44 D012600
NCIt 50 C78603
SNOMED-CT 68 298382003 36773001
UMLS 73 C0036439
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Summaries for Scoliosis

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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 Degradation of the extracellular matrix and ECM-receptor interaction. The drugs Thrombin and Tranexamic Acid have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, 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...

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Related Diseases for Scoliosis

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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 465)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 34.7 BNC2 CHD7 COL1A2 FBN1 SNTG1
2 marfan syndrome 33.1 COL1A2 FBN1 FBN2
3 spondylocostal dysostosis 3, autosomal recessive 32.9 DLL3 MESP2
4 spondylocostal dysostosis 1, autosomal recessive 32.3 DLL3 MESP2
5 stiff skin syndrome 31.8 COL1A2 FBN1
6 brittle bone disorder 31.2 COL1A1 COL1A2 COL2A1
7 pectus carinatum 30.9 COL2A1 FBN1
8 spondyloepiphyseal dysplasia congenita 30.8 COL1A1 COL1A2 COL2A1
9 multiminicore disease 30.6 MEGF10 RYR1
10 scoliosis, isolated 1 12.4
11 horizontal gaze palsy with progressive scoliosis 12.4
12 gaze palsy, familial horizontal, with progressive scoliosis, 1 12.2
13 scoliosis, isolated 3 12.2
14 radioulnar synostosis-microcephaly-scoliosis syndrome 12.1
15 seizures, scoliosis, and macrocephaly syndrome 12.1
16 scoliosis, isolated 4 12.1
17 scoliosis, isolated 5 12.1
18 acrodysplasia scoliosis 12.1
19 scoliosis, isolated 2 12.1
20 gaze palsy, familial horizontal, with progressive scoliosis, 2 12.1
21 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.0
22 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.0
23 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.9
24 infantile scoliosis 11.9
25 scoliosis with unilateral unsegmented bar 11.9
26 spondylocarpotarsal synostosis syndrome 11.9
27 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 11.9
28 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.8
29 scoliosis, arachnodactyly, and blindness 11.8
30 opthalmoplegia progressive external scoliosis 11.8
31 syncamptodactyly scoliosis 11.8
32 duane anomaly-myopathy-scoliosis syndrome 11.8
33 steel syndrome 11.7
34 macs syndrome 11.6
35 camptodactyly, tall stature, and hearing loss syndrome 11.4
36 shprintzen omphalocele syndrome 11.4
37 arthrogryposis, distal, type 4 11.4
38 epiphyseal chondrodysplasia, miura type 11.4
39 friedreich ataxia 1 11.3
40 pilotto syndrome 11.3
41 spondylocostal dysostosis 5 11.3
42 spondyloepimetaphyseal dysplasia, strudwick type 11.2
43 ehlers-danlos/osteogenesis imperfecta syndrome 11.1 COL1A1 COL1A2
44 rare isolated myopia 11.1 CHD7 COL2A1 FBN1
45 rigid spine muscular dystrophy 1 11.1
46 dental anomalies and short stature 11.1
47 escobar syndrome, type b 11.1
48 high bone mass osteogenesis imperfecta 11.1 COL1A1 COL1A2
49 rett syndrome 11.1
50 larsen-like syndrome 11.1 COL1A1 COL1A2

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis
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Symptoms & Phenotypes for Scoliosis

