MCID: SPN122
MIFTS: 13

Spondylocostal Dysostosis 2

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

Aliases & Classifications for Spondylocostal Dysostosis 2

MalaCards integrated aliases for Spondylocostal Dysostosis 2:

Name: Spondylocostal Dysostosis 2 54 30 6
Spondylocostal Dysostosis 2, Autosomal Recessive 54
Spondylocostal Dysostosis, Autosomal Recessive 2 74
Scdo2 54

Classifications:



External Ids:

UMLS 74 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). Affiliated tissues include bone.

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 30 MESP2

Anatomical Context for Spondylocostal Dysostosis 2

MalaCards organs/tissues related to Spondylocostal Dysostosis 2:

42
Bone

Publications for Spondylocostal Dysostosis 2

Articles related to Spondylocostal Dysostosis 2:

# Title Authors Year
1
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. ( 18485326 )
2008
2
Mutated MESP2 causes spondylocostal dysostosis in humans. ( 15122512 )
2004

Variations for Spondylocostal Dysostosis 2

ClinVar genetic disease variations for Spondylocostal Dysostosis 2:

6 (show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 MESP2 NM_001039958.2(MESP2): c.500_503dup (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh37 Chromosome 15, 90320088: 90320091
2 MESP2 NM_001039958.2(MESP2): c.500_503dup (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh38 Chromosome 15, 89776857: 89776860
3 MESP2 NM_001039958.2(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh37 Chromosome 15, 90319895: 90319895
4 MESP2 NM_001039958.2(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh38 Chromosome 15, 89776664: 89776664
5 MESP2 NM_001039958.2(MESP2): c.373C> G (p.Leu125Val) single nucleotide variant Pathogenic rs71647806 GRCh37 Chromosome 15, 90319961: 90319961
6 MESP2 NM_001039958.2(MESP2): c.373C> G (p.Leu125Val) single nucleotide variant Pathogenic rs71647806 GRCh38 Chromosome 15, 89776730: 89776730
7 MESP2 NM_001039958.2(MESP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs118204035 GRCh37 Chromosome 15, 90320288: 90320288
8 MESP2 NM_001039958.2(MESP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs118204035 GRCh38 Chromosome 15, 89777057: 89777057
9 MESP2 NM_001039958.2(MESP2): c.670T> C (p.Ser224Pro) single nucleotide variant Benign rs118204033 GRCh37 Chromosome 15, 90320258: 90320258
10 MESP2 NM_001039958.2(MESP2): c.670T> C (p.Ser224Pro) single nucleotide variant Benign rs118204033 GRCh38 Chromosome 15, 89777027: 89777027
11 MESP2 NM_001039958.2(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh37 Chromosome 15, 90319785: 90319785
12 MESP2 NM_001039958.2(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh38 Chromosome 15, 89776554: 89776554
13 MESP2 NM_001039958.2(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Likely pathogenic rs118204034 GRCh37 Chromosome 15, 90319829: 90319829
14 MESP2 NM_001039958.2(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Likely pathogenic rs118204034 GRCh38 Chromosome 15, 89776598: 89776598
15 MESP2 NM_001039958.2(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh37 Chromosome 15, 90319859: 90319859
16 MESP2 NM_001039958.2(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh38 Chromosome 15, 89776628: 89776628
17 MESP2 NM_001039958.2(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh37 Chromosome 15, 90319973: 90319973
18 MESP2 NM_001039958.2(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh38 Chromosome 15, 89776742: 89776742
19 MESP2 NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) NT expansion Benign rs397507446 GRCh37 Chromosome 15, 90320123: 90320134
20 MESP2 NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) NT expansion Benign rs397507446 GRCh38 Chromosome 15, 89776892: 89776903
21 MESP2 NM_001039958.2(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh38 Chromosome 15, 89777028: 89777028
22 MESP2 NM_001039958.2(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh37 Chromosome 15, 90320259: 90320259
23 MESP2 NM_001039958.2(MESP2): c.885G> C (p.Thr295=) single nucleotide variant Likely benign rs761196555 GRCh38 Chromosome 15, 89777242: 89777242
