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MCID: SCL018
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Scoliosis

Categories: Bone diseases, Rare diseases
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Aliases & Classifications for Scoliosis

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MalaCards integrated aliases for Scoliosis:

Name: Scoliosis 11 75 28 5 41 43 14 16 31 33

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:0060249
MeSH 43 D012600
NCIt 49 C78603
SNOMED-CT 68 36773001
ICD10 31 M41 M41.9
ICD11 33 1925604007
UMLS 71 C0036439
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Summaries for Scoliosis

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MedlinePlus: 41 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 multiple pterygium syndrome, escobar variant and sotos syndrome. An important gene associated with Scoliosis is TBX6 (T-Box Transcription Factor 6), and among its related pathways/superpathways is Kallmann syndrome. The drugs Ketorolac and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and skin, and related phenotypes are growth/size/body region and nervous system

Disease Ontology: 11 A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.

Wikipedia: 75 Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or... 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 1374)
# Related Disease Score Top Affiliating Genes
1 multiple pterygium syndrome, escobar variant 32.3 RYR1 PIEZO2 CHRNG
2 sotos syndrome 32.1 TBX6 NSD1 FBN1 CHD7
3 marshall-smith syndrome 31.7 NSD1 FBN1
4 arthrogryposis, distal, type 5d 31.7 PIEZO2 CHRNG
5 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 31.5 TGIF2-RAB5IF RAB5IF
6 noonan syndrome 1 31.5 PTPN11 MED13L FBN1 CHD7
7 chromosome 22q11.2 deletion syndrome, distal 31.4 RELN MED13L CHD7
8 distal arthrogryposis 31.3 RYR1 PIEZO2 FBN1 CHRNG
9 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 31.2 TMCO1 TGIF2-RAB5IF RAB5IF
10 pectus excavatum 31.0 PTPN11 FBN1 ARF3
11 spondylolysis 31.0 TBX6 CTSK
12 atrial heart septal defect 30.8 PTPN11 NSD1 FBN1 CHD7
13 osteochondrodysplasia 30.8 PTPN11 FBN1 CTSK COL2A1
14 ptosis 30.7 RYR1 PTPN11 PIEZO2 MYF5 CHRNG
15 hypermobile ehlers-danlos syndrome 30.7 FBN1 EFEMP1
16 patent ductus arteriosus 1 30.6 PTPN11 NSD1 FBN1 CHD7
17 strabismus 30.6 TMCO1 ROBO3 PTPN11 PIEZO2 MED13L COL2A1
18 heart disease 30.5 RYR1 PTPN11 NSD1 MED13L FBN1 COL2A1
19 myopia 30.5 FBN1 COL2A1 CHRNG CHD7
20 pectus carinatum 30.5 NSD1 FBN1 COL2A1
21 congenital ptosis 30.5 RYR1 ROBO3 CHRNG CHD7
22 congenital contractures 30.3 RYR1 CHRNG
23 patent foramen ovale 30.2 PTPN11 NSD1 MED13L FBN1
24 fetal akinesia deformation sequence 1 30.1 RYR1 PIEZO2 CHRNG
25 multiple pterygium syndrome, lethal type 29.9 RYR1 CHRNG
26 rasopathy 29.9 PTPN11 MED13L FBN1 CHD7
27 hypertelorism 29.6 TGIF2-RAB5IF RAB5IF PTPN11 NSD1 MED13L
28 scoliosis, isolated 1 11.8
29 gaze palsy, familial horizontal, with progressive scoliosis 1 11.7
30 idiopathic scoliosis 11.7
31 seizures, scoliosis, and macrocephaly/microcephaly syndrome 11.5
32 macs syndrome 11.5
33 spondylocarpotarsal synostosis syndrome 11.4
34 scoliosis, isolated 3 11.4
35 epiphyseal chondrodysplasia, miura type 11.4
36 camptodactyly-tall stature-scoliosis-hearing loss syndrome 11.4
37 radioulnar synostosis-microcephaly-scoliosis syndrome 11.4
38 myopathy, congenital, progressive, with scoliosis 11.4
39 acrodysplasia scoliosis 11.4
40 scoliosis, isolated 4 11.4
41 scoliosis, isolated 5 11.4
42 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 11.4
43 scoliosis, isolated 2 11.3
44 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 11.3
45 steel syndrome 11.3
46 arthrogryposis, distal, type 4 11.3
47 neurodevelopmental disorder with brain anomalies, seizures, and scoliosis 11.3
48 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa 11.2
49 shprintzen omphalocele syndrome 11.2
50 scoliosis, arachnodactyly, and blindness 11.2

