MCID: MSX001
MIFTS: 12

Msx2-Related Craniosynostosis malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Msx2-Related Craniosynostosis

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Aliases & Descriptions for Msx2-Related Craniosynostosis:

Name: Msx2-Related Craniosynostosis 22
Craniosynostosis Boston Type 22
 
Craniosynostosis, Type 2 22
Crs2 22


Classifications:



Summaries for Msx2-Related Craniosynostosis

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MalaCards based summary: Msx2-Related Craniosynostosis, also known as craniosynostosis boston type, is related to craniosynostosis, type 2 and craniosynostosis. An important gene associated with Msx2-Related Craniosynostosis is MSX2 (Msh Homeobox 2). Affiliated tissues include bone.

Related Diseases for Msx2-Related Craniosynostosis

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Symptoms for Msx2-Related Craniosynostosis

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Drugs & Therapeutics for Msx2-Related Craniosynostosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Msx2-Related Craniosynostosis

Genetic Tests for Msx2-Related Craniosynostosis

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Genetic tests related to Msx2-Related Craniosynostosis:

id Genetic test Affiliating Genes
1 Msx2-Related Craniosynostosis22 MSX2

Anatomical Context for Msx2-Related Craniosynostosis

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MalaCards organs/tissues related to Msx2-Related Craniosynostosis:

33
Bone

Animal Models for Msx2-Related Craniosynostosis or affiliated genes

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Publications for Msx2-Related Craniosynostosis

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Variations for Msx2-Related Craniosynostosis

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Clinvar genetic disease variations for Msx2-Related Craniosynostosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MSX2NM_002449.4(MSX2): c.443C> A (p.Pro148His)single nucleotide variantPathogenicrs104893895GRCh37Chr 5, 174156225: 174156225

Expression for genes affiliated with Msx2-Related Craniosynostosis

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

Pathways for genes affiliated with Msx2-Related Craniosynostosis

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GO Terms for genes affiliated with Msx2-Related Craniosynostosis

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Sources for Msx2-Related Craniosynostosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet