MCID: SCL018
MIFTS: 60

Scoliosis

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis

MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 12 74 29 6 42 43 15 17 32

Classifications:



External Ids:

Disease Ontology 12 DOID:0060249
MeSH 43 D012600
NCIt 49 C78603
SNOMED-CT 67 36773001
ICD10 32 M41 M41.9
UMLS 71 C0036439

Summaries for Scoliosis

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

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

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

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

Related Diseases for Scoliosis

Diseases in the Scoliosis family:

Infantile Scoliosis

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

(show top 50) (show all 1037)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 35.5 FBN1 COL1A2 CHD7 BNC2
2 marfan syndrome 33.6 FBN1 COL2A1 COL1A2 COL1A1
3 spinal stenosis 33.3 COL2A1 COL1A2 COL1A1
4 brittle bone disorder 33.3 FBN1 COL2A1 COL1A2 COL1A1
5 odontochondrodysplasia 33.2 COL2A1 COL1A2 COL1A1
6 sotos syndrome 1 33.0 TBX6 NSD1 NF1
7 stickler syndrome 32.7 FBN1 COL2A1 COL1A2 COL1A1
8 caffey disease 32.6 COL2A1 COL1A2 COL1A1
9 arthrochalasia ehlers-danlos syndrome 32.6 COL1A2 COL1A1
10 stiff skin syndrome 32.4 FBN1 COL1A2
11 hypermobile ehlers-danlos syndrome 31.4 FBN1 EFEMP1 COL1A1
12 tetralogy of fallot 31.2 PTPN11 FBN1 COL1A1 CHD7
13 patent ductus arteriosus 1 31.2 PTPN11 NSD1 FBN1 CHD7
14 atrial heart septal defect 31.2 TTN PTPN11 FBN1 CREBBP CHD7
15 inguinal hernia 31.1 TTN NF1 FBN1 EFEMP1 COL1A1
16 costello syndrome 30.9 PTPN11 NF1 FBN1
17 strabismus 30.9 TMCO1 ROBO3 NF1 MED13L COL2A1 CHD7
18 marden-walker syndrome 30.8 FBN1 EFEMP1
19 collagen disease 30.8 FBN1 COL1A2 COL1A1
20 pilomyxoid astrocytoma 30.8 NF1 COL2A1 COL1A1
21 pectus carinatum 30.7 NSD1 FBN1 CREBBP COL2A1
22 ganglioglioma 30.5 RELN NSD1 NF1
23 hypertelorism 30.3 PTPN11 NSD1 MED13L COL1A1
24 patent foramen ovale 29.9 PTPN11 NSD1 MED13L
25 scoliosis, isolated 1 12.8
26 horizontal gaze palsy with progressive scoliosis 12.7
27 seizures, scoliosis, and macrocephaly/microcephaly syndrome 12.6
28 scoliosis, isolated 3 12.6
29 gaze palsy, familial horizontal, with progressive scoliosis 1 12.5
30 scoliosis, isolated 4 12.5
31 scoliosis, isolated 5 12.5
32 scoliosis, isolated 2 12.5
33 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
34 myopathy, congenital, progressive, with scoliosis 12.4
35 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.4
36 acrodysplasia scoliosis 12.4
37 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.4
38 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
39 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.3
40 scoliosis, arachnodactyly, and blindness 12.3
41 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
42 infantile scoliosis 12.2
43 spondylocarpotarsal synostosis syndrome 12.2
44 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 12.2
45 macs syndrome 12.2
46 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 12.1
47 duane anomaly-myopathy-scoliosis syndrome 12.1
48 steel syndrome 12.0
49 camptodactyly, tall stature, and hearing loss syndrome 11.9
50 epiphyseal chondrodysplasia, miura type 11.8

Graphical network of the top 20 diseases related to Scoliosis:



Diseases related to Scoliosis

Symptoms & Phenotypes for Scoliosis

MGI Mouse Phenotypes related to Scoliosis:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.49 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
2 growth/size/body region MP:0005378 10.41 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
3 mortality/aging MP:0010768 10.41 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
4 cellular MP:0005384 10.39 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
5 cardiovascular system MP:0005385 10.36 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
6 homeostasis/metabolism MP:0005376 10.36 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
7 embryo MP:0005380 10.33 CHD7 COL1A1 COL2A1 CREBBP FBN1 MYF5
8 craniofacial MP:0005382 10.31 BNC2 CHD7 COL1A1 COL2A1 CREBBP FBN1
9 digestive/alimentary MP:0005381 10.26 BNC2 CHD7 COL1A1 COL2A1 CREBBP EFEMP1
10 adipose tissue MP:0005375 10.25 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
11 nervous system MP:0003631 10.22 CHD7 COL1A1 COL2A1 CREBBP FBN1 MYF5
12 muscle MP:0005369 10.21 CHD7 COL1A1 COL1A2 CREBBP EFEMP1 FBN1
13 limbs/digits/tail MP:0005371 10.13 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
14 integument MP:0010771 10.1 COL1A1 COL1A2 CREBBP EFEMP1 FBN1 NF1
15 normal MP:0002873 10.02 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1 MYF5
16 hearing/vestibular/ear MP:0005377 10 CHD7 COL1A1 COL2A1 NF1 PTPN11 ROBO3
17 reproductive system MP:0005389 9.91 CHD7 COL1A1 EFEMP1 FBN1 NF1 PTPN11
18 skeleton MP:0005390 9.83 BNC2 CHD7 COL1A1 COL1A2 COL2A1 CREBBP
19 respiratory system MP:0005388 9.81 CHD7 COL1A1 COL2A1 CREBBP FBN1 MYF5
20 pigmentation MP:0001186 9.72 COL1A1 EFEMP1 FBN1 NF1 PTPN11
21 vision/eye MP:0005391 9.28 CHD7 COL1A1 COL2A1 EFEMP1 MYF5 NF1

Drugs & Therapeutics for Scoliosis

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

(show top 50) (show all 232)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclobenzaprine Approved Phase 4 303-53-7 2895
2
Thrombin Approved, Investigational Phase 4
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
9
Acetaminophen Approved Phase 4 103-90-2 1983
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
12
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
13
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
14
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
15
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
16
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
17
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
18
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
19
Cefazolin Approved Phase 4 25953-19-9 656510 33255
20
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
21
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
22
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
23
Iodine Approved, Investigational Phase 4 7553-56-2 807
24
Povidone Approved Phase 4 9003-39-8
25
Povidone-iodine Approved Phase 4 25655-41-8
26
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
27
Sodium citrate Approved, Investigational Phase 4 68-04-2
28
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
29
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
30
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
31
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
32 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
33
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
34
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
35
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
36 Acetaminophen, hydrocodone drug combination Phase 4
37 Analgesics, Opioid Phase 4
38 Hemostatics Phase 4
39 Antifibrinolytic Agents Phase 4
40 Coagulants Phase 4
41 Analgesics Phase 4
42 Anesthetics Phase 4
43 Narcotics Phase 4
44 Anesthetics, Intravenous Phase 4
45 Hypnotics and Sedatives Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 GABA Agents Phase 4
48 Adjuvants, Anesthesia Phase 4
49 Anesthetics, General Phase 4
50 GABA Modulators Phase 4

Interventional clinical trials:

(show top 50) (show all 392)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Double-Blind, Controlled Trial Evaluating the Efficacy of Ketamine for Improvement in Postoperative Pain Control After Spinal Fusion for Idiopathic Scoliosis Unknown status NCT02651324 Phase 4 Ketamine
2 Effectiveness Of Gelatin Matrix With Human Derived Thrombin On Blood Loss, Surgical Time, Hospital Stay And Complications In Adolescents Undergoing Spine Surgery For Adolescent Idiopathic Scoliosis: A Randomized Clinical Trial. Unknown status NCT01451788 Phase 4
3 A Randomized Blinded Prospective Trial Comparing Single Intraoperative Dose of Methadone Versus Placebo in Pediatric Patients Undergoing Spine Surgery. Unknown status NCT02206685 Phase 4 Methadone;Normal Saline
4 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
5 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
6 Pain, Fentanyl Consumption, and Delirium in Children After Scoliosis Surgery: Dexmedetomidine Versus Midazolam Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
7 Modulation of μ Opioid Receptor Mediated Analgesia, Tolerance and Hyperalgesia in Children and Adolescents Completed NCT01325493 Phase 4 Ketamine;Normal Saline
8 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
9 Patient-controlled Intermittent Epidural Bolus Versus Epidural Infusion for Posterior Spinal Fusion After Adolescent Idiopathic Scoliosis Completed NCT02669004 Phase 4 Intermittent bolus epidural morphine;continuous epidural morphine
10 Comparison of Measured Versus Predicted Blood Propofol Concentrations During Total Intravenous Anaesthesia in Children Undergoing Spinal Surgery Completed NCT01932424 Phase 4 Propofol 2% (Diprivan 2%, Astra Zeneca UK)
11 A Prospective, Randomized, Double-blinded Single-site Control Study Comparing Blood Loss Prevention of Tranexamic Acid (TXA) to Epsilon Aminocaproic Acid (EACA) for Corrective Spinal Surgery Completed NCT00958581 Phase 4 Tranexamic Acid;Normal Saline;Epsilon aminocaproic acid
12 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
13 The Use of Intraoperative Intrathecal Morphine Versus Epidural Extended Release Morphine for Postoperative Pain Control in Pediatric Patients Undergoing Posterior Spinal Fusion Completed NCT00880607 Phase 4 DepoDur™
14 Tranexamic Acid Versus Novel Uterine Cooling Technique in Reducing Blood Loss and Incidence of Postpartum Hemorrhage at Caesarean Section Completed NCT02780245 Phase 4 Tranexamic Acid
15 Comparative Study For Role Of Different Prophylactic Doses Of Intravenous Tranexamic Acid In Reducing Blood Loss At Caesarean Section: A Randomised Controlled Trial Completed NCT02739815 Phase 4 Normal Saline containing a prophylactic Antibiotic 1 g;Tranexamic Acid
16 Assessment of the Efficacy of Forteo (Teriparatide) in Patients Undergoing Posterolateral Lumbar Spinal Fusion Completed NCT01292252 Phase 4
17 The Efficacy and Population Pharmacokinetics/ Pharmacogenomics of a Reduced Dose of Tranexamic Acid for Craniosynostosis Surgery Completed NCT02188576 Phase 4 high dose TXA;Low dose TXA
18 Is There a Relation Between Unilateral Epidural Block and Repeated Epidural Anesthesia? Completed NCT03806673 Phase 4 marcaine
19 Improvement in Pain, Function and Quality of Life With a Protocolized Exercise Program Compared With Non-steroidal Anti-inflammatory Analgesics in Patients With Subacute Low Back Pain in Medellín, Colombia, 2009-2010 Completed NCT01374269 Phase 4 NSAID (Nonsteroidal anti-inflammatory drugs)
20 Skeletal Muscle and Adipose Tissue Concentrations of Cefazolin Comparing Two Different Dosing Regimens During Pediatric Posterior Spinal Fusion Surgery Recruiting NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
21 Effect of Pregabalin on Immediate Post-operative and Longterm Pain and Spinal Cord Monitoring in Children Undergoing Instrumented Spinal Surgery. Recruiting NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