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 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.32 CHD7 CHRNG COL2A1 CTSK EFEMP1 FBN1
2 nervous system MP:0003631 10.31 CHD7 CHRNG COL2A1 CTSK FBN1 MYF5
3 embryo MP:0005380 10.16 CHD7 CHRNG COL2A1 FBN1 MYF5 NSD1
4 muscle MP:0005369 10.13 CHD7 CHRNG EFEMP1 FBN1 MYF5 PTPN11
5 behavior/neurological MP:0005386 10.13 CHD7 CHRNG COL2A1 CTSK EFEMP1 FBN1
6 limbs/digits/tail MP:0005371 10.11 CHD7 COL2A1 CTSK FBN1 MYF5 PTPN11
7 cellular MP:0005384 10.11 CHD7 COL2A1 CTSK FBN1 MYF5 PTPN11
8 adipose tissue MP:0005375 10.1 CHD7 COL2A1 EFEMP1 FBN1 MYF5 PTPN11
9 digestive/alimentary MP:0005381 10.09 CHD7 COL2A1 CTSK EFEMP1 MYF5 PTPN11
10 craniofacial MP:0005382 10.01 CHD7 COL2A1 CTSK FBN1 MYF5 PTPN11
11 respiratory system MP:0005388 9.91 CHD7 CHRNG COL2A1 CTSK FBN1 MYF5
12 skeleton MP:0005390 9.85 CHD7 COL2A1 CTSK EFEMP1 FBN1 MYF5
13 vision/eye MP:0005391 9.61 ARF3 CHD7 COL2A1 EFEMP1 MYF5 PTPN11
14 mortality/aging MP:0010768 9.47 CHD7 CHRNG COL2A1 EFEMP1 FBN1 MYF5
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 170)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Tranexamic acid Approved Phase 4 1197-18-8 5526
6
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
7
Methadone Approved Phase 4 76-99-3, 1095-90-5 4095
8
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
11
Thrombin Approved, Investigational Phase 4
12
Cefazolin Approved Phase 4 25953-19-9 33255
13
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
14
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
15
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
16
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850 155817470
17
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
18
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
19
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
20
Esketamine Approved, Investigational Phase 4 33643-46-8 182137
21
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
22
Caffeine Approved Phase 4 58-08-2 2519
23
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
25
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
26
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
27 Acetaminophen, hydrocodone drug combination Phase 4
28 Anesthetics Phase 4
29 Narcotics Phase 4
30 Anti-Anxiety Agents Phase 4
31 Anticonvulsants Phase 4
32 Antifibrinolytic Agents Phase 4
33 Hemostatics Phase 4
34 Coagulants Phase 4
35 Pharmaceutical Solutions Phase 4
36 Respiratory System Agents Phase 4
37 Antitussive Agents Phase 4
38 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
39 GABA Modulators Phase 4
40 Bone wax Phase 4
41 Dialysis Solutions Phase 4
42 calcium channel blockers Phase 4
43 Neurotransmitter Agents Phase 4
44
abobotulinumtoxinA Phase 4
45 Botulinum Toxins, Type A Phase 4
46 Botulinum Toxins Phase 4
47 Cholinergic Agents Phase 4
48 Analgesics, Opioid Phase 4
49 Analgesics Phase 4
50 Anesthetics, Intravenous Phase 4

Interventional clinical trials:

(show top 50) (show all 430)
# 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 Continuous Local Infusion of Anesthetic at the Incisional Site for Scoliosis Surgery Completed NCT00508066 Phase 4 Bupivacaine;Normal Saline
3 Surgical Outcomes Using Variable Rod Diameters in the Treatment of Idiopathic Scoliosis Completed NCT00510575 Phase 4
4 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
5 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
6 Pain, Fentanyl Consumption, and Delirium in Children After Scoliosis Surgery: Dexmedetomidine Versus Midazolam Completed NCT01748630 Phase 4 dexmedetomidine;Midazolam;fentanyl
7 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. Completed NCT01451788 Phase 4
8 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)
9 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
10 Skeletal Muscle and Adipose Tissue Concentrations of Cefazolin Comparing Two Different Dosing Regimens During Pediatric Posterior Spinal Fusion Surgery Completed NCT03190668 Phase 4 Bolus dose of Cefazolin;Continuous Cefazolin drip
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 Effect of Pregabalin on Immediate Post-operative and Longterm Pain and Spinal Cord Monitoring in Children Undergoing Instrumented Spinal Surgery. Completed NCT02464813 Phase 4 Pregabalin;Sugar pill;Oxycodone
13 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
14 Assessment of the Efficacy of Forteo (Teriparatide) in Patients Undergoing Posterolateral Lumbar Spinal Fusion Completed NCT01292252 Phase 4
15 Modulation of μ Opioid Receptor Mediated Analgesia, Tolerance and Hyperalgesia in Children and Adolescents Completed NCT01325493 Phase 4 Ketamine;Normal Saline
16 Intravenous Lignocaine as an Analgesic Adjunct in Adolescent Idiopathic Scoliosis Surgery (IGNITE-AIS Study) Recruiting NCT04931433 Phase 4 Lignocaine;Normal saline
17 Low-dose S-ketamine and Dexmedetomidine in Combination With Opioids for Patient-controlled Analgesia After Scoliosis Correction Surgery: a Randomized, Double-blind, Placebo-controlled Trial Recruiting NCT04791059 Phase 4 S-ketamine;Dexmedetomidine;Sufentanil
18 Dysport ® (abobotulinumtoxinA) as an Adjunctive Treatment to Bracing in the Management of Adolescent Idiopathic Scoliosis Recruiting NCT03935295 Phase 4 AbobotulinumtoxinA;Placebos
19 Oral Caffeine Decreases the Frequency of Opioid Demand in AIS Patients After Spinal Fusion Recruiting NCT04950660 Phase 4 Caffeine Tablet;Placebo
20 Intravenous Lidocaine to Reduce Postoperative Opioid Consumption and Improve Recovery After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis Enrolling by invitation NCT03893318 Phase 4 IV lidocaine;Placebos
21 The Impact of Perioperative Steroid Dosing on the Acute Phase Response in Adolescent Idiopathic Scoliosis Not yet recruiting NCT05561725 Phase 4 Dexamethasone postoperative;Standard of Care
22 Identification of the Optimal Analgesic Dose of Intrathecal Hydromorphone for Pediatric Patients Undergoing Posterior Spine Surgery for Idiopathic Scoliosis Not yet recruiting NCT05552443 Phase 4 Hydromorphone 2.5 mcg/kg;Hydromorphone 2.75 mcg/kg;Hydromorphone 3 mcg/kg;Hydromorphone 3.25 mcg/kg;Hydromorphone 3.5 mcg/kg;Hydromorphone 4 mcg/kg;Hydromorphone 4.5 mcg/kg;Hydromorphone 5 mcg/kg
23 Effect of Prophylactic Fibrinogen Concentrate In Scoliosis Surgery: A Randomized Pilot Study Not yet recruiting NCT05391412 Phase 4 Fibrinogen Concentrate Human
24 Perioperative Outcomes of Multilevel Posterior Spinal Fusion in Adolescent Scoliosis With Two Energy Dissection Techniques Terminated NCT02465099 Phase 4
25 Actifuse ABX and Local Bone Have Comparable Outcomes to Local Bone in Instrumented Multi-Level Adult Spinal Deformity Patients Terminated NCT01852747 Phase 4
26 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
27 Does Teicoplanin Powder Use In Lumbar Instrumentation Surgery Reduce Surgical Site Infection Unknown status NCT04341831 Phase 3 Teicoplanin
