IS3
MCID: SCL049
MIFTS: 17

Scoliosis, Isolated 3 (IS3)

Categories: Bone diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Scoliosis, Isolated 3

MalaCards integrated aliases for Scoliosis, Isolated 3:

Name: Scoliosis, Isolated 3 57
Scoliosis, Idiopathic 3 29 13 6
Is3 57 72
Scoliosis, Idiopathic, Susceptibility to, Type 3 39
Scoliosis, Isolated, Susceptibility to, 3 57
Idiopathic Scoliosis 3 72

Classifications:



External Ids:

OMIM® 57 608765
MeSH 44 D012600
MedGen 41 C1837461

Summaries for Scoliosis, Isolated 3

OMIM® : 57 Idiopathic scoliosis, an abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees, affects approximately 2 to 3% of the worldwide population and has a heritable component (summary by Bashiardes et al., 2004). For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800). (608765) (Updated 05-Apr-2021)

MalaCards based summary : Scoliosis, Isolated 3, also known as scoliosis, idiopathic 3, is related to helix syndrome and rapidly involuting congenital hemangioma. An important gene associated with Scoliosis, Isolated 3 is CHD7 (Chromodomain Helicase DNA Binding Protein 7).

UniProtKB/Swiss-Prot : 72 Idiopathic scoliosis 3: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.

Related Diseases for Scoliosis, Isolated 3

Diseases in the Scoliosis, Isolated 1 family:

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

Diseases related to Scoliosis, Isolated 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.0
2 rapidly involuting congenital hemangioma 10.0
3 scoliosis, isolated 1 9.9
4 scoliosis 9.9
5 idiopathic scoliosis 9.9

Graphical network of the top 20 diseases related to Scoliosis, Isolated 3:



Diseases related to Scoliosis, Isolated 3

Symptoms & Phenotypes for Scoliosis, Isolated 3

Clinical features from OMIM®:

608765 (Updated 05-Apr-2021)

Drugs & Therapeutics for Scoliosis, Isolated 3

Search Clinical Trials , NIH Clinical Center for Scoliosis, Isolated 3

Genetic Tests for Scoliosis, Isolated 3

Genetic tests related to Scoliosis, Isolated 3:

# Genetic test Affiliating Genes
1 Scoliosis, Idiopathic 3 29

Anatomical Context for Scoliosis, Isolated 3

Publications for Scoliosis, Isolated 3

Articles related to Scoliosis, Isolated 3:

# Title Authors PMID Year
1
CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. 57
17436250 2007
2
SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis. 57
15088139 2004
3
New neurologic deficit and recovery rates in the treatment of complex pediatric spine deformities exceeding 100 degrees or treated by vertebral column resection (VCR). 61
33034889 2021
4
Evaluation of thoracic vertebrae rotation in patients with pectus excavatum. 61
28624480 2017
5
Prediction of Curve Progression in Idiopathic Scoliosis: Validation of the Sanders Skeletal Maturity Staging System. 61
26356067 2015
6
Efficacy of bracing versus observation in the treatment of idiopathic scoliosis. 61
23637679 2011
7
Curve characteristics in monozygotic twins with adolescent idiopathic scoliosis: 3 new twin pairs and a review of the literature. 61
11817878 2001

Variations for Scoliosis, Isolated 3

ClinVar genetic disease variations for Scoliosis, Isolated 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.4994G>A (p.Trp1665Ter) SNV Pathogenic 1032764 GRCh37: 8:61757566-61757566
GRCh38: 8:60845007-60845007
2 CHD7 NM_017780.4(CHD7):c.1666-3238A>G SNV Uncertain significance 2030 rs4738824 GRCh37: 8:61690321-61690321
GRCh38: 8:60777762-60777762

Expression for Scoliosis, Isolated 3

Search GEO for disease gene expression data for Scoliosis, Isolated 3.

Pathways for Scoliosis, Isolated 3

GO Terms for Scoliosis, Isolated 3

Sources for Scoliosis, Isolated 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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