AIS
MCID: SCL057
MIFTS: 42

Scoliosis, Isolated 1 (AIS)

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Scoliosis, Isolated 1

MalaCards integrated aliases for Scoliosis, Isolated 1:

Name: Scoliosis, Isolated 1 57
Adolescent Idiopathic Scoliosis 57 53 25
Scoliosis, Isolated, Susceptibility to, 1 57 6
Idiopathic Adolescent Scoliosis 76 53
Scoliosis, Idiopathic 1 57 13
Ais 57 25
Adolescent Isolated Scoliosis; Ais 57
Late Onset Idiopathic Scoliosis 25
Adolescent Isolated Scoliosis 57
Is1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant vs. multifactorial


Classifications:



External Ids:

OMIM 57 181800
MedGen 42 C2700406
SNOMED-CT via HPO 69 111266001 64217002

Summaries for Scoliosis, Isolated 1

NIH Rare Diseases : 53 Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "s" or "C" shape, and the bones of the spine become slightly twisted or rotated. In many cases, the abnormal spinal curve is stable; however, in some children, the curve becomes more severe over time (progressive). For unknown reasons, severe and progressive curves occur more frequently in girls than in boys. The cause of adolescent idiopathic scoliosis is unknown. It is likely that there are both genetic and environmental factors involved. Treatment may include observation, bracing and/or surgery.

MalaCards based summary : Scoliosis, Isolated 1, also known as adolescent idiopathic scoliosis, is related to scoliosis and androgen insensitivity syndrome. An important gene associated with Scoliosis, Isolated 1 is MAPK7 (Mitogen-Activated Protein Kinase 7). Affiliated tissues include bone, testes and lung, and related phenotype is scoliosis.

Genetics Home Reference : 25 Adolescent idiopathic scoliosis is an abnormal curvature of the spine that appears in late childhood or adolescence. Instead of growing straight, the spine develops a side-to-side curvature, usually in an elongated "S" or "C" shape; the bones of the spine are also slightly twisted or rotated.

OMIM : 57 Idiopathic scoliosis is a structurally fixed lateral curvature of the spine with a rotatory component. There is at least a 10 degree curvature as demonstrated by upright spine roentgenograms by the Cobb method (Weinstein, 1994). Scoliosis may occur secondary to other hereditary disorders including Marfan syndrome (154700), dysautonomia (223900), neurofibromatosis (see 162200), Friedreich ataxia (see 229300), and muscular dystrophies. (181800)

Wikipedia : 76 Scoliosis is a medical condition in which a person''s spine has a sideways curve. The curve is usually... more...

Related Diseases for Scoliosis, Isolated 1

Diseases in the Scoliosis, Isolated 1 family:

Scoliosis, Isolated 2 Scoliosis, Isolated 3
Scoliosis, Isolated 4 Scoliosis, Isolated 5