28 Analgesic Effects of Gabapentin After Scoliosis Surgery in Children Completed NCT00684112 Phase 3 Gabapentin;Placebo
29 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
30 Can Calcium and Vitamin D Supplementation Improve Bone Mineral Density and Curve Progression in Girls With Adolescent Idiopathic Scoliosis? Completed NCT01103115 Phase 3
31 Recombinant Human Erythropoietin Compared to Autologous Pre-Donation Prior to Scoliosis Surgery in Children. Completed NCT00323752 Phase 3
32 Improving Low Bone Mass With Vibration Therapy for Girls With Adolescent Idiopathic Scoliosis (AIS) - A Randomized Controlled Trial Completed NCT01108211 Phase 3
33 IRB-HSR# 14145 R,S Methadone: Analgesia and Pharmacokinetics in Adolescents Undergoing Scoliosis Correction Completed NCT01205256 Phase 3 methadone
34 An Open-label Trial of Clevidipine for Controlled Hypotension During Spinal Fusion Completed NCT01645111 Phase 2, Phase 3 Clevidipine
35 Perioperative Multimodal Analgesia Including Intravenous Lidocaine Infusion for Pain Management Following Idiopathic Scoliosis Correction Surgery in Children Recruiting NCT04069169 Phase 3 Lidocaine;Saline Solution
36 Use of Intravenous Acetaminophen in Adolescents and Pediatrics Undergoing Spinal Fusion Surgery: Randomized Controlled Trial Recruiting NCT04959591 Phase 3 intravenous acetaminophen;Placebo
37 Perioperative Methadone Use to Decrease Opioid Requirement in Pediatric Spinal Fusion Patients Active, not recruiting NCT02558010 Phase 3 Methadone;Morphine
38 Sensorial and Physiological Mechanism-based Assessments of Perioperative Pain Suspended NCT03537612 Phase 3 Clonidine
39 The Use of Perioperative Gabapentin in Adolescents Undergoing Posterior Spinal Fusion for Idiopathic Scoliosis to Prevent Chronic Postsurgical Pain, a Pilot Study. Withdrawn NCT03867240 Phase 3 Gabapentin
40 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
41 Ultrasound Guided Erector Spinae Plane Block in Scoliotic Adolescents Undergoing Posterior Spine Instrumentation . A Randomized Controlled Trial Completed NCT03968146 Phase 2 Fentanyl;additional Fentanyl;Morphine;rescue Morphine;pethidine;Ketorolac;Acetaminophen
42 Assessment of the Analgesic Efficacy and Tolerability of the Perioperative Association of the Ketamine With Opiates After Posterior Vertebral Fusion Surgery in Children With Idiopathic Scoliosis Completed NCT02571491 Phase 2 Ketamine Hydrochloride;Remifentanil;Morphine hydrochloride
43 The Effect of Magnesium Sulfate on Motor and Somatosensory Evoked Potentials in Children Undergoing Scoliosis Surgery Completed NCT01148888 Phase 2 Magnesium
44 Comparing the Moss Miami and Universal Spinal Instrumentation Systems for the Treatment of Adolescent Idiopathic Scoliosis Completed NCT00273598 Phase 2
45 The Efficacy of Intravenous Tranexamic Acid in Decreasing Blood Loss in Pediatric Idiopathic Scoliosis Surgery? Completed NCT01813058 Phase 1, Phase 2 Tranexamic Acid;Placebo
46 Analgesia Following Posterior Spinal Fusion: Methadone vs Magnesium Completed NCT01795495 Phase 2 Methadone hydrochloride;Magnesium Sulfate;Remifentanil
47 Incobotulinumtoxin A and Yoga-like Isometric Exercise in Adolescent Idiopathic Lumbar Scoliosis Recruiting NCT04922983 Phase 2 Botulinum toxin type A
48 The Role of VitD in Rehabilitation of Idiopathic Adolescent Scoliosis Recruiting NCT03582917 Phase 2 Alphacalcidol
49 Blood Loss and Transfusion Requirement in Pediatric Patients With Non-Idiopathic Scoliosis Treated With Tranexamic Acid Undergoing Posterior Spinal Instrumentation and Fusion. Terminated NCT01089140 Phase 2 Tranexamic acid 10mg/kg/hr;Tranexamic acid 100 mg/kg/h infusion;Saline solution
50 Influence of Leg Length Discrepancy on the Spinal Shape and Biomechanics During Static and Dynamic Activities in Functional and Idiopathic Scoliosis Patients Completed NCT00155545 Phase 1