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MGI Mouse Phenotypes related to Scoliosis:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 CHD7 COL1A1 COL1A2 COL2A1 DLL3 FBN1
2 cellular MP:0005384 10.29 CHD7 COL1A1 COL1A2 COL2A1 FBN1 FBN2
3 mortality/aging MP:0010768 10.27 TTN BNC2 CHD7 COL1A1 COL1A2 COL2A1
4 cardiovascular system MP:0005385 10.26 PTPN11 RYR1 SH3TC2 TTN CHD7 COL1A1
5 growth/size/body region MP:0005378 10.23 BNC2 CHD7 COL1A1 COL1A2 COL2A1 DLL3
6 embryo MP:0005380 10.22 CHD7 COL1A1 COL2A1 DLL3 EXT2 FBN1
7 craniofacial MP:0005382 10.15 BNC2 CHD7 COL1A1 COL2A1 DLL3 FBN1
8 limbs/digits/tail MP:0005371 10.1 PTPN11 RYR1 CHD7 COL1A1 COL1A2 COL2A1
9 adipose tissue MP:0005375 10.09 CHD7 COL1A1 COL1A2 COL2A1 FBN1 PTPN11
10 muscle MP:0005369 10.06 CHD7 COL1A1 COL1A2 DLL3 FBN1 FBN2
11 nervous system MP:0003631 9.96 CHD7 COL1A1 COL2A1 DLL3 FBN1 MEGF10
12 hearing/vestibular/ear MP:0005377 9.91 CHD7 COL1A1 COL2A1 DLL3 PTPN11 ROBO3
13 skeleton MP:0005390 9.8 BNC2 CHD7 COL1A1 COL1A2 COL2A1 DLL3
14 respiratory system MP:0005388 9.76 ROBO3 RYR1 CHD7 COL1A1 COL2A1 FBN1
15 vision/eye MP:0005391 9.23 COL2A1 DLL3 FBN2 MEGF10 PTPN11 TTN
Sources

Drugs & Therapeutics for Scoliosis

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

(show top 50) (show all 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved, Investigational Phase 4
2
Tranexamic Acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 1197-18-8 5526
3
Menthol Approved Phase 4,Not Applicable 2216-51-5 16666
4
Bupivacaine Approved, Investigational Phase 4,Not Applicable 2180-92-9, 38396-39-3 2474
5
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 57-27-2 5288826
6
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 113775-47-6 68602 5311068
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
9
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
10
Aminocaproic Acid Approved, Investigational Phase 4,Phase 1,Not Applicable 60-32-2 564
11
Ketamine Approved, Vet_approved Phase 4,Phase 2 6740-88-1 3821
12
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 1,Not Applicable 2078-54-8 4943
13
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
14
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3 56-12-2 119
15
Guaifenesin Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
16
Methadone Approved Phase 4,Phase 3,Phase 2,Phase 1 76-99-3 4095
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
Iodine Approved, Investigational Phase 4 7553-56-2 807
21
Povidone Approved Phase 4 9003-39-8
22
Povidone-iodine Approved Phase 4 25655-41-8
23
Acetaminophen Approved Phase 4 103-90-2 1983
24
Cyclobenzaprine Approved Phase 4 303-53-7 2895
25
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
26
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 1406-16-2
27 Coagulants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
28 Hemostatics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Bone Density Conservation Agents Phase 4,Phase 3,Not Applicable
30 Antifibrinolytic Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
31 Hormones Phase 4,Not Applicable
32 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Not Applicable
33 Anesthetics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
34 Anesthetics, Local Phase 4,Not Applicable
35 Central Nervous System Depressants 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 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
38 Analgesics, Opioid Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
39 Narcotics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
40 Adjuvants, Anesthesia Phase 4,Not Applicable
41 Adrenergic Agents Phase 4,Phase 1,Not Applicable
42 Adrenergic Agonists Phase 4,Phase 1,Not Applicable
43 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 1
44 Adrenergic alpha-Agonists Phase 4,Phase 1,Not Applicable
45 Analgesics, Non-Narcotic Phase 4,Phase 2,Phase 3,Phase 1
46 Anesthetics, General Phase 4,Phase 1,Phase 2,Not Applicable
47 Anesthetics, Intravenous Phase 4,Phase 2,Phase 1,Not Applicable
48 Anti-Anxiety Agents Phase 4,Phase 3
49 GABA Agents Phase 4,Phase 3
50 GABA Modulators Phase 4

Interventional clinical trials:

(show top 50) (show all 279)
# 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 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
3 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
4 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
5 Effects of Dexmedetomidine on the Postoperative Experience in Children Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
6 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
7 Tranexamic Acid (TXA) Versus Epsilon Aminocaproic Acid (EACA) Versus Placebo for Spine Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
8 Low Dose Ketamine Study on Opioid Tolerance and Hyperalgesia Completed NCT01325493 Phase 4 Ketamine;Normal Saline
9 Blood Propofol Concentrations in Children During Spinal Surgery Completed NCT01932424 Phase 4 Propofol 2% (Diprivan 2%, Astra Zeneca UK)
10 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 DepoDurâ„¢
11 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin Completed NCT01977937 Phase 4 Gabapentin;Simple Syrup
12 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
13 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
14 A Trial Comparing Single Intra-op Dose of Methadone Versus Placebo in Patients Undergoing Spine Surgery Recruiting NCT02206685 Phase 4 Methadone;Normal Saline
15 Effect of Pregabalin on Immediate Post-operative and Longterm Pain Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
16 BIO4 Clinical Case Study: Cervical Spine Recruiting NCT03077204 Phase 4
17 Bacterial Contamination: Iodine vs Saline Irrigation in Pediatric Spine Surgery Recruiting NCT02527512 Phase 4 Povidone-Iodine
18 Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Active, not recruiting NCT02651324 Phase 4 Ketamine
19 Phase IV Comparing Rods of Yield Strengths to Correct Adolescent Idiopathic Scoliosis. Terminated NCT00768313 Phase 4
20 Posterior Spinal Fusion With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
21 Comparison of Actifuse ABX and Local Bone in Spinal Surgery Terminated NCT01852747 Phase 4
22 Efficacy of Using Solum IV and BMC With GFC in TLIF Withdrawn NCT03223701 Phase 4
23 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Unknown status NCT02285621 Phase 3
24 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)
25 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
26 Calcium + Vitamin D Supplementation for Low Bone Mass in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01103115 Phase 3
27 Effect of Early Morphine Administration on the Development of Acute Opioid Tolerance During Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3 Morphine
28 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
29 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
30 Improving Low Bone Mass With Vibration Therapy in Adolescent Idiopathic Scoliosis (AIS) Completed NCT01108211 Phase 3
31 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
32 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
33 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
34 Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients Recruiting NCT03178708 Phase 2, Phase 3 Group A amantadine sulfate
35 Evaluation of the Efficacy, Safety, and Tolerability of Sarizotan in Rett Syndrome With Respiratory Symptoms Recruiting NCT02790034 Phase 2, Phase 3 Sarizotan;Placebo
36 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Not yet recruiting NCT03537612 Phase 3 Clonidine
37 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
38 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
39 Multicenter Schroth Exercise Trial for Scoliosis Unknown status NCT01610908 Phase 2
40 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
41 Value of 3D Modeling in Spine Surgery Unknown status NCT02771899 Phase 2
42 Does Tranexamic Acid Decrease Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
43 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
44 Comparison of the Efficacy of Ketamine in Pediatric Patients With Idiopathic Scoliosis After Surgery Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
45 Comparing Two Instrumentation Systems for the Treatment of Adolescent Scoliosis Completed NCT00273598 Phase 2
46 Methadone vs Magnesium in Spinal Fusion Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
47 Phase II Clinical Study of Thalidomide in the Treatment of Ankylosing Spondylitis Completed NCT02201043 Phase 2 Thalidomide 150mg;Thalidomide 100mg;Placebo
48 Safety and Efficacy of SA4Ag Vaccine in Adults Having Elective Open Posterior Spinal Fusion Procedures With Multilevel Instrumentation Recruiting NCT02388165 Phase 2
49 Phase 2a Study on Allogeneic Osteoblastic Cells Implantation in Lumbar Spinal Fusion Active, not recruiting NCT02205138 Phase 2 ALLOB® cells with ceramic scaffold
50 Non-Idiopathic Scoliosis Treated With Tranexamic Acid Suspended NCT01089140 Phase 2 Tranexamic acid 10mg/kg/hr;Tranexamic acid 100 mg/kg/h infusion;Saline solution

