SCDO2
MCID: SPN122
MIFTS: 15

Spondylocostal Dysostosis 2 (SCDO2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory 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 72
Scdo2 53

Classifications:



External Ids:

UMLS 72 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

Articles related to Spondylocostal Dysostosis 2:

# Title Authors PMID Year
1
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. 38
20087400 2010
2
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. 38
18775957 2008

Variations for Spondylocostal Dysostosis 2

ClinVar genetic disease variations for Spondylocostal Dysostosis 2:

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MESP2 NM_001039958.2(MESP2): c.500_503dup (p.Gly169fs) duplication Pathogenic rs113994158 15:90320088-90320091 15:89776857-89776860
2 MESP2 NM_001039958.2(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 15:90319895-90319895 15:89776664-89776664
3 MESP2 NM_001039958.2(MESP2): c.373C> G (p.Leu125Val) single nucleotide variant Pathogenic rs71647806 15:90319961-90319961 15:89776730-89776730
4 MESP2 NM_001039958.2(MESP2): c.700G> T (p.Glu234Ter) single nucleotide variant Pathogenic rs118204035 15:90320288-90320288 15:89777057-89777057
5 MESP2 NM_001039958.2(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 15:90319973-90319973 15:89776742-89776742
6 MESP2 NM_001039958.2(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 15:90319859-90319859 15:89776628-89776628
7 MESP2 NM_001039958.2(MESP2): c.229G> T (p.Gly77Ter) single nucleotide variant Likely pathogenic rs538996447 15:90319817-90319817 15:89776586-89776586
8 MESP2 NM_001039958.2(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Likely pathogenic rs118204034 15:90319829-90319829 15:89776598-89776598
9 MESP2 NM_001039958.2(MESP2): c.349C> T (p.Gln117Ter) single nucleotide variant Likely pathogenic rs1555439063 15:90319937-90319937 15:89776706-89776706
10 MESP2 NM_001039958.2(MESP2): c.249_256dup (p.Ala86fs) duplication Likely pathogenic rs1555439049 15:90319832-90319832 15:89776606-89776613
11 MESP2 NM_001039958.2(MESP2): c.116C> A (p.Ser39Ter) single nucleotide variant Likely pathogenic rs1206731716 15:90319704-90319704 15:89776473-89776473
12 MESP2 NM_001039958.2(MESP2): c.737G> A (p.Trp246Ter) single nucleotide variant Likely pathogenic rs1555439152 15:90320325-90320325 15:89777094-89777094
13 MESP2 NM_001039958.2(MESP2): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs762067626 15:90319838-90319838 15:89776607-89776607
14 MESP2 NM_001039958.2(MESP2): c.48G> A (p.Trp16Ter) single nucleotide variant Likely pathogenic rs912110093 15:90319636-90319636 15:89776405-89776405
15 MESP2 NM_001039958.2(MESP2): c.343_344dup (p.Gly116fs) duplication Likely pathogenic rs1555439061 15:90319930-90319930 15:89776700-89776701
16 MESP2 NM_001039958.2(MESP2): c.258_261del (p.Glu88fs) deletion Likely pathogenic rs1452984345 15:90319843-90319847 15:89776615-89776618
17 MESP2 NM_001039958.2(MESP2): c.586C> T (p.Gln196Ter) single nucleotide variant Likely pathogenic rs1555439118 15:90320174-90320174 15:89776943-89776943
18 MESP2 NM_001039958.2(MESP2): c.11C> A (p.Ser4Ter) single nucleotide variant Likely pathogenic rs1555439013 15:90319599-90319599 15:89776368-89776368
19 MESP2 NM_001039958.2(MESP2): c.531_550del (p.Glu178fs) deletion Uncertain significance 15:90320119-90320138 15:89776888-89776907
20 MESP2 NM_001039958.2(MESP2): c.546_557del (p.180_181QG[11]) deletion Uncertain significance rs397507446 15:90320122-90320134 15:89776903-89776914