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 28
Sources

Anatomical Context for Scoliosis

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Organs/tissues related to Scoliosis:

MalaCards : Bone, Spinal Cord, Skin, Skeletal Muscle, Lung, Bone Marrow, Breast
Sources

Publications for Scoliosis

About this section

Articles related to Scoliosis:

(show top 50) (show all 23665)
# Title Authors PMID Year
1
TBX6 null variants and a common hypomorphic allele in congenital scoliosis. 62 5
25564734 2015
2
The clinical effectiveness and complications of lumbar selective fenestration and concave-side fusion (LSFCF) in degenerative lumbar scoliosis (DLS) combined with lumbar spinal stenosis (LSS). 62 41
36419148 2022
3
Physiotherapy as a Specific and Purposeful Form of Physical Activity in Children with Idiopathic Body Asymmetry. 62 41
36429727 2022
4
Minimum 3-year experience with vertebral body tethering for treating scoliosis: A systematic review and single-arm meta-analysis. 62 41
36420934 2022
5
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
6
Further confirmation of the MED13L haploinsufficiency syndrome. 5
24781760 2015
7
Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. 5
23403903 2013
8
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. 5
22167768 2012
9
Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 5
14638541 2003
10
The spectrum of foot deformities in Loeys-Dietz syndrome. 62
36445364 2023
11
Abnormal morphological features of osteocyte lacunae in adolescent idiopathic scoliosis: A large-scale assessment by ultra-high-resolution micro-computed tomography. 62
36341948 2023
12
Imaging in Chiari I Malformation. 62
36424066 2023
13
Scoliosis assessment tools to reduce follow-up X-rays. 62
36313977 2023
14
Association between serum β-oestradiol and health-related quality of life in postmenopausal women with degenerative lumbar scoliosis. 62
35638176 2023
15
Role of Chiari Decompression in Managing Spinal Deformity Associated with Chiari I Malformation and Syringomyelia. 62
36424056 2023
16
Spine Deformity Associated with Chiari I Malformation and Syringomyelia. 62
36424055 2023
17
STRYDE versus PRECICE magnetic internal lengthening nail for femur lengthening. 62
33983528 2022
18
Association between sitting posture on school furniture and spinal changes in adolescents. 62
32841159 2022
19
The risk of delayed spinal cord injury in pediatric spinal deformity surgery. 62
36459389 2022
20
Association of telomere length with risk of complications in adult spinal deformity surgery: a pilot study of 43 patients. 62
36461827 2022
21
Urotensin II-related peptides, Urp1 and Urp2, control zebrafish spine morphology. 62
36453722 2022
22
Current evidence on where to end a fusion within the thoracolumbar junction most preferably - A systematic literature review. 62
35817090 2022
23
End of growth results of an optimised treatment for 40-degree idiopathic scoliosis at age 1: A case report. 62
35489686 2022
24
Comparison of the Accuracy of Pedicle Screw Placement Using a Fluoroscopy-Assisted Free-Hand Technique with Robotic-Assisted Navigation Using an O-Arm or 3D C-Arm in Scoliosis Surgery. 62
36455162 2022
25
"Letter to the Editor: Treatment of infantile idiopathic scoliosis using a novel thoracolumbosacral orthosis: a case report". 62
36471436 2022
26
Risk factors and clinical impact of persistent coronal imbalance after posterior spinal fusion in thoracolumbar/lumbar idiopathic scoliosis. 62