Search NIH Clinical Center for Scoliosis

Cochrane evidence based reviews: scoliosis

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Genetic Tests for Scoliosis

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Genetic tests related to Scoliosis:

# Genetic test Affiliating Genes
1 Scoliosis 29
Sources

Anatomical Context for Scoliosis

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MalaCards organs/tissues related to Scoliosis:

41
Bone, Testes, Skin, Spinal Cord, Brain, Lung, Skeletal Muscle
Sources

Publications for Scoliosis

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Articles related to Scoliosis:

(show top 50) (show all 989)
# Title Authors Year
1
The effect of upper instrumented vertebra level on cervical sagittal alignment in Lenke 1 adolescent idiopathic scoliosis. ( 29933123 )
2018
2
Progressive Infantile Scoliosis Managed With Osteopathic Manipulative Treatment. ( 29946659 )
2018
3
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
4
Treatment strategies for early-onset scoliosis. ( 29951268 )
2018
5
Vertebral Axial Asymmetry in Adolescent Idiopathic Scoliosis. ( 29413732 )
2018
6
Predictors of Deterioration in Sagittal Balance Following Long Fusion Arthrodesis to L5 in Patients with Adult Scoliosis. ( 29442100 )
2018
7
Increased Radiation but No Benefits in Pedicle Screw Accuracy With Navigation versus a Freehand Technique in Scoliosis Surgery. ( 29432262 )
2018
8
Evaluation of Renal Function in Children with Congenital Scoliosis and Congenital Anomalies of the Kidney and Urinary Tract. ( 29979645 )
2018
9
A National Analysis on Predictors of Discharge to Rehabilitation after Corrective Surgery for Adolescent Idiopathic Scoliosis. ( 29933335 )
2018
10
Dynamic ensemble selection of learner-descriptor classifiers to assess curve types in adolescent idiopathic scoliosis. ( 29949021 )
2018
11
Radiographic Methods to Estimate Surgical Outcomes based on Spinal Flexibility Assessment in Patients who have Adolescent Idiopathic Scoliosis: A Systematic Review. ( 29959103 )
2018
12
Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389797 )
2018
13
Clinical manifestations and radiological characteristics in patients with idiopathic syringomyelia and scoliosis. ( 29961133 )
2018
14
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
15
Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. ( 29422531 )
2018
16
Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates. ( 29669167 )
2018
17
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
18
2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. ( 29435499 )
2018
19
Effect of Posterior Fossa Decompression for Chiari Malformation-I on Scoliosis. ( 29298440 )
2018
20
Fulcrum flexibility of the main curve predicts postoperative shoulder imbalance in selective thoracic fusion of adolescent idiopathic scoliosis. ( 29931567 )
2018
21
Prevalence and impact of low body mass index on outcomes in patients with adolescent idiopathic scoliosis: a systematic review. ( 29434317 )
2018
22
Trunk rotation alters postural sway but not gait in female children and early adolescents: Results from a school-based screening for scoliosis. ( 29413801 )
2018
23
Minimally invasive, robot-assisted iliosacral screw insertion for fusionless fixation in children with neuromuscular scoliosis. ( 29963917 )
2018
24
Rasterstereography versus radiography for assessing shoulder balance in idiopathic scoliosis: A validation study relative to patients' self-image. ( 29945339 )
2018
25
Left Ventricular Mechanics Assessed by 2-dimensional Speckle Tracking Echocardiography in Children and Adolescents with Idiopathic Scoliosis: Errata. ( 29952877 )
