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MCID: SCL018
MIFTS: 60

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 74 29 6 42 15 17 32

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0060249
NCIt 49 C78603
SNOMED-CT 67 298382003
ICD10 32 M41 M41.9
UMLS 71 C0036439
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Summaries for Scoliosis

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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 PI3K-Akt signaling 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 cellular

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...

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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 1062)
# Related Disease Score Top Affiliating Genes
1 idiopathic scoliosis 35.4 FBN1 COL1A2 CHD7
2 marfan syndrome 33.6 FBN1 COL2A1 COL1A2 COL1A1
3 odontochondrodysplasia 33.5 PTPN11 FGFR3 FBN1 COL2A1 COL1A2 COL1A1
4 brittle bone disorder 33.4 FGFR3 FBN1 COL2A1 COL1A2 COL1A1
5 spinal stenosis 33.3 COL2A1 COL1A2 COL1A1
6 sotos syndrome 1 33.0 TBX6 NSD1 CHD7
7 stickler syndrome 32.7 FBN1 COL2A1 COL1A2 COL1A1
8 caffey disease 32.6 COL2A1 COL1A2 COL1A1
9 kabuki syndrome 1 32.6 NSD1 FGFR3 CHD7
10 arthrochalasia ehlers-danlos syndrome 32.4 COL1A2 COL1A1
11 pectus excavatum 31.9 TMCO1 PTPN11 FGFR3 FBN1
12 hypermobile ehlers-danlos syndrome 31.5 FBN1 EFEMP1 COL1A1
13 orthostatic intolerance 31.5 FBN1 COL1A2 COL1A1
14 skeletal dysplasias 31.3 FGFR3 COL2A1
15 brachydactyly 31.3 FGFR3 FBN1 COL2A1 COL1A2
16 atrial heart septal defect 31.3 TTN PTPN11 FBN1 CREBBP CHD7
17 tetralogy of fallot 31.3 PTPN11 FBN1 COL1A1 CHD7
18 patent ductus arteriosus 1 31.2 PTPN11 FBN1 CHD7
19 achondroplasia 31.2 FGFR3 COL2A1 COL1A1
20 inguinal hernia 31.1 TTN FBN1 EFEMP1 COL1A1
21 myopia 31.1 FBN1 EFEMP1 COL2A1 COL1A1 CHD7
22 strabismus 31.0 TMCO1 SLC9A6 ROBO3 MED13L FGFR3 COL2A1
23 collagen disease 30.9 FBN1 COL2A1 COL1A2 COL1A1
24 pectus carinatum 30.8 NSD1 FBN1 CREBBP COL2A1
25 marden-walker syndrome 30.8 FBN1 EFEMP1
26 cleft palate, isolated 30.6 TMCO1 NSD1 FGFR3 COL2A1
27 patent foramen ovale 30.5 PTPN11 NSD1 MED13L FBN1
28 hypertelorism 30.3 PTPN11 NSD1 MED13L COL1A1
29 scoliosis, isolated 1 12.8
30 horizontal gaze palsy with progressive scoliosis 12.7
31 seizures, scoliosis, and macrocephaly/microcephaly syndrome 12.6
32 gaze palsy, familial horizontal, with progressive scoliosis 1 12.6
33 scoliosis, isolated 3 12.6
34 scoliosis, isolated 4 12.5
35 scoliosis, isolated 5 12.5
36 scoliosis, isolated 2 12.5
37 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
38 myopathy, congenital, progressive, with scoliosis 12.5
39 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.4
40 acrodysplasia scoliosis 12.4
41 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 12.4
42 camptodactyly-tall stature-scoliosis-hearing loss syndrome 12.4
43 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 12.4
44 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
45 scoliosis, arachnodactyly, and blindness 12.3
46 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 12.3
47 infantile scoliosis 12.2
48 spondylocarpotarsal synostosis syndrome 12.2
49 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation 12.2
50 macs syndrome 12.2

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:

45 (show all 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.46 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
2 cellular MP:0005384 10.38 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
3 growth/size/body region MP:0005378 10.37 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
4 homeostasis/metabolism MP:0005376 10.37 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
5 mortality/aging MP:0010768 10.36 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
6 adipose tissue MP:0005375 10.29 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
7 embryo MP:0005380 10.28 CHD7 COL1A1 COL2A1 CREBBP FBN1 MYF5
8 cardiovascular system MP:0005385 10.27 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
9 craniofacial MP:0005382 10.26 CHD7 COL1A1 COL2A1 CREBBP FBN1 FGFR3
10 immune system MP:0005387 10.26 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
11 nervous system MP:0003631 10.21 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
12 digestive/alimentary MP:0005381 10.2 CHD7 COL1A1 COL2A1 CREBBP EFEMP1 FGFR3
13 limbs/digits/tail MP:0005371 10.11 CHD7 COL1A1 COL1A2 COL2A1 CREBBP FBN1
14 muscle MP:0005369 10.1 CHD7 COL1A1 COL1A2 CREBBP EFEMP1 FBN1
15 hearing/vestibular/ear MP:0005377 10.05 CHD7 COL1A1 COL2A1 FGFR3 HARS1 PTPN11
16 normal MP:0002873 9.97 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1 FGFR3
17 reproductive system MP:0005389 9.91 CHD7 COL1A1 EFEMP1 FBN1 FGFR3 PTPN11
18 respiratory system MP:0005388 9.81 CHD7 COL1A1 COL2A1 CREBBP FBN1 FGFR3
19 skeleton MP:0005390 9.8 CHD7 COL1A1 COL1A2 COL2A1 CREBBP EFEMP1
20 vision/eye MP:0005391 9.32 CHD7 COL1A1 COL1A2 COL2A1 EFEMP1 FGFR3
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 224)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclobenzaprine Approved Phase 4 303-53-7 2895
2
Thrombin Approved, Investigational Phase 4
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
7
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Acetaminophen Approved Phase 4 103-90-2 1983
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
12
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
13
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
14
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
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
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
20
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
21
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
22
Cefazolin Approved Phase 4 25953-19-9 656510 33255
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
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
29
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
30
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
31
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
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
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
35 Acetaminophen, hydrocodone drug combination Phase 4
36 Analgesics, Opioid Phase 4
37 Hemostatics Phase 4
38 Antifibrinolytic Agents Phase 4
39 Coagulants Phase 4
40 Anesthetics Phase 4
41 Anesthetics, Intravenous Phase 4
42 Narcotics Phase 4
43 Analgesics Phase 4
44 Hypnotics and Sedatives Phase 4
45 Analgesics, Non-Narcotic Phase 4
46 Anesthetics, General Phase 4
47 GABA Modulators Phase 4
48 Excitatory Amino Acid Antagonists Phase 4
49 Anesthetics, Dissociative Phase 4
50 Anti-Bacterial Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 417)
# 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 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 Pain, Fentanyl Consumption, and Delirium in Children After Scoliosis Surgery: Dexmedetomidine Versus Midazolam Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
6 Modulation of μ Opioid Receptor Mediated Analgesia, Tolerance and Hyperalgesia in Children and Adolescents Completed NCT01325493 Phase 4 Ketamine;Normal Saline
7 The Effects of Fibrinogen Concentrate Infusion on Perioperative Blood Loss and Allogeneic Blood Conservation in Patients Undergoing Scoliosis Surgery Completed NCT03183479 Phase 4 Fibrinogen Concentrate Human;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 A Randomized Blinded Prospective Trial Comparing Single Intraoperative Dose of Methadone Versus Placebo in Pediatric Patients Undergoing Spine Surgery. Completed NCT02206685 Phase 4 Methadone;Normal Saline
11 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)
12 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
13 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
14 Assessment of the Efficacy of Forteo (Teriparatide) in Patients Undergoing Posterolateral Lumbar Spinal Fusion Completed NCT01292252 Phase 4
15 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
16 Comparative Study For Role Of Different Prophylactic Doses Of Intravenous Tranexamic Acid In Reducing Blood Loss At Caesarean Section: A Randomised Controlled Trial Completed NCT02739815 Phase 4 Normal Saline containing a prophylactic Antibiotic 1 g;Tranexamic Acid
17 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 Intrathecal morphine;Extended Release Epidural Morphine
18 Is There a Relation Between Unilateral Epidural Block and Repeated Epidural Anesthesia? Completed NCT03806673 Phase 4 marcaine
19 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
20 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)
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 Skeletal Muscle and Adipose Tissue Concentrations of Cefazolin Comparing Two Different Dosing Regimens During Pediatric Posterior Spinal Fusion Surgery Active, not recruiting NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
24 Bacterial Wound Contamination Prior to Closure: Povidone-Iodine Versus Saline Irrigation in Pediatric Spine Fusion Surgery Active, not recruiting NCT02527512 Phase 4 Povidone-Iodine
25 Dysport ® (abobotulinumtoxinA) as an Adjunctive Treatment to Bracing in the Management of Adolescent Idiopathic Scoliosis Not yet recruiting NCT03935295 Phase 4 AbobotulinumtoxinA;Placebos
26 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)
27 Perioperative Outcomes of Multilevel Posterior Spinal Fusion in Adolescent Scoliosis With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
28 Actifuse ABX and Local Bone Have Comparable Outcomes to Local Bone in Instrumented Multi-Level Adult Spinal Deformity Patients Terminated NCT01852747 Phase 4
29 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
30 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)
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 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
33 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
34 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
35 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
36 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
37 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
38 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
39 Does Tranexamic Acid Administration Reduce Blood Loss During Head and Neck Surgery? Completed NCT00147862 Phase 3 Tranexamic Acid
40 The Effects of Bronchodilator Therapy On Respiratory and Autonomic Function in Patients With Familial Dysautonomia Completed NCT01987219 Phase 3 Albuterol-sulphate;Ipratropium-bromide
41 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
42 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Recruiting NCT02558010 Phase 3 Methadone;Morphine
43 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Recruiting NCT03537612 Phase 3 Clonidine
44 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
45 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
46 Does Teicoplanin Powder Use In Lumbar Instrumentation Surgery Reduce Surgical Site Infection Not yet recruiting NCT04341831 Phase 3 Teicoplanin
47 The Use of Perioperative Gabapentin in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis to Prevent Chronic Postsurgical Pain, a Pilot Study. Suspended NCT03867240 Phase 3 Gabapentin
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

