MCID: SPN121
MIFTS: 13

Spondylocostal Dysostosis 1

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

Aliases & Classifications for Spondylocostal Dysostosis 1

MalaCards integrated aliases for Spondylocostal Dysostosis 1:

Name: Spondylocostal Dysostosis 1 49
Spondylocostal Dysostosis, Autosomal Recessive, 1 13
Spondylocostal Dysostosis 1 Autosomal Recessive 49
Jarcho-Levin Syndrome 69
Scdo1 49

Classifications:



External Ids:

UMLS 69 C0265343

Summaries for Spondylocostal Dysostosis 1

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

Related Diseases for Spondylocostal Dysostosis 1

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

Articles related to Spondylocostal Dysostosis 1:

# Title Authors Year
1
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
2
Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls. ( 26199296 )
2015
3
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
4
Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases. ( 25792257 )
2015
5
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
6
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
7
A case of Jarcho-Levin syndrome associated with bilateral cystic renal disease and wilms tumor: MR imaging findings. ( 19863205 )
2009
8
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. ( 18485326 )
2008
9
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. ( 12833407 )
2003

Variations for Spondylocostal Dysostosis 1

ClinVar genetic disease variations for Spondylocostal Dysostosis 1:

6
# 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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67 TGDB
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70 UMLS via Orphanet
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