Diseases related to Scoliosis, Isolated 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 scoliosis 31.4 IS1 MAPK7
2 androgen insensitivity syndrome 12.0
3 amelogenesis imperfecta 12.0
4 autoimmune inner ear disease 11.9
5 aland island eye disease 11.8
6 hereditary amyloidosis 11.3
7 aortic valve insufficiency 11.3
8 childhood-onset cerebral x-linked adrenoleukodystrophy 11.3
9 idiopathic scoliosis 11.2
10 pediatric arterial ischemic stroke 11.2
11 amelogenesis imperfecta, type ib 11.1
12 scoliosis, isolated 3 11.1
13 scoliosis, isolated 4 11.1
14 scoliosis, isolated 5 11.1
15 salt and pepper developmental regression syndrome 11.0
16 jalili syndrome 11.0
17 amelogenesis imperfecta, type ie 11.0
18 amelogenesis imperfecta, type ij 11.0
19 alzheimer disease 10.8
20 amyloidosis 10.4
21 adenocarcinoma 10.3
22 body mass index quantitative trait locus 1 10.2
23 adenocarcinoma in situ 10.2
24 arteries, anomalies of 10.2
25 dementia 10.2
26 cerebral amyloid angiopathy, cst3-related 10.2
27 coronary artery anomaly 10.2
28 spondyloocular syndrome 10.1
29 retinitis pigmentosa 4 10.1
30 chiari malformation 10.1
31 diabetes mellitus 10.1
32 neuroblastoma 10.1
33 inclusion body myositis 10.0
34 myositis 10.0
35 aging 10.0
36 thalassemia 10.0
37 depression 10.0
38 marfan syndrome 10.0
39 pectus excavatum 10.0
40 bone mineral density quantitative trait locus 3 10.0
41 alkuraya-kucinskas syndrome 10.0
42 ganglioneuroma 10.0
43 degos 'en cocarde' erythrokeratoderma 10.0
44 coronary heart disease 1 10.0
45 myocardial infarction 10.0
46 endocervical adenocarcinoma 10.0
47 heart disease 10.0
48 avian influenza 10.0
49 influenza 10.0
50 dysfibrinogenemia 10.0

Graphical network of the top 20 diseases related to Scoliosis, Isolated 1:



Diseases related to Scoliosis, Isolated 1

Symptoms & Phenotypes for Scoliosis, Isolated 1

Symptoms via clinical synopsis from OMIM:

57
Spine:
scoliosis


Clinical features from OMIM:

181800

Human phenotypes related to Scoliosis, Isolated 1:

32
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650

Drugs & Therapeutics for Scoliosis, Isolated 1

Search Clinical Trials , NIH Clinical Center for Scoliosis, Isolated 1

Genetic Tests for Scoliosis, Isolated 1

Anatomical Context for Scoliosis, Isolated 1

MalaCards organs/tissues related to Scoliosis, Isolated 1:

41
Bone, Testes, Lung, Spinal Cord, Brain, Heart, Eye

Publications for Scoliosis, Isolated 1

Articles related to Scoliosis, Isolated 1:

(show top 50) (show all 1108)
# Title Authors Year
1
Standardized traction versus side-bending radiographs in adolescent idiopathic scoliosis: a preliminary study. ( 30252796 )
2019
2
Costs and complications of increased length of stay following adolescent idiopathic scoliosis surgery. ( 30256316 )
2019
3
The effect of Cobb angle correction on spinal length gain in patients with adolescent idiopathic scoliosis. ( 29697489 )
2019
4
Does fusion to T2 compared with T3/T4 lead to improved shoulder balance in adolescent idiopathic scoliosis with a double thoracic curve? ( 29851712 )
2019
5
The effect of upper instrumented vertebra level on cervical sagittal alignment in Lenke 1 adolescent idiopathic scoliosis. ( 29933123 )
2018
6
Vertebral Axial Asymmetry in Adolescent Idiopathic Scoliosis. ( 29413732 )
2018
7
A National Analysis on Predictors of Discharge to Rehabilitation after Corrective Surgery for Adolescent Idiopathic Scoliosis. ( 29933335 )
2018
8
Dynamic ensemble selection of learner-descriptor classifiers to assess curve types in adolescent idiopathic scoliosis. ( 29949021 )
2018
9
Radiographic Methods to Estimate Surgical Outcomes based on Spinal Flexibility Assessment in Patients who have Adolescent Idiopathic Scoliosis: A Systematic Review. ( 29959103 )
2018
10
Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389797 )
2018
11
Accuracy of thoracic pedicle screw placement using freehand technique and triggered EMG in adolescent idiopathic scoliosis: Is it different between concave and convex side? ( 29954289 )
2018
12
Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. ( 29422531 )
2018
13
Association of vitamin D receptor BsmI rs1544410 and ApaI rs7975232 polymorphisms with susceptibility to adolescent idiopathic scoliosis: A systematic review and meta-analysis. ( 29480871 )
2018
14
Fulcrum flexibility of the main curve predicts postoperative shoulder imbalance in selective thoracic fusion of adolescent idiopathic scoliosis. ( 29931567 )
2018
15
Prevalence and impact of low body mass index on outcomes in patients with adolescent idiopathic scoliosis: a systematic review. ( 29434317 )
2018
16
Dose, image quality and spine modeling assessment of biplanar EOS micro-dose radiographs for the follow-up of in-brace adolescent idiopathic scoliosis patients. ( 29340779 )
2018
17
Shoulder Complex Mechanics in Adolescent Idiopathic Scoliosis and Their Relation to Patient-perceived Function. ( 29975295 )
2018
18
Proximal junctional kyphosis following correction surgery in the Lenke 5 adolescent idiopathic scoliosis patient. ( 29960823 )
2018
19
Sagittal plane assessment of spino-pelvic complex in a Central European population with adolescent idiopathic scoliosis: a case control study. ( 29942864 )
2018
20
Who Needs a Pediatric Intensive Care Unit After Posterior Spinal Fusion for Adolescent Idiopathic Scoliosis? ( 29413735 )
2018
21
Patterns of coronal curve changes in forward bending posture: a 3D ultrasound study of adolescent idiopathic scoliosis patients. ( 29943198 )
2018
22
Proximal junctional kyphosis in thoracic adolescent idiopathic scoliosis: risk factors and compensatory mechanisms in a multicenter national cohort. ( 29959554 )
2018
23
Criteria for Ending the Distal Fusion at the L3 Vertebra vs. L4 in Surgical Treatment of Adolescent Idiopathic Scoliosis Patients with Lenke Type 3C, 5C, and 6C Curves: Results After Ten Years of Follow-up. ( 29974019 )
2018
24
Supplementary Addendum to "Radiation dose of digital radiography (DR) versus micro-dose x-ray (EOS) on patients with adolescent idiopathic scoliosis: 2016 SOSORT- IRSSD "John Sevastic Award" Winner in Imaging Research". ( 29435497 )
2018
25
Analysis of sensory system aspects of postural stability during quiet standing in adolescent idiopathic scoliosis patients. ( 29929530 )
2018
26
Expert's Comment concerning Grand Rounds case entitled "Chyluria and chylothorax after posterior selective fusion for adolescent idiopathic scoliosis" by A.A. Weening et al. Eur Spine J; DOI 10.1007/s00586-017-5066-y. ( 29948323 )
2018
27
Bone Mineral Density After Spinal Fusion Surgery for Adolescent Idiopathic Scoliosis at a Minimum 20-Year Follow-up. ( 29413740 )
2018
28
Blood Loss Trends and Financial Implications in Adolescent Idiopathic Scoliosis. ( 29979217 )
2018
29
CORR InsightsAr: Curve Progression in Adolescent Idiopathic Scoliosis Does Not Match Skeletal Growth. ( 29389798 )
2018
30
Variation in Adolescent Idiopathic Scoliosis Surgery: Implications for Improving Healthcare Value. ( 29426688 )
2018
31
Additional Risk Factors for Adding-On After Selective Thoracic Fusion in Adolescent Idiopathic Scoliosis: Implication of Lowest Instrumented Vertebra Angle and Lumbosacral Takeoff. ( 29413739 )
2018
32
The Duration of the correction loss after removing cheneau brace in patients with adolescent idiopathic scoliosis. ( 30459102 )
2018
33
Adolescent idiopathic scoliosis for the primary care physician: frequently asked questions. ( 30461512 )
2018
34
Long noncoding RNA lncAIS downregulation in mesenchymal stem cells is implicated in the pathogenesis of adolescent idiopathic scoliosis. ( 30464226 )
2018
35
Postural control of individuals with spinal fusion for adolescent idiopathic scoliosis. ( 30465967 )
2018
36
APSS-ASJ Best Clinical Research Award: Is There a Difference between Patients' and Parents' Perception of Physical Appearance in Adolescent Idiopathic Scoliosis? ( 30472823 )
2018
37
Does the Severity of the Curve in Lenke 1 and 2 Adolescent Idiopathic Scoliosis Patients Affect the Distance and Position of the Aorta from Vertebra? ( 30475346 )
2018
38
Alterations of the gut microbiome and plasma proteome in Chinese patients with adolescent idiopathic scoliosis. ( 30481617 )
2018
39
Case-matched comparative analysis of spinal deformity correction in arthrogryposis multiplex congenita versus adolescent idiopathic scoliosis. ( 30485184 )
2018
40
Noncontact sports participation in adolescent idiopathic scoliosis: effects on parent-reported and patient-reported outcomes. ( 30489444 )
2018
41
How Much Surface Registration Accuracy is Required Using Ct-based Navigation System in Adolescent Idiopathic Scoliosis Surgery? ( 30507639 )
2018
42
Determination of optimal screw number based on correction angle for main thoracic curve in adolescent idiopathic scoliosis. ( 30514594 )
2018
43
How Common Is Back Pain and What Biopsychosocial Factors Are Associated With Back Pain in Patients With Adolescent Idiopathic Scoliosis? ( 30516661 )
2018
44
Reconstruction and positional accuracy of 3D ultrasound on vertebral phantoms for adolescent idiopathic scoliosis spinal surgery. ( 30519871 )
2018
45
Factors That Influence In-brace Correction in Patients with Adolescent Idiopathic Scoliosis. ( 30529518 )
2018
46
Coronal Deformity Angular Ratio May Serve as A Valuable Parameter to Predict In-brace Correction in Patients with Adolescent Idiopathic Scoliosis. ( 30529785 )
2018
47
Lowest Instrumented Vertebrae Selection for Posterior Fusion of Lenke 5C Adolescent Idiopathic Scoliosis: Can We Stop the Fusion One Level Proximal to Lower-end Vertebra? ( 30532308 )
2018
48
Effects of spinal mobilization techniques in the management of adolescent idiopathic scoliosis - A meta-analysis. ( 30534043 )
2018
49
Assessment of fatty infiltration of the multifidus muscle in patients with adolescent idiopathic scoliosis through evaluation by magnetic resonance imaging compared with histological analysis: a diagnostic accuracy study. ( 30543559 )
2018
50
Which Side-Bending X-ray Position is Better to Evaluate the Preoperative Curve Flexibility in Adolescent Idiopathic Scoliosis Patients, Supine or Prone? ( 30060370 )
2018

