SCDO2
MCID: SPN307
MIFTS: 20

Spondylocostal Dysostosis 2, Autosomal Recessive (SCDO2)

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

Aliases & Classifications for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards integrated aliases for Spondylocostal Dysostosis 2, Autosomal Recessive:

Name: Spondylocostal Dysostosis 2, Autosomal Recessive 57 75
Spondylocostal Dysostosis, Autosomal Recessive 2 13 73
Scdo2 57 75
Dysostosis, Spondylocostal, Autosomal Recessive, Type 2 40

Characteristics:

HPO:

32
spondylocostal dysostosis 2, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 608681
MedGen 42 C1837549
MeSH 44 D004413
SNOMED-CT via HPO 69 258211005 95427009 205455005
UMLS 73 C1837549

Summaries for Spondylocostal Dysostosis 2, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Spondylocostal dysostosis 2, autosomal recessive: A condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life.

MalaCards based summary : Spondylocostal Dysostosis 2, Autosomal Recessive, also known as spondylocostal dysostosis, autosomal recessive 2, is related to spondylocostal dysostosis 2 and spondylocostal dysostosis, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 2, Autosomal Recessive is MESP2 (Mesoderm Posterior BHLH Transcription Factor 2). Affiliated tissues include bone and testes, and related phenotypes are short neck and recurrent respiratory infections

OMIM : 57 Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (277300). (608681)

Related Diseases for Spondylocostal Dysostosis 2, Autosomal Recessive

Symptoms & Phenotypes for Spondylocostal Dysostosis 2, Autosomal Recessive

Clinical features from OMIM:

608681

Human phenotypes related to Spondylocostal Dysostosis 2, Autosomal Recessive:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 recurrent respiratory infections 32 HP:0002205
3 disproportionate short-trunk short stature 32 HP:0003521
4 vertebral segmentation defect 32 HP:0003422
5 rib fusion 32 HP:0000902
6 restrictive deficit on pulmonary function testing 32 very rare (1%) HP:0002111

Drugs & Therapeutics for Spondylocostal Dysostosis 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 2, Autosomal Recessive

Genetic Tests for Spondylocostal Dysostosis 2, Autosomal Recessive

Anatomical Context for Spondylocostal Dysostosis 2, Autosomal Recessive

MalaCards organs/tissues related to Spondylocostal Dysostosis 2, Autosomal Recessive:

41
Bone, Testes

Publications for Spondylocostal Dysostosis 2, Autosomal Recessive

Variations for Spondylocostal Dysostosis 2, Autosomal Recessive

ClinVar genetic disease variations for Spondylocostal Dysostosis 2, Autosomal Recessive:

6 (show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 MESP2 NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh37 Chromosome 15, 90320088: 90320091
2 MESP2 NM_001039958.1(MESP2): c.500_503dupACCG (p.Gly169Profs) duplication Pathogenic rs113994158 GRCh38 Chromosome 15, 89776857: 89776860
3 MESP2 NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh37 Chromosome 15, 90319895: 90319895
4 MESP2 NM_001039958.1(MESP2): c.307G> T (p.Glu103Ter) single nucleotide variant Pathogenic rs71647808 GRCh38 Chromosome 15, 89776664: 89776664
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.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh37 Chromosome 15, 90319785: 90319785
10 MESP2 NM_001039958.1(MESP2): c.197C> G (p.Ala66Gly) single nucleotide variant Benign/Likely benign rs71647809 GRCh38 Chromosome 15, 89776554: 89776554
11 MESP2 NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Likely pathogenic rs118204034 GRCh37 Chromosome 15, 90319829: 90319829
12 MESP2 NM_001039958.1(MESP2): c.241G> T (p.Gly81Ter) single nucleotide variant Likely pathogenic rs118204034 GRCh38 Chromosome 15, 89776598: 89776598
13 MESP2 NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh37 Chromosome 15, 90319859: 90319859
14 MESP2 NM_001039958.1(MESP2): c.271A> G (p.Lys91Glu) single nucleotide variant Pathogenic rs113994156 GRCh38 Chromosome 15, 89776628: 89776628
15 MESP2 NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh37 Chromosome 15, 90319973: 90319973
16 MESP2 NM_001039958.1(MESP2): c.385A> T (p.Ile129Phe) single nucleotide variant Pathogenic rs113994157 GRCh38 Chromosome 15, 89776742: 89776742
17 MESP2 NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) NT expansion Benign rs397507446 GRCh37 Chromosome 15, 90320123: 90320134
18 MESP2 NM_001039958.1(MESP2): c.535_546[(2_4)] (p.Gly205_Arg206insGlnGlyGlnGly) NT expansion Benign rs397507446 GRCh38 Chromosome 15, 89776892: 89776903
19 MESP2 NM_001039958.1(MESP2): c.670T> C (p.Ser224Pro) single nucleotide variant Benign rs118204033 GRCh37 Chromosome 15, 90320258: 90320258
20 MESP2 NM_001039958.1(MESP2): c.670T> C (p.Ser224Pro) single nucleotide variant Benign rs118204033 GRCh38 Chromosome 15, 89777027: 89777027
21 MESP2 NM_001039958.1(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh38 Chromosome 15, 89777028: 89777028
22 MESP2 NM_001039958.1(MESP2): c.671C> T (p.Ser224Phe) single nucleotide variant Benign/Likely benign rs71647807 GRCh37 Chromosome 15, 90320259: 90320259
23 MESP2 NM_001039958.1(MESP2): c.885G> C (p.Thr295=) single nucleotide variant Likely benign rs761196555 GRCh38 Chromosome 15, 89777242: 89777242
24 MESP2 NM_001039958.1(MESP2): c.885G> C (p.Thr295=) single nucleotide variant Likely benign rs761196555 GRCh37 Chromosome 15, 90320473: 90320473
25 MESP2 NM_001039958.1(MESP2): c.957G> A (p.Ser319=) single nucleotide variant Likely benign rs752665246 GRCh38 Chromosome 15, 89778097: 89778097
26 MESP2 NM_001039958.1(MESP2): c.957G> A (p.Ser319=) single nucleotide variant Likely benign rs752665246 GRCh37 Chromosome 15, 90321328: 90321328
27 MESP2 NM_001039958.1(MESP2): c.11C> A (p.Ser4Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 90319599: 90319599
28 MESP2 NM_001039958.1(MESP2): c.11C> A (p.Ser4Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 89776368: 89776368
29 MESP2 NM_001039958.1(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla) duplication Uncertain significance GRCh37 Chromosome 15, 90319773: 90319773
30 MESP2 NM_001039958.1(MESP2): c.186_197dup (p.Ala68_Thr69insGluAlaAlaAla) duplication Uncertain significance GRCh38 Chromosome 15, 89776543: 89776554
31 MESP2 NM_001039958.1(MESP2): c.546_557del12 (p.Gln202_Gly205del) deletion Uncertain significance GRCh37 Chromosome 15, 90320122: 90320134
32 MESP2 NM_001039958.1(MESP2): c.546_557del12 (p.Gln202_Gly205del) deletion Uncertain significance GRCh38 Chromosome 15, 89776903: 89776914
33 MESP2 NM_001039958.1(MESP2): c.586C> T (p.Gln196Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 90320174: 90320174
34 MESP2 NM_001039958.1(MESP2): c.586C> T (p.Gln196Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 89776943: 89776943
35 MESP2 NM_001039958.1(MESP2): c.921C> G (p.Tyr307Ter) single nucleotide variant Uncertain significance rs766664800 GRCh37 Chromosome 15, 90320509: 90320509
36 MESP2 NM_001039958.1(MESP2): c.921C> G (p.Tyr307Ter) single nucleotide variant Uncertain significance rs766664800 GRCh38 Chromosome 15, 89777278: 89777278
37 MESP2 NM_001039958.1(MESP2): c.948_949delCT (p.Cys317Serfs) deletion Uncertain significance GRCh37 Chromosome 15, 90321318: 90321320
38 MESP2 NM_001039958.1(MESP2): c.948_949delCT (p.Cys317Serfs) deletion Uncertain significance GRCh38 Chromosome 15, 89778088: 89778089
39 MESP2 NM_001039958.1(MESP2): c.48G> A (p.Trp16Ter) single nucleotide variant Likely pathogenic rs912110093 GRCh37 Chromosome 15, 90319636: 90319636
40 MESP2 NM_001039958.1(MESP2): c.48G> A (p.Trp16Ter) single nucleotide variant Likely pathogenic rs912110093 GRCh38 Chromosome 15, 89776405: 89776405
41 MESP2 NM_001039958.1(MESP2): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs762067626 GRCh37 Chromosome 15, 90319838: 90319838
42 MESP2 NM_001039958.1(MESP2): c.250C> T (p.Gln84Ter) single nucleotide variant Likely pathogenic rs762067626 GRCh38 Chromosome 15, 89776607: 89776607
43 MESP2 NM_001039958.1(MESP2): c.997A> T (p.Arg333Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 15, 90321368: 90321368
44 MESP2 NM_001039958.1(MESP2): c.997A> T (p.Arg333Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 15, 89778137: 89778137
45 MESP2 NM_001039958.1(MESP2): c.258_261delCAGC (p.Glu88Glyfs) deletion Likely pathogenic GRCh37 Chromosome 15, 90319843: 90319847
46 MESP2 NM_001039958.1(MESP2): c.258_261delCAGC (p.Glu88Glyfs) deletion Likely pathogenic GRCh38 Chromosome 15, 89776615: 89776618
47 MESP2 NM_001039958.1(MESP2): c.343_344dup (p.Gly116Profs) duplication Likely pathogenic GRCh37 Chromosome 15, 90319930: 90319930
48 MESP2 NM_001039958.1(MESP2): c.343_344dup (p.Gly116Profs) duplication Likely pathogenic GRCh38 Chromosome 15, 89776700: 89776701
49 MESP2 NM_001039958.1(MESP2): c.1017dup (p.Gly340Argfs) duplication Uncertain significance GRCh37 Chromosome 15, 90321383: 90321383
50 MESP2 NM_001039958.1(MESP2): c.1017dup (p.Gly340Argfs) duplication Uncertain significance GRCh38 Chromosome 15, 89778157: 89778157

Expression for Spondylocostal Dysostosis 2, Autosomal Recessive

Search GEO for disease gene expression data for Spondylocostal Dysostosis 2, Autosomal Recessive.

Pathways for Spondylocostal Dysostosis 2, Autosomal Recessive

GO Terms for Spondylocostal Dysostosis 2, Autosomal Recessive

Sources for Spondylocostal Dysostosis 2, Autosomal Recessive

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