MCID: SPN122
MIFTS: 10

Spondylocostal Dysostosis 2

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

Aliases & Classifications for Spondylocostal Dysostosis 2

MalaCards integrated aliases for Spondylocostal Dysostosis 2:

Name: Spondylocostal Dysostosis 2 53 29 6
Spondylocostal Dysostosis 2, Autosomal Recessive 53
Spondylocostal Dysostosis, Autosomal Recessive 2 73
Scdo2 53

Classifications:



External Ids:

UMLS 73 C1837549

Summaries for Spondylocostal Dysostosis 2

MalaCards based summary : Spondylocostal Dysostosis 2, also known as spondylocostal dysostosis 2, autosomal recessive, is related to spondylocostal dysostosis 2, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 2 is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2).

Related Diseases for Spondylocostal Dysostosis 2

Symptoms & Phenotypes for Spondylocostal Dysostosis 2

Drugs & Therapeutics for Spondylocostal Dysostosis 2

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 2

Genetic Tests for Spondylocostal Dysostosis 2

Genetic tests related to Spondylocostal Dysostosis 2:

# Genetic test Affiliating Genes
1 Spondylocostal Dysostosis 2 29 MESP2

Anatomical Context for Spondylocostal Dysostosis 2

Publications for Spondylocostal Dysostosis 2

Variations for Spondylocostal Dysostosis 2

ClinVar genetic disease variations for Spondylocostal Dysostosis 2:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 MESP2 NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh38 Chromosome 15, 89776664: 89776664
2 MESP2 NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh37 Chromosome 15, 90320088: 90320091
3 MESP2 NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh38 Chromosome 15, 89776857: 89776860
4 MESP2 NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh37 Chromosome 15, 90319895: 90319895
5 MESP2 NM_001039958.1(MESP2): c.373C> G (p.Leu125Val) single nucleotide variant Pathogenic rs71647806 GRCh37 Chromosome 15, 90319961: 90319961
6 MESP2 NM_001039958.1(MESP2): c.373C> G (p.Leu125Val) single nucleotide variant Pathogenic rs71647806 GRCh38 Chromosome 15, 89776730: 89776730
7 MESP2 NM_001039958.1(MESP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs118204035 GRCh37 Chromosome 15, 90320288: 90320288
8 MESP2 NM_001039958.1(MESP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs118204035 GRCh38 Chromosome 15, 89777057: 89777057
9 MESP2 NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Pathogenic rs118204034 GRCh37 Chromosome 15, 90319829: 90319829
10 MESP2 NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Pathogenic rs118204034 GRCh38 Chromosome 15, 89776598: 89776598
11 MESP2 NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh37 Chromosome 15, 90319859: 90319859
12 MESP2 NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh38 Chromosome 15, 89776628: 89776628
13 MESP2 NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh37 Chromosome 15, 90319973: 90319973
14 MESP2 NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh38 Chromosome 15, 89776742: 89776742

Expression for Spondylocostal Dysostosis 2

Search GEO for disease gene expression data for Spondylocostal Dysostosis 2.

Pathways for Spondylocostal Dysostosis 2

GO Terms for Spondylocostal Dysostosis 2

Sources for Spondylocostal Dysostosis 2

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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