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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:

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

Publications for Scoliosis

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Articles related to Scoliosis:

(show top 50) (show all 20642)
# Title Authors PMID Year
1
Limited correction of lumbar lordosis in the treatment of degenerative scoliosis. 42 61
32384425 2020
2
Posterior Correction of Adolescent Idiopathic Scoliosis with High-Density Pedicle Screw-Only Constructs: 5 Years of Follow-Up. 61 42
32233175 2020
3
Clinical and radiological outcomes of minimally-invasive surgery for adolescent idiopathic scoliosis at a minimum two years' follow-up. 42 61
32228081 2020
4
Bilateral optic disc pits in a pediatric patient with Cobb syndrome. 61
32518855 2020
5
Biallelic variants in four genes underlying recessive osteogenesis imperfecta. 61
32413570 2020
6
The Effect of Spinopelvic Parameters on the Development of Proximal Junctional Kyphosis in Early Onset: Mean 4.5-Year Follow-up. 61
32501899 2020
7
In vivo deformation of the spine canal before and after surgical corrections of severe and rigid kyphoscoliosis. 61
32514391 2020
8
Changes in Cervical Spinal Alignment After Thoracolumbar Corrective Surgery in Adult Patients With Adolescent Idiopathic Scoliosis. 61
32539290 2020
9
Blood and fluid management during scoliosis surgery: a single-center retrospective analysis. 61
32016528 2020
10
Elevated Serum Titanium Levels in Children With Early Onset Scoliosis Treated With Growth-friendly Instrumentation. 61
32501902 2020
11
Does spinal fusion influence vestibular information in scoliosis patients? Unstable equilibrium analysis. 61
32467656 2020
12
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants. 61
32480058 2020
13
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. 61
32291752 2020
14
Multilevel extended posterior column osteotomy plus unilateral cage strutting for degenerative lumbar kyphoscoliosis. 61
32440815 2020
15
KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations. 61
32369272 2020
16
Scoliosis after thoracotomy repair of esophageal atresia: a systematic review. 61
32451635 2020
17
Early Results of a Management Algorithm for Collapsing Spine Deformity in Young Children (Below 10-Year Old) With Spinal Muscular Atrophy Type II. 61
32501901 2020
18
Bronchus Intermedius Compression from Idiopathic Thoracic Scoliosis. 61
32550681 2020
19
Computed-tomography-guided transforaminal intrathecal nusinersen injection in adults with spinal muscular atrophy type 2 and severe spinal deformity. Feasibility, safety and radiation exposure considerations. 61
32250518 2020
20
Group-based Trajectory Modeling: A Novel Approach to Classifying Discriminative Functional Status Following Adult Spinal Deformity Surgery: Study of a 3-year Follow-up Group. 61
32049931 2020
21
Feasibility of Proxy-Reported EQ-5D-3L-Y and Its Agreement in Self-reported EQ-5D-3L-Y for Patients With Adolescent Idiopathic Scoliosis. 61
32539293 2020
22
Etiology-Based Classification of Adjacent Segment Disease Following Lumbar Spine Fusion. 61
32523480 2020
23
Response to: 'Fentanyl versus remifentanil-based TIVA for pediatric scoliosis repair: does it matter?' by Kars et al. 61
32114484 2020
24
