MCID: SPN121
MIFTS: 14

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 53
Dysostosis, Spondylocostal, Autosomal Recessive, Type 1 40
Spondylocostal Dysostosis, Autosomal Recessive, 1 13
Spondylocostal Dysostosis 1 Autosomal Recessive 53
Jarcho-Levin Syndrome 73
Scdo1 53

Classifications:



External Ids:

UMLS 73 C0265343

Summaries for Spondylocostal Dysostosis 1

MalaCards based summary : Spondylocostal Dysostosis 1, also known as dysostosis, spondylocostal, autosomal recessive, type 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:

(show all 16)
# Title Authors Year
1
Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid. ( 28608177 )
2017
2
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795 )
2017
3
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215 )
2015
4
Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls. ( 26199296 )
2015
5
Neural Tube Defects in Jarcho-Levin Syndrome: Study of Twenty-Eight Cases. ( 25792257 )
2015
6
Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature. ( 22408667 )
2011
7
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082 )
2011
8
[Jarcho-Levin syndrome associated with maternal hypothyroidism]. ( 22185858 )
2011
9
A case of Jarcho-Levin syndrome associated with bilateral cystic renal disease and wilms tumor: MR imaging findings. ( 19863205 )
2009
10
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho- Levin syndrome. ( 18485326 )
2008
11
Jarcho-Levin syndrome presenting with diaphragmatic hernia. ( 18629769 )
2008
12
Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: report of two Caucasian siblings and literature review. ( 12833407 )
2003
13
Detection of Jarcho-Levin syndrome at 12 weeks' gestation by nuchal translucency screening and three-dimensional ultrasound. ( 11360281 )
2001
14
Jarcho-Levin syndrome: report on a long-term follow-up of an untreated patient. ( 10218183 )
1999
15
Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby. ( 1466945 )
1992
16
Prenatal findings in a case of spondylocostal dysplasia type I (Jarcho-Levin syndrome). ( 3287253 )
1988

Variations for Spondylocostal Dysostosis 1

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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40 LOVD
42 MedGen
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45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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