IS5
MCID: SCL060
MIFTS: 10

Scoliosis, Isolated 5 (IS5)

Categories: Bone diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Scoliosis, Isolated 5

MalaCards integrated aliases for Scoliosis, Isolated 5:

Name: Scoliosis, Isolated 5 57
Scoliosis, Idiopathic, Susceptibility to, 5 57 13
Scoliosis, Isolated, Susceptibility to, 5 57
Scoliosis, Idiopathic 5 57
Is5 57

Classifications:



External Ids:

OMIM® 57 612239

Summaries for Scoliosis, Isolated 5

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). For a discussion of genetic heterogeneity of isolated scoliosis, see IS1 (181800). (612239) (Updated 05-Apr-2021)

MalaCards based summary : Scoliosis, Isolated 5, also known as scoliosis, idiopathic, susceptibility to, 5, is related to proline-negative auxotroph of hamster, complementation of and helix syndrome. An important gene associated with Scoliosis, Isolated 5 is IS5 (Scoliosis, Idiopathic, Susceptibility To, 5).

Related Diseases for Scoliosis, Isolated 5

Diseases in the Scoliosis, Isolated 1 family:

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

Diseases related to Scoliosis, Isolated 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 proline-negative auxotroph of hamster, complementation of 10.0
2 helix syndrome 10.0

Symptoms & Phenotypes for Scoliosis, Isolated 5

Clinical features from OMIM®:

612239 (Updated 05-Apr-2021)

Drugs & Therapeutics for Scoliosis, Isolated 5

Search Clinical Trials , NIH Clinical Center for Scoliosis, Isolated 5

Genetic Tests for Scoliosis, Isolated 5

Anatomical Context for Scoliosis, Isolated 5

Publications for Scoliosis, Isolated 5

Articles related to Scoliosis, Isolated 5:

# Title Authors PMID Year
1
Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2-q34.2 and 17q25.3-qtel. 57
17932119 2008

Variations for Scoliosis, Isolated 5

Expression for Scoliosis, Isolated 5

Search GEO for disease gene expression data for Scoliosis, Isolated 5.

Pathways for Scoliosis, Isolated 5

GO Terms for Scoliosis, Isolated 5

Sources for Scoliosis, Isolated 5

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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