35901689 2022
27
Letter to the editor regarding "Pulmonary function in children and adolescents with untreated idiopathic scoliosis: a systematic review with meta-regression analysis". 62
36464413 2022
28
Semi-automatic method for pre-surgery scoliosis classification on X-ray images using Bending Asymmetry Index. 62
36085434 2022
29
Response to the letter to the editor regarding, "Pulmonary function in children and adolescents with untreated idiopathic scoliosis: a systematic review with meta-regression analysis". 62
36089264 2022
30
Multisegment transforaminal lumbar interbody fusion (TLIF) combined with Ponte osteotomy in degenerative lumbar scoliosis (DLS) surgery: a minimum of five years' follow-up. 62
36153365 2022
31
A patient with mosaic USP9X gene variant. 62
36216272 2022
32
MPS VII - Extending the classical phenotype. 62
36299251 2022
33
Implications of Tumor Characteristics and Treatment Modality on Local Recurrence and Functional Outcomes in Children With Chest Wall Sarcoma: A Pediatric Surgical Oncology Research Collaborative Study. 62
33156070 2022
34
Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis. 62
36267860 2022
35
Peroral endoscopic myotomy for treatment of achalasia in a patient with congenital osteogenesis imperfecta and scoliosis. 62
36460038 2022
36
Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue. 62
36456709 2022
37
Cervical sagittal alignment is influenced by changes in thoracic and lumbar sagittal alignments after correction surgery in patients with lenke type 6 adolescent idiopathic scoliosis. 62
36147585 2022
38
Current models to understand the onset and progression of scoliotic deformities in adolescent idiopathic scoliosis: a systematic review. 62
36454530 2022
39
Risk factors for vertebral bridging in residual adolescent idiopathic scoliosis with thoracolumbar/lumbar curves. 62
36462997 2022
40
Ultrasound to X-ray synthesis generative attentional network (UXGAN) for adolescent idiopathic scoliosis. 62
35926252 2022
41
Providence nighttime brace is as effective as fulltime Boston brace for female patients with adolescent idiopathic scoliosis: A retrospective analysis of a randomized cohort. 62
36458131 2022
42
Early dynamic changes within the spine following posterior fusion using hybrid instrumentation in adolescents with idiopathic scoliosis: a gait analysis study. 62
34008049 2022
43
Outcomes of Posterior Spinal Fusion in Pediatric Patients with Down Syndrome. 62
36166508 2022
44
Prevalence and risk factors for scoliosis in adults with closed and open spina bifida: A large, cross-sectional study. 62
35717001 2022
45
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages. 62
36053339 2022
46
Novel use of transesophageal echocardiography to optimize hemodynamics and patient positioning during prone scoliosis surgery and safety considerations in the setting of intraoperative neuromonitoring: a case report. 62
36198993 2022
47
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. 62
36161696 2022
48
Short Stature Syndromes: Case Series from India. 62
36267864 2022
49
Treatment of obstructive sleep apnea with hypoglossal nerve stimulation in a patient with Ehlers-Danlos Syndrome. 62
36458732 2022
50
Management of spine deformity secondary to facioscapulohumeral dystrophy in pediatric patients. A case description and a literature review. 62
36469220 2022
Sources

Variations for Scoliosis

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ClinVar genetic disease variations for Scoliosis:

5 (show top 50) (show all 61)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 6 genes GRCh37/hg19 1q41(chr1:215829463-219225857) CN LOSS Pathogenic
 523271 GRCh37: 1:215829463-219225857
GRCh38:
2 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs) DEL Pathogenic
 523663 rs1555216163 GRCh37: 12:81110863-81110872
GRCh38: 12:80717084-80717093
3 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys) SNV Pathogenic
 523662 rs1565864693 GRCh37: 12:81111125-81111125
GRCh38: 12:80717346-80717346
4 EFEMP1 NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs) DEL Pathogenic
 691884 rs1572850869 GRCh37: 2:56144993-56144997
GRCh38: 2:55917858-55917862
5 EFEMP1 NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter) SNV Pathogenic
 691885 rs765517862 GRCh37: 2:56108772-56108772
GRCh38: 2:55881637-55881637
6 TBX6 NM_004608.4(TBX6):c.356G>A (p.Arg119His) SNV Pathogenic
 694403 rs200175825 GRCh37: 16:30100529-30100529
GRCh38: 16:30089208-30089208
7 CHD7 NM_017780.4(CHD7):c.6892C>T (p.Gln2298Ter) SNV Pathogenic
 374090 rs1057518891 GRCh37: 8:61767038-61767038
GRCh38: 8:60854479-60854479
8 TBX6 NM_004608.4(TBX6):c.418C>T (p.Leu140Phe) SNV Pathogenic
 694414 rs1596853085 GRCh37: 16:30100467-30100467
GRCh38: 16:30089146-30089146
9 overlap with 8 genes GRCh37/hg19 17p12(chr17:14100118-15455297) CN GAIN Pathogenic
 1047887 GRCh37: 17:14100118-15455297
GRCh38:
10 RELN NM_005045.4(RELN):c.7456A>G (p.Ser2486Gly) SNV Pathogenic
 684430 rs760019076 GRCh37: 7:103163872-103163872
GRCh38: 7:103523425-103523425
11 TBX6 NM_004608.4(TBX6):c.473_475dup (p.Trp158_Glu159insGly) DUP Pathogenic
 694406 rs1596852902 GRCh37: 16:30100409-30100410
GRCh38: 16:30089088-30089089
12 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic
 40554 rs397507542 GRCh37: 12:112926873-112926873
GRCh38: 12:112489069-112489069
13 FBN1 NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) DEL Pathogenic
 978559 rs2043485390 GRCh37: 15:48776093-48776096
GRCh38: 15:48483896-48483899
14 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
15 MED13L t(12;19)(q24.21;q12) TRANS Pathogenic
 218934 GRCh37:
GRCh38:
16 ARF3 NM_001659.3(ARF3):c.379A>G (p.Lys127Glu) SNV Pathogenic
 1697213 GRCh37: 12:49333443-49333443
GRCh38: 12:48939660-48939660
17 ARF3 NM_001659.3(ARF3):c.200A>T (p.Asp67Val) SNV Pathogenic
 1697211 GRCh37: 12:49333839-49333839
GRCh38: 12:48940056-48940056
18 overlap with 7 genes DEL Pathogenic
 1684630 GRCh37: 17:8021110-8030264
GRCh38: 17:8117792-8126946
19 RAB5IF, TGIF2-RAB5IF NM_018840.5(RAB5IF):c.75G>A (p.Trp25Ter) SNV Pathogenic
 996015 GRCh37: 20:35234429-35234429
GRCh38: 20:36606026-36606026
20 HARS1 NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) SNV Pathogenic
 804288 rs754304255 GRCh37: 5:140054329-140054329
GRCh38: 5:140674744-140674744
21 HARS1 NM_002109.6(HARS1):c.910_912dup (p.Leu305dup) DUP Pathogenic
 804287 rs1581504953 GRCh37: 5:140056612-140056613
GRCh38: 5:140677027-140677028
22 NSD1 NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic
 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
23 FBN1 NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile) SNV Pathogenic
 373981 rs1057518812 GRCh37: 15:48722939-48722939
GRCh38: 15:48430742-48430742
24 CTSK NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) SNV Pathogenic
 684727 rs1571122183 GRCh37: 1:150769360-150769360
GRCh38: 1:150796884-150796884
25 FBN1 NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) SNV Pathogenic
 163462 rs727503054 GRCh37: 15:48712949-48712949
GRCh38: 15:48420752-48420752
26 overlap with 78 genes DEL Pathogenic
 1684631 GRCh37:
GRCh38: 18:69541066-80373285
27 RYR1 NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) SNV Likely Pathogenic
 374168 rs763944786 GRCh37: 19:38959759-38959759
GRCh38: 19:38469119-38469119
28 TTN-AS1, TTN NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) DUP Likely Pathogenic
 279965 rs886041287 GRCh37: 2:179400321-179400322
GRCh38: 2:178535594-178535595
29 FGF14 NM_004115.4(FGF14):c.486dup (p.Arg163fs) DUP Likely Pathogenic
 598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
30 TBX6 NM_004608.4(TBX6):c.434C>T (p.Pro145Leu) SNV Likely Pathogenic