Variations for Scoliosis, Isolated 1

ClinVar genetic disease variations for Scoliosis, Isolated 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPK7 NM_002749.3(MAPK7): c.886G> A (p.Ala296Thr) single nucleotide variant Pathogenic rs147296805 GRCh37 Chromosome 17, 19284408: 19284408
2 MAPK7 NM_002749.3(MAPK7): c.886G> A (p.Ala296Thr) single nucleotide variant Pathogenic rs147296805 GRCh38 Chromosome 17, 19381095: 19381095
3 MAPK7 NM_002749.3(MAPK7): c.1760C> T (p.Pro587Leu) single nucleotide variant Pathogenic rs758163506 GRCh37 Chromosome 17, 19285376: 19285376
4 MAPK7 NM_002749.3(MAPK7): c.1760C> T (p.Pro587Leu) single nucleotide variant Pathogenic rs758163506 GRCh38 Chromosome 17, 19382063: 19382063
5 MAPK7 NM_002749.3(MAPK7): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 19285559: 19285559
6 MAPK7 NM_002749.3(MAPK7): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 19382246: 19382246

Expression for Scoliosis, Isolated 1

Search GEO for disease gene expression data for Scoliosis, Isolated 1.

Pathways for Scoliosis, Isolated 1

GO Terms for Scoliosis, Isolated 1

Sources for Scoliosis, Isolated 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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