22 Intravenous Lidocaine to Reduce Postoperative Opioid Consumption and Improve Recovery After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Recruiting NCT03893318 Phase 4 IV lidocaine;Placebos
23 Bacterial Wound Contamination Prior to Closure: Povidone-Iodine Versus Saline Irrigation in Pediatric Spine Fusion Surgery Active, not recruiting NCT02527512 Phase 4 Povidone-Iodine
24 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
25 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
26 Perioperative Outcomes of Multilevel Posterior Spinal Fusion in Adolescent Scoliosis With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
27 Actifuse ABX and Local Bone Have Comparable Outcomes to Local Bone in Instrumented Multi-Level Adult Spinal Deformity Patients Terminated NCT01852747 Phase 4
28 A Multi-Centre Randomized Phase IV Clinical Trial Comparing Rods of Varying Yield Strengths and Their Ability to Hold Correction of Adolescent Idiopathic Scoliosis. Withdrawn NCT00768313 Phase 4
29 Topical and Intravenous Use of Tranexamic Acid in Posterior Lumbar Interbody Fusion - A Prospective, Double-blind, Randomized Study Unknown status NCT02496364 Phase 3 Placebo (Topical);Placebo (Intravenous);Tranexamic Acid (Topical);Tranexamic Acid (Intravenous)
30 Effect of Early Administration of Morphine on the Development of Acute Opioid Tolerance During Infusion of Remifentanil for Pediatric Scoliosis Surgery Completed NCT00737997 Phase 3 Morphine
31 Can Calcium and Vitamin D Supplementation Improve Bone Mineral Density and Curve Progression in Girls With Adolescent Idiopathic Scoliosis? Completed NCT01103115 Phase 3
32 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
33 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
34 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
35 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
36 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
37 The Implications of Amantadine Sulphate Usage in Spine Deformities Corrective Surgeries Patients as Regard Its Effect on the Duration of Wake up Test and Postoperative Opioid Consumption Completed NCT03178708 Phase 2, Phase 3 Group A amantadine sulfate
38 Does Tranexamic Acid Administration Reduce Blood Loss During Head and Neck Surgery? Completed NCT00147862 Phase 3 Tranexamic Acid
39 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
40 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
41 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Recruiting NCT03183479 Phase 3 Fibrinogen Concentrate Human;Normal saline
42 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
43 The Use of Perioperative Gabapentin in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis to Prevent Chronic Postsurgical Pain, a Pilot Study. Recruiting NCT03867240 Phase 3 Gabapentin
44 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Recruiting NCT03537612 Phase 3 Clonidine
45 Monocentric, Prospective Randomized Controlled Clinical Trial Assessing the Effect on the Lower Limb Spinal Motoneuron Excitability, the Efficacy in Term of Morphinic Sparing and Safety of of Early Clonidine Bolus Intravenous Administration During General Anesthesia in Children and Adolescent 6-18 Years Old Requesting Reconstructive Tympanic Surgery Recruiting NCT02592915 Phase 3 Clonidine hydrochloride
46 Validation of a New Generation of Optimized Orthoses for Personalized Treatment of Adolescent Idiopathic Scoliosis Active, not recruiting NCT02285621 Phase 3
47 Perioperative Multimodal Analgesia Including Intravenous Lidocaine Infusion for Pain Management Following Idiopathic Scoliosis Correction Surgery in Children Not yet recruiting NCT04069169 Phase 3 Lidocaine;Saline Solution
48 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
49 Medial-Wedge Insole is Highly Effective in the Treatment of Valgus Knee Osteoarthritis Terminated NCT00467337 Phase 3
50 The Use of Dermabond vs. Standard Staple for Wound Closure in Children With Neuromuscular Scoliosis Undergoing Spinal Deformity Correction Surgery: A Phase II Study Unknown status NCT01135940 Phase 2

Search NIH Clinical Center for Scoliosis

Cochrane evidence based reviews: scoliosis

Genetic Tests for Scoliosis

Genetic tests related to Scoliosis:

# Genetic test Affiliating Genes
1 Scoliosis 29

Anatomical Context for Scoliosis

MalaCards organs/tissues related to Scoliosis:

40
Bone, Spinal Cord, Testes, Lung, Heart, Brain, Skin

Publications for Scoliosis

Articles related to Scoliosis:

(show top 50) (show all 20143)
# Title Authors PMID Year
1
Are inferior facetectomies adequate and suitable for surgical treatment of adolescent idiopathic scoliosis? 61 42
31764829 2019
2
Underarm bracing for adolescent idiopathic scoliosis leads to flatback deformity: the role of sagittal spinopelvic parameters. 61 42
31674249 2019
3
Scoliosis in Non-Ambulatory Cerebral Palsy: Challenges and Management. 61 42
31713365 2019
4
Idiopathic scoliosis: A pilot MR study of early vertebral morphological changes and spinal asymmetry. 61
32025128 2020
5
Diseases of renal function and bone metabolism after treatment for early onset cancer: A registry-based study. 61
31523804 2020
6
High Satisfaction in Adolescent Idiopathic Scoliosis Patients on Enhanced Discharge Pathway. 61
31403990 2020
7
Fish response of metal bioaccumulation to reduced toxic load on long-term contaminated lake Imandra. 61
31954215 2020
8
Improving Health-related Quality of Life for Patients With Nonambulatory Cerebral Palsy: Who Stands to Gain From Scoliosis Surgery? 61
31306277 2020
9
Idiopathic Early-onset Scoliosis: Growing Rods Versus Vertically Expandable Prosthetic Titanium Ribs at 5-year Follow-up. 61
32028476 2020
10
Demonstration of asymmetric muscle perfusion of the back after exercise in patients with adolescent idiopathic scoliosis using intravoxel incoherent motion (IVIM) MRI. 61
31815323 2020
11
Is Anterior Release Obsolete or Does It Play a Role in Contemporary Adolescent Idiopathic Scoliosis Surgery? A Matched Pair Analysis. 61
31368923 2020
12
A Practical Study of Diagnostic Accuracy: Scoliosis Screenings of Middle School Students by a Trained Nurse With a Smartphone Versus a Spine Surgeon With a Scoliometer. 61
31568349 2020
13
Comparison of EOSQ-24 and SRS-22 Scores in Congenital Scoliosis: A Preliminary Study. 61
31157754 2020
14
The Influence of Body Habitus on Documented Brace Wear and Progression in Adolescents With Idiopathic Scoliosis. 61
31259783 2020
15
Is It Growth or Natural History? Increasing Spinal Deformity After Sanders Stage 7 in Females With AIS. 61
31181026 2020
16
Identification of novel FBN1 variations implicated in congenital scoliosis. 61
31827250 2020
17
SRS-22r legacy scores can be accurately translated to PROMIS scores in adult spinal deformity patients. 61
31525469 2020
18
Incidence of Surgical Site Infection After Spine Surgery: A Systematic Review and Meta-analysis. 61
31464972 2020
19
PIEZO2: A Novel Molecule Involved in the Development of AIS. 61
31513102 2020
20
A Retrospective Study to Compare the Efficacy of Preoperative Halo-Gravity Traction and Postoperative Halo-Femoral Traction After Posterior Spinal Release in Corrective Surgery for Severe Kyphoscoliosis. 61
32015301 2020
21
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 61
31401848 2020
22
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study. 61
31825148 2020
23
Clinical report: one year of treatment of Proteus syndrome with miransertib (ARQ 092). 61
32014856 2020
24
Embryotoxic and teratogenic profile of tretracycline at environmentally relevant concentrations on Cyprinus carpio. 61
31726589 2020
25
Patient-reported Outcomes Following Surgical Intervention for Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-Analysis. 61
30925497 2020
26
A Novel Coding Variant in SLC39A8 Is Associated With Adolescent Idiopathic Scoliosis in Chinese Han Population. 61
31513097 2020
27
Surface topography assessment of body shape after surgical correction in adolescent idiopathic scoliosis. 61
32030642 2020
28
Use of a novel corrective device for correction of deformities in adolescent idiopathic scoliosis. 61
31104287 2020
29
Patient-specific rods for thoracic kyphosis correction in adolescent idiopathic scoliosis surgery: Preliminary results. 61
31757655 2020
30
Fusions ending at the thoracolumbar junction in adolescent idiopathic scoliosis: comparison of lower instrumented vertebrae. 61
32026437 2020
31
Establishing consensus on the best practice guidelines for the use of bracing in adolescent idiopathic scoliosis. 61
32026441 2020
32
Supine flexibility predicts curve progression for patients with adolescent idiopathic scoliosis undergoing underarm bracing. 61
32009436 2020
33
Does Curve Regression Occur During Underarm Bracing in Patients with Adolescent Idiopathic Scoliosis? 61
31688210 2020
34
CORR Insights®: Does Curve Regression Occur During Underarm Bracing in Patients with Adolescent Idiopathic Scoliosis? 61
31794490 2020
35
What's Important: Moving Beyond "Idiopathic" in Adolescent Idiopathic Scoliosis. 61
31725121 2020
36
Rib Regeneration Morphology After Thoracoplasty in Adolescent Idiopathic Scoliosis. 61
31464973 2020
37
Towards a new 3D classification for adolescent idiopathic scoliosis. 61
32026444 2020
38
Wearable Sensor Array Design for Spine Posture Monitoring During Exercise Incorporating Biofeedback. 61
32031929 2020
39
A case of marked bilateral asymmetry in the sacral alae of the Neandertal specimen Regourdou 1 (Périgord, France). 61
31710710 2020
40
The Effect of Spinopelvic Parameters on the Development of Proximal Junctional Kyphosis in Early Onset: Mean 4.5-Year Follow-up. 61
32032219 2020
41
The effect of filum terminale sectioning for Chiari 1 malformation treatment: systematic review. 61
31598783 2020
42
Thoracolumbar kyphoscoliotic deformity with neurological impairment secondary to a butterfly vertebra in an adult. 61
32026439 2020
43
Aymé-Gripp Syndrome 61
32027476 2020
44
Analysis of the Functional and Radiological Outcomes of Lumbar Decompression without Fusion in Patients with Degenerative Lumbar Scoliosis. 61
31352722 2020
45
The Correlation of Spinopelvic Parameters With Biomechanical Parameters Measured by Gait and Balance Analyses in Patients With Adult Degenerative Scoliosis. 61
31996610 2020
46
Should instrumented spinal fusion in nonambulatory children with neuromuscular scoliosis be extended to L5 or the pelvis? 61
32009441 2020
47
Can Breast Asymmetry Following the Treatment of Juvenile Idiopathic Scoliosis with Growing Rod Be Prevented? : A Preliminary Analysis. 61
32024355 2020
48
Distraction-based surgeries increase thoracic sagittal spine length after ten lengthening surgeries for patients with idiopathic early-onset scoliosis. 61
32026442 2020
49
Changes in the Position of the Junctional Vertebrae After Posterior Spinal Fusion in Adolescent Idiopathic Scoliosis: Implication in Risk Assessment of Proximal Junctional Kyphosis Development. 61
31095012 2020
50
High Risk of Mismatch Between Sanders and Risser Staging in Adolescent Idiopathic Scoliosis: Are We Guiding Treatment Using the Wrong Classification? 61
31923164 2020

Variations for Scoliosis

ClinVar genetic disease variations for Scoliosis:

6 (show top 50) (show all 53) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN11 NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu)SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
2 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
3 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
4 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
5 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)SNV Pathogenic 374090 rs1057518891 8:61767038-61767038 8:60854479-60854479
6 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile)SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
7 CREBBP NM_001079846.1(CREBBP):c.6130C>T (p.Gln2044Ter)SNV Pathogenic 373943 rs1057518789 16:3778804-3778804 16:3728803-3728803
8 ESRRG , GPATCH2 , RRP15 , SPATA17 , TGFB2 , USH2A GRCh37/hg19 1q41(chr1:215829463-219225857)copy number loss Pathogenic 523271 1:215829463-219225857
9 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)SNV Pathogenic 523662 rs1565864693 12:81111125-81111125 12:80717346-80717346
10 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs)deletion Pathogenic 523663 rs1555216163 12:81110863-81110872 12:80717084-80717093
11 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
12 RELN NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly)SNV Pathogenic 684430 7:103163872-103163872 7:103523425-103523425
13 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)SNV Pathogenic 691885 2:56108772-56108772 2:55881637-55881637
14 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)deletion Pathogenic 691884 2:56144993-56144997 2:55917858-55917862
15 TBX6 NM_004608.3(TBX6):c.473_475dup (p.Glu159_Pro160insGly)duplication Pathogenic 694406 16:30100409-30100410 16:30089088-30089089
16 TBX6 NM_004608.3(TBX6):c.418C>T (p.Leu140Phe)SNV Pathogenic 694414 16:30100467-30100467 16:30089146-30089146
17 TBX6 NM_004608.3(TBX6):c.356G>A (p.Arg119His)SNV Pathogenic 694403 16:30100529-30100529 16:30089208-30089208
18 TTN NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)duplication Pathogenic/Likely pathogenic 279965 rs886041287 2:179400321-179400322 2:178535594-178535595
19 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
20 FBN1 NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
21 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
22 TBX6 NM_004608.3(TBX6):c.434C>T (p.Pro145Leu)SNV Likely pathogenic 188056 rs202193096 16:30100451-30100451 16:30089130-30089130
23 FGF14 NM_175929.2(FGF14):c.501dup (p.Arg168fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
24 GFAP NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser)SNV Likely pathogenic 374003 rs1057518828 17:42988685-42988685 17:44911317-44911317
25 RYR1 NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp)SNV Likely pathogenic 374168 rs763944786 19:38959759-38959759 19:38469119-38469119
26 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)SNV Likely pathogenic 374114 rs1057518908 12:48377895-48377895 12:47984112-47984112
27 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg)SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973
28 TBX6 NM_004608.3(TBX6):c.1133G>A (p.Arg378His)SNV Likely pathogenic 694413 16:30097724-30097724 16:30086403-30086403
29 TBX6 NM_004608.3(TBX6):c.424G>T (p.Asp142Tyr)SNV Likely pathogenic 694404 16:30100461-30100461 16:30089140-30089140
30 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
31 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
32 RYR1 NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln)SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
33 46;X;t(X;10)(p11.2;q24.3)Translocation Uncertain significance 267803
34 46;XX;ins(1;2)(p34.2;q22q24)dnTranslocation Uncertain significance 267806
35 46;X;inv(X)(q26q28)dninversion Uncertain significance 267819
36 46;XY;t(16;20)(q11.2;q13.2)dnTranslocation Uncertain significance 267820
37 46;XX;t(5;13)(q15;q32)dnTranslocation Uncertain significance 267824
38 46;XY;t(1;3)(p22;q21)dnTranslocation Uncertain significance 267862
39 46;XY;t(6;20)(p12;q13.1)dnTranslocation Uncertain significance 267920
40 46;XX;t(17;22)(q23;q12.2)dnTranslocation Uncertain significance 268011
41 KIF1B NM_015074.3(KIF1B):c.1977+6205C>TSNV Uncertain significance 279823 rs771399291 1:10363509-10363509 1:10303451-10303451
42 NSDHL NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val)SNV Uncertain significance 373975 rs142351862 X:152037592-152037592 X:152869048-152869048
43 FLNA NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)SNV Uncertain significance 492841 rs1557176118 X:153581449-153581449 X:154353081-154353081
44 COL5A1 NM_001278074.1(COL5A1):c.5314G>A (p.Glu1772Lys)SNV Uncertain significance 523327 rs759042440 9:137726994-137726994 9:134835148-134835148
45 POC5 NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro)SNV Uncertain significance 638595 5:74981076-74981076 5:75685251-75685251
46 TBX6 NM_004608.3(TBX6):c.1300C>T (p.Pro434Ser)SNV Uncertain significance 694412 16:30097557-30097557 16:30086236-30086236
47 TBX6 NM_004608.3(TBX6):c.1184G>A (p.Gly395Asp)SNV Uncertain significance 694411 16:30097673-30097673 16:30086352-30086352
48 TBX6 NM_004608.3(TBX6):c.1112C>T (p.Pro371Leu)SNV Uncertain significance 694410 16:30097745-30097745 16:30086424-30086424
49 TBX6 NM_004608.3(TBX6):c.929C>T (p.Pro310Leu)SNV Uncertain significance 694409 16:30098001-30098001 16:30086680-30086680
50 TBX6 NM_004608.3(TBX6):c.700G>C (p.Gly234Arg)SNV Uncertain significance 694408 16:30100082-30100082 16:30088761-30088761