24 MESP2 NM_001039958.2(MESP2): c.885G> C (p.Thr295=) single nucleotide variant Likely benign rs761196555 GRCh37 Chromosome 15, 90320473: 90320473
25 MESP2 NM_001039958.2(MESP2): c.957G> A (p.Ser319=) single nucleotide variant Likely benign rs752665246 GRCh38 Chromosome 15, 89778097: 89778097
26 MESP2 NM_001039958.2(MESP2): c.957G> A (p.Ser319=) single nucleotide variant Likely benign rs752665246 GRCh37 Chromosome 15, 90321328: 90321328
27 MESP2 NM_001039958.2(MESP2): c.11C> A (p.Ser4Ter) single nucleotide variant Likely pathogenic rs1555439013 GRCh37 Chromosome 15, 90319599: 90319599
28 MESP2 NM_001039958.2(MESP2): c.11C> A (p.Ser4Ter) single nucleotide variant Likely pathogenic rs1555439013 GRCh38 Chromosome 15, 89776368: 89776368
29 MESP2 NM_001039958.2(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla) duplication Uncertain significance rs1468688261 GRCh37 Chromosome 15, 90319773: 90319773
30 MESP2 NM_001039958.2(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla) duplication Uncertain significance rs1468688261 GRCh38 Chromosome 15, 89776543: 89776554
31 MESP2 NM_001039958.2(MESP2): c.546_557del (p.Gln202_Gly205del) deletion Uncertain significance rs397507446 GRCh37 Chromosome 15, 90320122: 90320134
32 MESP2 NM_001039958.2(MESP2): c.546_557del (p.Gln202_Gly205del) deletion Uncertain significance rs397507446 GRCh38 Chromosome 15, 89776903: 89776914
33 MESP2 NM_001039958.2(MESP2): c.586C> T (p.Gln196Ter) single nucleotide variant Likely pathogenic rs1555439118 GRCh37 Chromosome 15, 90320174: 90320174
34 MESP2 NM_001039958.2(MESP2): c.586C> T (p.Gln196Ter) single nucleotide variant Likely pathogenic rs1555439118 GRCh38 Chromosome 15, 89776943: 89776943
35 MESP2 NM_001039958.2(MESP2): c.921C> G (p.Tyr307Ter) single nucleotide variant Uncertain significance rs766664800 GRCh37 Chromosome 15, 90320509: 90320509
36 MESP2 NM_001039958.2(MESP2): c.921C> G (p.Tyr307Ter) single nucleotide variant Uncertain significance rs766664800 GRCh38 Chromosome 15, 89777278: 89777278
37 MESP2 NM_001039958.2(MESP2): c.948_949del (p.Cys317Serfs) deletion Uncertain significance rs757634059 GRCh37 Chromosome 15, 90321318: 90321320
38 MESP2 NM_001039958.2(MESP2): c.948_949del (p.Cys317Serfs) deletion Uncertain significance rs757634059 GRCh38 Chromosome 15, 89778088: 89778089
39 MESP2 NM_001039958.2(MESP2): c.48G> A (p.Trp16Ter) single nucleotide variant Likely pathogenic rs912110093 GRCh37 Chromosome 15, 90319636: 90319636
40 MESP2 NM_001039958.2(MESP2): c.48G> A (p.Trp16Ter) single nucleotide variant Likely pathogenic rs912110093 GRCh38 Chromosome 15, 89776405: 89776405
41 MESP2 NM_001039958.2(MESP2): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs762067626 GRCh37 Chromosome 15, 90319838: 90319838
42 MESP2 NM_001039958.2(MESP2): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs762067626 GRCh38 Chromosome 15, 89776607: 89776607
43 MESP2 NM_001039958.2(MESP2): c.997A> T (p.Arg333Ter) single nucleotide variant Uncertain significance rs1555439250 GRCh37 Chromosome 15, 90321368: 90321368
44 MESP2 NM_001039958.2(MESP2): c.997A> T (p.Arg333Ter) single nucleotide variant Uncertain significance rs1555439250 GRCh38 Chromosome 15, 89778137: 89778137
45 MESP2 NM_001039958.2(MESP2): c.258_261del (p.Glu88Glyfs) deletion Likely pathogenic rs1452984345 GRCh37 Chromosome 15, 90319843: 90319847
46 MESP2 NM_001039958.2(MESP2): c.258_261del (p.Glu88Glyfs) deletion Likely pathogenic rs1452984345 GRCh38 Chromosome 15, 89776615: 89776618
47 MESP2 NM_001039958.2(MESP2): c.343_344dup (p.Gly116Profs) duplication Likely pathogenic rs1555439061 GRCh37 Chromosome 15, 90319930: 90319930
48 MESP2 NM_001039958.2(MESP2): c.343_344dup (p.Gly116Profs) duplication Likely pathogenic rs1555439061 GRCh38 Chromosome 15, 89776700: 89776701
49 MESP2 NM_001039958.2(MESP2): c.1017dup (p.Gly340Argfs) duplication Uncertain significance rs772586292 GRCh37 Chromosome 15, 90321383: 90321383
50 MESP2 NM_001039958.2(MESP2): c.1017dup (p.Gly340Argfs) duplication Uncertain significance rs772586292 GRCh38 Chromosome 15, 89778157: 89778157

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

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