2018
26
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis. ( 29451154 )
2018
27
Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology. ( 29930198 )
2018
28
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
29
Surgical treatment for severe and rigid scoliosis: a case-matched study between idiopathic scoliosis and syringomyelia-associated scoliosis. ( 29800706 )
2018
30
Conservative management strategies and stress level in children and adolescents with idiopathic scoliosis. ( 29975372 )
2018
31
Ethnic Variation in Satisfaction and Appearance Concerns in Adolescents With Idiopathic Scoliosis Undergoing Posterior Spinal Fusion With Instrumentation. ( 29413737 )
2018
32
Shoulder Complex Mechanics in Adolescent Idiopathic Scoliosis and Their Relation to Patient-perceived Function. ( 29975295 )
2018
33
Perioperative complications after surgical treatment in degenerative adult de novo scoliosis. ( 29316936 )
2018
34
Proximal junctional kyphosis following correction surgery in the Lenke 5 adolescent idiopathic scoliosis patient. ( 29960823 )
2018
35
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
36
Torsion bottle, a very simple, reliable, and cheap tool for a basic scoliosis screening. ( 29445775 )
2018
37
Sagittal plane assessment of spino-pelvic complex in a Central European population with adolescent idiopathic scoliosis: a case control study. ( 29942864 )
2018
38
Can bracing help adults with chronic back pain and scoliosis? Short-term results from a pilot study. ( 29446692 )
2018
39
Growth Friendly Surgery and Serial Cast Correction in the Treatment of Early-onset Scoliosis for Patients With Prader-Willi Syndrome. ( 29401073 )
2018
40
Who Needs a Pediatric Intensive Care Unit After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis? ( 29413735 )
2018
41
Results of Casting in Severe Curves in Infantile Scoliosis. ( 29389719 )
2018
42
Patterns of coronal curve changes in forward bending posture: a 3D ultrasound study of adolescent idiopathic scoliosis patients. ( 29943198 )
2018
43
Horizontal gaze palsy with progressive scoliosis: a case report with magnetic resonance tractography and electrophysiological study. ( 29843650 )
2018
44
Increased PT/SS may play an important role in the pathogenesis of lumbar spondylolisthesis with degenerative lumbar scoliosis. ( 29358108 )
2018
45
Proximal junctional kyphosis in thoracic adolescent idiopathic scoliosis: risk factors and compensatory mechanisms in a multicenter national cohort. ( 29959554 )
2018
46
Criteria for Ending the Distal Fusion at the L3 Vertebra vs. L4 in Surgical Treatment of Adolescent Idiopathic Scoliosis Patients with Lenke Type 3C, 5C, and 6C Curves: Results After Ten Years of Follow-up. ( 29974019 )
2018
47
Supplementary Addendum to "Radiation dose of digital radiography (DR) versus micro-dose x-ray (EOS) on patients with adolescent idiopathic scoliosis: 2016 SOSORT- IRSSD "John Sevastic Award" Winner in Imaging Research". ( 29435497 )
2018
48
Analysis of sensory system aspects of postural stability during quiet standing in adolescent idiopathic scoliosis patients. ( 29929530 )
2018
49
LETTER TO THE EDITOR CONCERNING: Effectiveness of the Rigo ChA-neau versus Boston-style orthoses for adolescent idiopathicscoliosis: a retrospective study, by Minsk MK, Venuti KD, Daumit GL, Sponseller PD. Scoliosis Spinal Disord. 2017 Mar 20;12:7. ( 29435498 )
2018
50
Bone Mineral Density After Spinal Fusion Surgery for Adolescent Idiopathic Scoliosis at a Minimum 20-Year Follow-up. ( 29413740 )
2018
Sources

Variations for Scoliosis

About this section

ClinVar genetic disease variations for Scoliosis:

6
(show all 44)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh37 Chromosome 12, 112926873: 112926873
2 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 GRCh38 Chromosome 12, 112489069: 112489069
3 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh37 Chromosome 5, 176710828: 176710828
4 NSD1 NM_022455.4(NSD1): c.6050G> A (p.Arg2017Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587784177 GRCh38 Chromosome 5, 177283827: 177283827
5 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh37 Chromosome 15, 48712949: 48712949
6 FBN1 NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr) single nucleotide variant Pathogenic/Likely pathogenic rs727503054 GRCh38 Chromosome 15, 48420752: 48420752
7 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh38 Chromosome 9, 93447639: 93447639
8 FAM120AOS NM_198841.3(FAM120AOS): c.743C> T (p.Thr248Ile) single nucleotide variant Likely pathogenic rs140119177 GRCh37 Chromosome 9, 96209921: 96209921
9 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 12, 114971734: 114971744
10 MED13L t(12;19)(q24.21;q12) Translocation Pathogenic NCBI36 Chromosome 19, 35769937: 35769968
11 46;X;t(X;10)(p11.2;q24.3) Translocation Uncertain significance
12 46;XX;ins(1;2)(p34.2;q22q24)dn Translocation Uncertain significance
13 46;X;inv(X)(q26q28)dn inversion Uncertain significance
14 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
15 46;XX;t(5;13)(q15;q32)dn Translocation Uncertain significance
16 46;XY;t(15;17)(q24;q21.3)dn Translocation Pathogenic
17 46;XY;t(1;3)(p22;q21)dn Translocation Uncertain significance
18 46;XY;t(6;20)(p12;q13.1)dn Translocation Uncertain significance
19 46;XX;t(17;22)(q23;q12.2)dn Translocation Uncertain significance
20 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh37 Chromosome 1, 10363509: 10363509
21 KIF1B NM_015074.3(KIF1B): c.1977+6205C> T single nucleotide variant Uncertain significance rs771399291 GRCh38 Chromosome 1, 10303451: 10303451
22 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh37 Chromosome 2, 179400322: 179400322
23 TTN NM_001256850.1(TTN): c.96096_96097dupCA (p.Arg32033Thrfs) duplication Pathogenic/Likely pathogenic rs886041287 GRCh38 Chromosome 2, 178535595: 178535596
24 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh37 Chromosome 8, 61767038: 61767038
25 CHD7 NM_017780.3(CHD7): c.6892C> T (p.Gln2298Ter) single nucleotide variant Pathogenic rs1057518891 GRCh38 Chromosome 8, 60854479: 60854479
26 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh37 Chromosome 12, 48377895: 48377895
27 COL2A1 NM_001844.4(COL2A1): c.1916G> A (p.Gly639Asp) single nucleotide variant Likely pathogenic rs1057518908 GRCh38 Chromosome 12, 47984112: 47984112
28 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh38 Chromosome 15, 48430742: 48430742
29 FBN1 NM_000138.4(FBN1): c.6800A> T (p.Asn2267Ile) single nucleotide variant Pathogenic rs1057518812 GRCh37 Chromosome 15, 48722939: 48722939
30 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Likely pathogenic rs1057518789 GRCh38 Chromosome 16, 3728803: 3728803
31 CREBBP NM_004380.2(CREBBP): c.6244C> T (p.Gln2082Ter) single nucleotide variant Likely pathogenic rs1057518789 GRCh37 Chromosome 16, 3778804: 3778804
32 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh37 Chromosome 17, 42988685: 42988685
33 GFAP NM_002055.4(GFAP): c.1046A> C (p.Tyr349Ser) single nucleotide variant Likely pathogenic rs1057518828 GRCh38 Chromosome 17, 44911317: 44911317
34 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh37 Chromosome 19, 38959759: 38959759
35 RYR1 NM_000540.2(RYR1): c.3535C> T (p.Arg1179Trp) single nucleotide variant Likely pathogenic rs763944786 GRCh38 Chromosome 19, 38469119: 38469119
36 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh37 Chromosome X, 152037592: 152037592
37 NSDHL NM_001129765.1(NSDHL): c.1054C> G (p.Leu352Val) single nucleotide variant Uncertain significance rs142351862 GRCh38 Chromosome X, 152869048: 152869048
38 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 154353081: 154353081
39 FLNA NM_001456.3(FLNA): c.6122G> A (p.Arg2041His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 153581449: 153581449
40 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 GRCh38 Chromosome 9, 134835148: 134835148
41 COL5A1 NM_000093.4(COL5A1): c.5314G> A (p.Glu1772Lys) single nucleotide variant Uncertain significance rs759042440 GRCh37 Chromosome 9, 137726994: 137726994
42 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 13722907: 13722907
43 GRIN2B NM_000834.4(GRIN2B): c.2216T> G (p.Met739Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 13569973: 13569973
44 ESRRG; GPATCH2; RRP15; SPATA17; TGFB2; USH2A GRCh37/hg19 1q41(chr1: 215829463-219225857) copy number loss Pathogenic GRCh37 Chromosome 1, 215829463: 219225857
Sources