 188056 rs202193096 GRCh37: 16:30100451-30100451
GRCh38: 16:30089130-30089130
31 CHRNG NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) SNV Likely Pathogenic
 548021 rs764266722 GRCh37: 2:233405097-233405097
GRCh38: 2:232540387-232540387
32 ARF3 NM_001659.3(ARF3):c.34C>G (p.Leu12Val) SNV Likely Pathogenic
 1697208 GRCh37: 12:49334845-49334845
GRCh38: 12:48941062-48941062
33 NSD1 NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) SNV Likely Pathogenic
 159398 rs587784177 GRCh37: 5:176710828-176710828
GRCh38: 5:177283827-177283827
34 COL2A1 NM_001844.5(COL2A1):c.1916G>A (p.Gly639Asp) SNV Likely Pathogenic
 374114 rs1057518908 GRCh37: 12:48377895-48377895
GRCh38: 12:47984112-47984112
35 CHRNG NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) SNV Likely Pathogenic
 18336 rs267606725 GRCh37: 2:233404470-233404470
GRCh38: 2:232539760-232539760
36 PIEZO2 NM_001378183.1(PIEZO2):c.64+1G>A SNV Likely Pathogenic
 1683711 GRCh37: 18:11148523-11148523
GRCh38: 18:11148524-11148524
37 FAM120AOS NM_198841.4(FAM120AOS):c.743C>T (p.Thr248Ile) SNV Likely Pathogenic
 183343 rs140119177 GRCh37: 9:96209921-96209921
GRCh38: 9:93447639-93447639
38 GRIN2B NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg) SNV Likely Pathogenic
 523381 rs1555103652 GRCh37: 12:13722907-13722907
GRCh38: 12:13569973-13569973
39 SLC9A6 NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs) DEL Likely Pathogenic
 418996 rs1064793575 GRCh37: X:135098865-135098866
GRCh38: X:136016706-136016707
40 GFAP NM_002055.5(GFAP):c.1046A>C (p.Tyr349Ser) SNV Likely Pathogenic
 374003 rs1057518828 GRCh37: 17:42988685-42988685
GRCh38: 17:44911317-44911317
41 CREBBP NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter) SNV Likely Pathogenic
 373943 rs1057518789 GRCh37: 16:3778804-3778804
GRCh38: 16:3728803-3728803
42 TBX6 NM_004608.4(TBX6):c.1133G>A (p.Arg378His) SNV Likely Pathogenic
 694413 rs756921502 GRCh37: 16:30097724-30097724
GRCh38: 16:30086403-30086403
43 TBX6 NM_004608.4(TBX6):c.424G>T (p.Asp142Tyr) SNV Likely Pathogenic
 694404 rs1596853067 GRCh37: 16:30100461-30100461
GRCh38: 16:30089140-30089140
44 TBX6 NM_004608.4(TBX6):c.440A>T (p.Asp147Val) SNV Uncertain Significance
 694405 rs1596853022 GRCh37: 16:30100445-30100445
GRCh38: 16:30089124-30089124
45 TBX6 NM_004608.4(TBX6):c.499C>T (p.Arg167Cys) SNV Uncertain Significance
 694407 rs760006939 GRCh37: 16:30100386-30100386
GRCh38: 16:30089065-30089065
46 TBX6 NM_004608.4(TBX6):c.700G>C (p.Gly234Arg) SNV Uncertain Significance
 694408 rs376817900 GRCh37: 16:30100082-30100082
GRCh38: 16:30088761-30088761
47 TBX6 NM_004608.4(TBX6):c.929C>T (p.Pro310Leu) SNV Uncertain Significance
 694409 rs1596848757 GRCh37: 16:30098001-30098001
GRCh38: 16:30086680-30086680
48 TBX6 NM_004608.4(TBX6):c.1112C>T (p.Pro371Leu) SNV Uncertain Significance
 694410 rs749373395 GRCh37: 16:30097745-30097745
GRCh38: 16:30086424-30086424
49 TBX6 NM_004608.4(TBX6):c.1184G>A (p.Gly395Asp) SNV Uncertain Significance
 694411 rs1596847759 GRCh37: 16:30097673-30097673
GRCh38: 16:30086352-30086352
50 TBX6 NM_004608.4(TBX6):c.1300C>T (p.Pro434Ser) SNV Uncertain Significance
 694412 rs1200121314 GRCh37: 16:30097557-30097557
GRCh38: 16:30086236-30086236
Sources

Expression for Scoliosis

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Search GEO for disease gene expression data for Scoliosis.
Sources

Pathways for Scoliosis

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Pathways related to Scoliosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Kallmann syndrome 74
9.95 PTPN11 CHD7
Sources

GO Terms for Scoliosis

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

# Name GO ID Score Top Affiliating Genes
1 central nervous system development GO:0007417 9.76 TBX6 RELN COL2A1 CHD7
2 atrioventricular canal development GO:0036302 9.67 PTPN11 CHD7
3 embryonic eye morphogenesis GO:0048048 9.62 FBN1 EFEMP1
4 mitochondrial respirasome assembly GO:0097250 9.58 TGIF2-RAB5IF RAB5IF
5 genitalia development GO:0048806 9.56 PTPN11 CHD7
6 post-embryonic eye morphogenesis GO:0048050 9.26 FBN1 EFEMP1
7 camera-type eye development GO:0043010 9.17 MYF5 FBN1 EFEMP1 CHD7
Sources

Sources for Scoliosis

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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