MCID: SPN121
MIFTS: 9

Spondylocostal Dysostosis 1

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

Aliases & Classifications for Spondylocostal Dysostosis 1

MalaCards integrated aliases for Spondylocostal Dysostosis 1:

Name: Spondylocostal Dysostosis 1 50
Spondylocostal Dysostosis 1 Autosomal Recessive 50
Jarcho-Levin Syndrome 69
Scdo1 50

Classifications:



Summaries for Spondylocostal Dysostosis 1

MalaCards based summary : Spondylocostal Dysostosis 1, also known as spondylocostal dysostosis 1 autosomal recessive, is related to spondylocostal dysostosis 1, autosomal recessive and spondylocostal dysostosis 2, autosomal recessive. An important gene associated with Spondylocostal Dysostosis 1 is DLL3 (Delta Like Canonical Notch Ligand 3).

Symptoms & Phenotypes for Spondylocostal Dysostosis 1

Drugs & Therapeutics for Spondylocostal Dysostosis 1

Search Clinical Trials , NIH Clinical Center for Spondylocostal Dysostosis 1

Genetic Tests for Spondylocostal Dysostosis 1

Anatomical Context for Spondylocostal Dysostosis 1

Publications for Spondylocostal Dysostosis 1

Variations for Spondylocostal Dysostosis 1

ClinVar genetic disease variations for Spondylocostal Dysostosis 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DLL3 NM_016941.3(DLL3): c.599_603dupGCGGT (p.Pro202Alafs) duplication Pathogenic rs786200899 GRCh38 Chromosome 19, 39503004: 39503008
2 DLL3 NM_016941.3(DLL3): c.945_946delAT (p.Ala317Argfs) deletion Pathogenic rs786200900 GRCh38 Chromosome 19, 39505303: 39505304
3 DLL3 NM_016941.3(DLL3): c.1154G> A (p.Gly385Asp) single nucleotide variant Pathogenic rs104894674 GRCh37 Chromosome 19, 39997739: 39997739
4 DLL3 NM_016941.3(DLL3): c.1291_1307dup17 (p.Pro437Thrfs) duplication Pathogenic rs786200901 GRCh38 Chromosome 19, 39507236: 39507252
5 DLL3 NM_016941.3(DLL3): c.618delC (p.Cys207Alafs) deletion Pathogenic rs786200902 GRCh38 Chromosome 19, 39503023: 39503023
6 DLL3 NM_016941.3(DLL3): c.712C> T (p.Arg238Ter) single nucleotide variant Pathogenic rs104894675 GRCh37 Chromosome 19, 39994770: 39994770
7 DLL3 NM_016941.3(DLL3): c.1440delG (p.Pro481Argfs) deletion Pathogenic rs786200903 GRCh38 Chromosome 19, 39507385: 39507385
8 DLL3 NM_016941.3(DLL3): c.1511G> A (p.Gly504Asp) single nucleotide variant Pathogenic rs104894676 GRCh37 Chromosome 19, 39998096: 39998096

Expression for Spondylocostal Dysostosis 1

Search GEO for disease gene expression data for Spondylocostal Dysostosis 1.

Pathways for Spondylocostal Dysostosis 1

GO Terms for Spondylocostal Dysostosis 1

Sources for Spondylocostal Dysostosis 1

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