Assessment of the association between paraspinal muscle degeneration and quality of life in patients with degenerative lumbar scoliosis. 61
32509021 2020
25
VEPTR Treatment of Early Onset Scoliosis in Children Without Rib Abnormalities: Long-term Results of a Prospective, Multicenter Study. 61
32501900 2020
26
Is the Cranial Sagittal Vertical Axis (Cr-SVA) a Better Midterm Predictor of Clinical Results Than C7-SVA in Adult Patients Operated on Spinal Deformity After a Minimum 2-Year Follow-Up? 61
32568865 2020
27
Relationship of the Character of Rod Fractures on Outcomes Following Long Thoracolumbar Fusion to the Sacrum for Adult Spinal Deformity. 61
32502653 2020
28
[The mono- and multisegmental ventral minimally invasive approach to the lumbar spine (OLIF) in lumbar deformities]. 61
32179943 2020
29
Incidence of spinal deformities and the relationship with physical status and back pain in ambulant adults with cerebral palsy and spastic diplegia. 61
31797136 2020
30
Active Apex Correction With Guided Growth Technique for Controlling Spinal Deformity in Growing Children: A Modified SHILLA Technique. 61
32435564 2020
31
Visual Verticality Perception in Spinal Diseases: A Systematic Review and Meta-Analysis. 61
32503240 2020
32
Piezo2 expressed in proprioceptive neurons is essential for skeletal integrity. 61
32576830 2020
33
Notochordal Signals Establish Phylogenetic Identity of the Teleost Spine. 61
32559448 2020
34
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
35
AICA-ribosiduria due to ATIC deficiency: delineation of the phenotype with three novel cases, and long-term update on the first case. 61
32557644 2020
36
An unusual diagnosis for an usual test. 61
32522262 2020
37
Fibrodysplasia Ossificans Progressiva 61
32525643 2020
38
Refining critical regions in 15q24 microdeletion syndrome pertaining to autism. 61
31953991 2020
39
Scoliosis Associated with Proteus Syndrome: Report of 2 Cases and Review of the Literature. 61
32194267 2020
40
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis. 61
32381728 2020
41
Correction to: Opioid prescribing practices after posterior spinal arthrodesis for adolescent idiopathic scoliosis. 61
32533546 2020
42
What Constitutes Shoulder Imbalance in Adolescent Idiopathic Scoliosis? Aesthetic Threshold for Surgical Correction. 61
32234356 2020
43
Altered physiology of mesenchymal stem cells in the pathogenesis of adolescent idiopathic scoliosis. 61
32548139 2020
44
Upregulation of cGMP-dependent Protein Kinase (PRKG1) in the Development of Adolescent Idiopathic Scoliosis. 61
32558266 2020
45
Operative time in adolescent idiopathic scoliosis surgery: a need for a standard definition. 61
32558776 2020
46
Introduction of the Novel Radiographic Line (L5-Kyphosis Apex Line) Intended to Evaluate Scheuermann's Disease and Postural Kyphosis Progression on Standard Lateral X-Rays. 61
31940713 2020
47
Does bracing for adolescent idiopathic scoliosis affect operative results? 61
32291582 2020
48
Towards a new 3D classification for adolescent idiopathic scoliosis. 61
32026444 2020
49
Prevalence of adolescent idiopathic scoliosis in Turkey: an epidemiological study. 61
31972303 2020
50
Predictors of cost for posterior spinal fusion in adolescent idiopathic scoliosis. 61
32096128 2020
Sources

Variations for Scoliosis

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ClinVar genetic disease variations for Scoliosis:

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ESRRG , GPATCH2 , RRP15 , SPATA17 , TGFB2 , USH2A GRCh37/hg19 1q41(chr1:215829463-219225857)copy number loss Pathogenic 523271 1:215829463-219225857
2 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)SNV Pathogenic 523662 rs1565864693 12:81111125-81111125 12:80717346-80717346
3 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs)deletion Pathogenic 523663 rs1555216163 12:81110863-81110872 12:80717084-80717093
4 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
5 SLC9A6 NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs)deletion Pathogenic 418996 rs1064793575 X:135098865-135098866 X:136016706-136016707
6 RELN NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly)SNV Pathogenic 684430 7:103163872-103163872 7:103523425-103523425
7 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)SNV Pathogenic 691885 2:56108772-56108772 2:55881637-55881637
8 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)deletion Pathogenic 691884 2:56144993-56144997 2:55917858-55917862
9 TBX6 NM_004608.3(TBX6):c.473_475dup (p.Glu159_Pro160insGly)duplication Pathogenic 694406 16:30100409-30100410 16:30089088-30089089
10 TBX6 NM_004608.3(TBX6):c.418C>T (p.Leu140Phe)SNV Pathogenic 694414 16:30100467-30100467 16:30089146-30089146
11 TBX6 NM_004608.3(TBX6):c.356G>A (p.Arg119His)SNV Pathogenic 694403 16:30100529-30100529 16:30089208-30089208
12 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)SNV Pathogenic 804288 5:140054329-140054329 5:140674744-140674744
13 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)duplication Pathogenic 804287 5:140056612-140056613 5:140677027-140677028
14 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
15 MED13L t(12;19)(q24.21;q12)Translocation Pathogenic 218934
16 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
17 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
18 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter)SNV Pathogenic 374090 rs1057518891 8:61767038-61767038 8:60854479-60854479
19 FBN1 NM_000138.4(FBN1):c.6800A>T (p.Asn2267Ile)SNV Pathogenic 373981 rs1057518812 15:48722939-48722939 15:48430742-48430742
20 CREBBP NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)SNV Pathogenic 373943 rs1057518789 16:3778804-3778804 16:3728803-3728803
21 TTN NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs)duplication Pathogenic/Likely pathogenic 279965 rs886041287 2:179400321-179400322 2:178535594-178535595
22 NSD1 NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln)SNV Pathogenic/Likely pathogenic 159398 rs587784177 5:176710828-176710828 5:177283827-177283827
23 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)SNV Pathogenic/Likely pathogenic 163462 rs727503054 15:48712949-48712949 15:48420752-48420752
24 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile)SNV Likely pathogenic 183343 rs140119177 9:96209921-96209921 9:93447639-93447639
25 TBX6 NM_004608.3(TBX6):c.434C>T (p.Pro145Leu)SNV Likely pathogenic 188056 rs202193096 16:30100451-30100451 16:30089130-30089130
26 GRIN2B NM_000834.4(GRIN2B):c.2216T>G (p.Met739Arg)SNV Likely pathogenic 523381 rs1555103652 12:13722907-13722907 12:13569973-13569973
27 TBX6 NM_004608.3(TBX6):c.424G>T (p.Asp142Tyr)SNV Likely pathogenic 694404 16:30100461-30100461 16:30089140-30089140
28 TBX6 NM_004608.3(TBX6):c.1133G>A (p.Arg378His)SNV Likely pathogenic 694413 16:30097724-30097724 16:30086403-30086403
29 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
30 GFAP NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser)SNV Likely pathogenic 374003 rs1057518828 17:42988685-42988685 17:44911317-44911317
31 RYR1 NM_000540.2(RYR1):c.3535C>T (p.Arg1179Trp)SNV Likely pathogenic 374168 rs763944786 19:38959759-38959759 19:38469119-38469119
32 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp)SNV Likely pathogenic 374114 rs1057518908 12:48377895-48377895 12:47984112-47984112
33 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
34 RYR1 NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln)SNV Conflicting interpretations of pathogenicity 133012 rs193922839 19:39025415-39025415 19:38534775-38534775
35 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter)SNV Conflicting interpretations of pathogenicity 684727 1:150769360-150769360 1:150796884-150796884