21 MESP2 NM_001039958.2(MESP2): c.192_203dup (p.Glu65_Ala68dup) duplication Uncertain significance rs1468688261 15:90319773-90319773 15:89776543-89776554
22 MESP2 NM_001039958.2(MESP2): c.997A> T (p.Arg333Ter) single nucleotide variant Uncertain significance rs1555439250 15:90321368-90321368 15:89778137-89778137
23 MESP2 NM_001039958.2(MESP2): c.948_949del (p.Cys317fs) deletion Uncertain significance rs757634059 15:90321318-90321320 15:89778088-89778089
24 MESP2 NM_001039958.2(MESP2): c.921C> G (p.Tyr307Ter) single nucleotide variant Uncertain significance rs766664800 15:90320509-90320509 15:89777278-89777278
25 MESP2 NM_001039958.2(MESP2): c.1151G> A (p.Trp384Ter) single nucleotide variant Uncertain significance rs1420321324 15:90321522-90321522 15:89778291-89778291
26 MESP2 NM_001039958.2(MESP2): c.1100_1101insT (p.Ser368fs) insertion Uncertain significance rs1555439287 15:90321471-90321471 15:89778240-89778241
27 MESP2 NM_001039958.2(MESP2): c.801_806del (p.Asp268_Ala269del) deletion Uncertain significance rs1555439163 15:90320387-90320393 15:89777158-89777163
28 MESP2 NM_001039958.2(MESP2): c.1144G> T (p.Glu382Ter) single nucleotide variant Uncertain significance rs1317833419 15:90321515-90321515 15:89778284-89778284
29 MESP2 NM_001039958.2(MESP2): c.1017dup (p.Gly340fs) duplication Uncertain significance rs772586292 15:90321383-90321383 15:89778157-89778157
30 MESP2 NM_001039958.2(MESP2): c.1155_1157AGA[1] (p.Glu386del) short repeat Uncertain significance rs543667424 15:90321524-90321527 15:89778298-89778300
31 MESP2 NM_001039958.2(MESP2): c.1073_1074ins16 insertion Uncertain significance rs1481361626 15:90321439-90321439 15:89778213-89778214
32 MESP2 NM_001039958.2(MESP2): c.916_917GT[1] (p.Tyr307fs) short repeat Uncertain significance rs1428605825 15:90320503-90320505 15:89777275-89777276
33 MESP2 NM_001039958.2(MESP2): c.718del (p.Val240fs) deletion Uncertain significance rs756232049 15:90320300-90320301 15:89777075-89777075
34 MESP2 NM_001039958.2(MESP2): c.600_605del (p.180_181QG[12]) deletion Uncertain significance rs1555439121 15:90320185-90320191 15:89776957-89776962
35 MESP2 NM_001039958.2(MESP2): c.558_593del (p.180_181QG[7]) deletion Uncertain significance rs771492607 15:90320137-90320173 15:89776915-89776950
36 MESP2 NM_001039958.2(MESP2): c.547_556del (p.Gly183Argfs) deletion Uncertain significance rs1555439104 15:90320120-90320144 15:89776904-89776913
37 MESP2 NM_001039958.2(MESP2): c.585_608del (p.180_181QG[9]) deletion Uncertain significance rs750330966 15:90320161-90320185 15:89776942-89776965
38 MESP2 NM_001039958.2(MESP2): c.640_643del (p.Val214fs) deletion Uncertain significance rs1468383573 15:90320225-90320229 15:89776997-89777000
39 MESP2 NM_001039958.2(MESP2): c.885G> C (p.Thr295=) single nucleotide variant Likely benign rs761196555 15:90320473-90320473 15:89777242-89777242
40 MESP2 NM_001039958.2(MESP2): c.957G> A (p.Ser319=) single nucleotide variant Likely benign rs752665246 15:90321328-90321328 15:89778097-89778097
41 MESP2 NM_001039958.2(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 15:90319785-90319785 15:89776554-89776554
42 MESP2 NM_001039958.2(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 15:90320259-90320259 15:89777028-89777028
43 MESP2 NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) NT expansion Benign rs397507446 15:90320123-90320134 15:89776892-89776903
44 MESP2 NM_001039958.2(MESP2): c.670T> C (p.Ser224Pro) single nucleotide variant Benign rs118204033 15:90320258-90320258 15:89777027-89777027

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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