Expression for Scoliosis

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Search GEO for disease gene expression data for Scoliosis.
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Pathways for Scoliosis

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Pathways related to Scoliosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 66
Show member pathways
 12.21 COL1A1 COL1A2 COL2A1 FBN1 FBN2
2
ECM-receptor interaction 37
Show member pathways
 11.1 COL1A1 COL1A2 COL2A1 FBN1
3
Cell adhesion_ECM remodeling 22
10.92 COL1A1 COL1A2 COL2A1
4
VEGFR3 signaling in lymphatic endothelium 1
10.62 COL1A1 COL1A2
Sources

GO Terms for Scoliosis

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.62 COL1A1 COL1A2 COL2A1 FBN1
2 collagen trimer GO:0005581 9.43 COL1A1 COL1A2 COL2A1
3 extracellular matrix GO:0031012 9.35 COL1A1 COL1A2 COL2A1 FBN1 FBN2
4 microfibril GO:0001527 9.16 FBN1 FBN2
5 collagen type I trimer GO:0005584 8.62 COL1A1 COL1A2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.76 COL1A1 COL1A2 PTPN11
2 ossification GO:0001503 9.75 COL1A1 COL2A1 EXT2
3 roof of mouth development GO:0060021 9.73 BNC2 CHD7 COL2A1
4 collagen catabolic process GO:0030574 9.67 COL1A1 COL1A2 COL2A1
5 camera-type eye development GO:0043010 9.65 CHD7 FBN1 FBN2
6 blood vessel development GO:0001568 9.61 CHD7 COL1A1 COL1A2
7 limb morphogenesis GO:0035108 9.59 COL2A1 FBN2
8 protein heterotrimerization GO:0070208 9.57 COL1A1 COL1A2
9 embryonic eye morphogenesis GO:0048048 9.55 FBN1 FBN2
10 skin morphogenesis GO:0043589 9.54 COL1A1 COL1A2
11 heart morphogenesis GO:0003007 9.54 CHD7 COL2A1 MESP2
12 genitalia development GO:0048806 9.52 CHD7 PTPN11
13 bone trabecula formation GO:0060346 9.51 COL1A1 FBN2
14 collagen fibril organization GO:0030199 9.5 COL1A1 COL1A2 COL2A1
15 atrioventricular canal development GO:0036302 9.46 CHD7 PTPN11
16 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.4 COL1A1 COL2A1
17 extracellular matrix organization GO:0030198 9.35 COL1A1 COL1A2 COL2A1 FBN1 FBN2
18 regulation of cellular response to growth factor stimulus GO:0090287 9.26 FBN1 FBN2
19 sequestering of TGFbeta in extracellular matrix GO:0035583 9.16 FBN1 FBN2
20 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 protease binding GO:0002020 9.46 COL1A1 COL1A2 RYR1 TTN
2 Notch binding GO:0005112 9.32 DLL3 MEGF10
3 extracellular matrix constituent conferring elasticity GO:0030023 9.26 FBN1 FBN2
4 platelet-derived growth factor binding GO:0048407 9.13 COL1A1 COL1A2 COL2A1
5 extracellular matrix structural constituent GO:0005201 9.02 COL1A1 COL1A2 COL2A1 FBN1 FBN2
Sources

Sources for Scoliosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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