MCID: SPN307
MIFTS: 19

Spondylocostal Dysostosis 2, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Metabolic 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 testes, and related phenotypes are short neck and rib fusion

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 rib fusion 32 HP:0000902
3 restrictive deficit on pulmonary function testing 32 very rare (1%) HP:0002111
4 recurrent respiratory infections 32 HP:0002205
5 vertebral segmentation defect 32 HP:0003422
6 disproportionate short-trunk short stature 32 HP:0003521

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
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 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, 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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7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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31 HMDB
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34 ICD10 via Orphanet
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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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