CRS2
MCID: MSX001
MIFTS: 10

Msx2-Related Craniosynostosis (CRS2) malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Msx2-Related Craniosynostosis

Aliases & Descriptions for Msx2-Related Craniosynostosis:

Name: Msx2-Related Craniosynostosis 24
Craniosynostosis, Type 2 24 69
Craniosynostosis, Boston Type 24
Craniosynostosis Type Ii 24
Crs2 24

Classifications:



Summaries for Msx2-Related Craniosynostosis

MalaCards based summary : Msx2-Related Craniosynostosis, also known as craniosynostosis, type 2, is related to craniosynostosis, type 2, and has symptoms including seizures An important gene associated with Msx2-Related Craniosynostosis is MSX2 (Msh Homeobox 2).

Related Diseases for Msx2-Related Craniosynostosis

Symptoms & Phenotypes for Msx2-Related Craniosynostosis

UMLS symptoms related to Msx2-Related Craniosynostosis:


seizures

Drugs & Therapeutics for Msx2-Related Craniosynostosis

Search Clinical Trials , NIH Clinical Center for Msx2-Related Craniosynostosis

Genetic Tests for Msx2-Related Craniosynostosis

Genetic tests related to Msx2-Related Craniosynostosis:

id Genetic test Affiliating Genes
1 Msx2-Related Craniosynostosis 24 MSX2

Anatomical Context for Msx2-Related Craniosynostosis

Publications for Msx2-Related Craniosynostosis

Variations for Msx2-Related Craniosynostosis

ClinVar genetic disease variations for Msx2-Related Craniosynostosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MSX2 NM_002449.4(MSX2): c.443C> A (p.Pro148His) single nucleotide variant Pathogenic rs104893895 GRCh37 Chromosome 5, 174156225: 174156225
2 MSX2 NM_002449.4(MSX2): c.443C> T (p.Pro148Leu) single nucleotide variant Pathogenic rs104893895 GRCh37 Chromosome 5, 174156225: 174156225

Expression for Msx2-Related Craniosynostosis

Search GEO for disease gene expression data for Msx2-Related Craniosynostosis.

Pathways for Msx2-Related Craniosynostosis

GO Terms for Msx2-Related Craniosynostosis

Sources for Msx2-Related Craniosynostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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