36 SH3TC2 NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His)SNV Conflicting interpretations of pathogenicity 2485 rs80359890 5:148422281-148422281 5:149042718-149042718
37 GDF3 NM_020634.3(GDF3):c.796C>T (p.Arg266Cys)SNV Conflicting interpretations of pathogenicity 30591 rs140926412 12:7842773-7842773 12:7690177-7690177
38 TBX6 NM_004608.3(TBX6):c.440A>T (p.Asp147Val)SNV Uncertain significance 694405 16:30100445-30100445 16:30089124-30089124
39 46;X;t(X;10)(p11.2;q24.3)Translocation Uncertain significance 267803
40 46;XX;ins(1;2)(p34.2;q22q24)dnTranslocation Uncertain significance 267806
41 46;X;inv(X)(q26q28)dninversion Uncertain significance 267819
42 46;XY;t(16;20)(q11.2;q13.2)dnTranslocation Uncertain significance 267820
43 46;XX;t(5;13)(q15;q32)dnTranslocation Uncertain significance 267824
44 FLNA NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)SNV Uncertain significance 492841 rs1557176118 X:153581449-153581449 X:154353081-154353081
45 COL5A1 NM_001278074.1(COL5A1):c.5314G>A (p.Glu1772Lys)SNV Uncertain significance 523327 rs759042440 9:137726994-137726994 9:134835148-134835148
46 POC5 NM_001099271.2(POC5):c.1363G>C (p.Ala455Pro)SNV Uncertain significance 638595 5:74981076-74981076 5:75685251-75685251
47 TBX6 NM_004608.3(TBX6):c.1112C>T (p.Pro371Leu)SNV Uncertain significance 694410 16:30097745-30097745 16:30086424-30086424
48 TBX6 NM_004608.3(TBX6):c.929C>T (p.Pro310Leu)SNV Uncertain significance 694409 16:30098001-30098001 16:30086680-30086680
49 TBX6 NM_004608.3(TBX6):c.499C>T (p.Arg167Cys)SNV Uncertain significance 694407 16:30100386-30100386 16:30089065-30089065
50 TBX6 NM_004608.3(TBX6):c.700G>C (p.Gly234Arg)SNV Uncertain significance 694408 16:30100082-30100082 16:30088761-30088761
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
PI3K-Akt signaling pathway 36
Show member pathways
 12.57 RELN FGFR3 CREBBP COL2A1 COL1A2 COL1A1
2
Degradation of the extracellular matrix 65
Show member pathways
 12.42 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
3
Phospholipase-C Pathway 63
Show member pathways
 12.39 FGFR3 FBN1 EFEMP1 CREBBP COL2A1 COL1A2
4
Neural Crest Differentiation 1
11.59 TBX6 FGFR3 COL2A1
5
Cell adhesion_ECM remodeling 22
11.28 COL2A1 COL1A2 COL1A1
6
ECM-receptor interaction 36
Show member pathways
 11.21 RELN FBN1 COL2A1 COL1A2 COL1A1
7
G-protein signaling_Rap2B regulation pathway 22
10.54 FGFR3 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
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 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 16)
# Name GO ID Score Top Affiliating Genes
1 platelet activation GO:0030168 9.73 PTPN11 COL1A2 COL1A1
2 ossification GO:0001503 9.72 MYF5 COL2A1 COL1A1
3 central nervous system development GO:0007417 9.71 TBX6 RELN COL2A1 CHD7
4 blood vessel development GO:0001568 9.67 COL1A2 COL1A1 CHD7
5 peptidyl-tyrosine phosphorylation GO:0018108 9.62 TTN RELN FGFR3 EFEMP1
6 collagen fibril organization GO:0030199 9.61 COL2A1 COL1A2 COL1A1
7 extracellular matrix organization GO:0030198 9.55 MYF5 FBN1 COL2A1 COL1A2 COL1A1
8 skin morphogenesis GO:0043589 9.54 COL1A2 COL1A1
9 embryonic eye morphogenesis GO:0048048 9.52 FBN1 EFEMP1
10 genitalia development GO:0048806 9.51 PTPN11 CHD7
11 atrioventricular canal development GO:0036302 9.48 PTPN11 CHD7
12 cartilage development involved in endochondral bone morphogenesis GO:0060351 9.46 COL2A1 COL1A1
13 endochondral ossification GO:0001958 9.43 FGFR3 COL2A1 COL1A1
14 post-embryonic eye morphogenesis GO:0048050 9.37 FBN1 EFEMP1
15 camera-type eye development GO:0043010 9.26 MYF5 FBN1 EFEMP1 CHD7
16 skeletal system development GO:0001501 9.1 FGFR3 FBN1 COL2A1 COL1A2 COL1A1 CHD7

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TTN HARS1 FGFR3 FBN1 COL2A1 COL1A2
2 transcription coregulator activity GO:0003712 9.54 NSD1 MED13L CREBBP
3 protease binding GO:0002020 9.5 TTN COL1A2 COL1A1
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.33 COL2A1 COL1A2 COL1A1
5 platelet-derived growth factor binding GO:0048407 9.13 COL2A1 COL1A2 COL1A1
6 extracellular matrix structural constituent GO:0005201 9.02 FBN1 EFEMP1 COL2A1 COL1A2 COL1A1
Sources

Sources for Scoliosis

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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
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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