Expression for Scoliosis

Search GEO for disease gene expression data for Scoliosis.

Pathways for Scoliosis

Pathways related to Scoliosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 FBN1 EFEMP1 CREBBP COL2A1 COL1A2 COL1A1
2
Show member pathways
12.21 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
3
Show member pathways
11.21 RELN FBN1 COL2A1 COL1A2 COL1A1
4 10.92 COL2A1 COL1A2 COL1A1
5 10.62 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1

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 9.62 FBN1 COL2A1 COL1A2 COL1A1
2 collagen-containing extracellular matrix GO:0062023 9.55 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
3 collagen trimer GO:0005581 9.43 COL2A1 COL1A2 COL1A1
4 extracellular matrix GO:0031012 9.1 RELN FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
5 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.72 PTPN11 COL1A2 COL1A1
2 ossification GO:0001503 9.71 MYF5 COL2A1 COL1A1
3 roof of mouth development GO:0060021 9.63 COL2A1 CHD7 BNC2
4 cartilage condensation GO:0001502 9.57 MYF5 COL2A1
5 myelination in peripheral nervous system GO:0022011 9.56 SH3TC2 NF1
6 camera-type eye development GO:0043010 9.56 MYF5 FBN1 EFEMP1 CHD7
7 skeletal system development GO:0001501 9.55 FBN1 COL2A1 COL1A2 COL1A1 CHD7
8 blood vessel development GO:0001568 9.54 COL1A2 COL1A1 CHD7
9 regulation of cell-matrix adhesion GO:0001952 9.52 NF1 MYF5
10 genitalia development GO:0048806 9.51 PTPN11 CHD7
11 embryonic eye morphogenesis GO:0048048 9.49 FBN1 EFEMP1
12 skin morphogenesis GO:0043589 9.48 COL1A2 COL1A1
13 atrioventricular canal development GO:0036302 9.43 PTPN11 CHD7
14 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.4 COL2A1 COL1A1
15 post-embryonic eye morphogenesis GO:0048050 9.32 FBN1 EFEMP1
16 collagen fibril organization GO:0030199 9.26 NF1 COL2A1 COL1A2 COL1A1
17 extracellular matrix organization GO:0030198 9.1 NF1 MYF5 FBN1 COL2A1 COL1A2 COL1A1

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.5 TTN COL1A2 COL1A1
2 transcription coregulator activity GO:0003712 9.43 NSD1 MED13L CREBBP
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL2A1 COL1A2 COL1A1
4 platelet-derived growth factor binding GO:0048407 9.13 COL2A1 COL1A2 COL1A1
5 extracellular matrix structural constituent GO:0005201 9.02 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1

Sources for Scoliosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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