Spondylocostal dysostosis 1, autosomal recessive

Preferred Label : Spondylocostal dysostosis 1, autosomal recessive;

Symbol : SCDO1;

CISMeF acronym : SCDO1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondylothoracic dysostosis; Spondylothoracic dysplasia; Jarcho-levin syndrome; Vertebral anomalies; Costovertebral dysplasia;

Description : The spondylocostal dysostoses are a heterogeneous group of axial skeletal disorders characterized by multiple segmentation defects of the vertebrae (SDV), malalignment of the ribs with variable points of intercostal fusion, and often a reduction in rib number. The term 'spondylocostal dysostosis' is best applied to those phenotypes with generalized SDV and a broadly symmetric thoracic cage (summary by Gucev et al., 2010). - Genetic Heterogeneity Other forms of autosomal recessive SCDO include SCDO2 (608681), caused by mutation in the MESP2 gene (605195) on chromosome 15q26.1; SCDO3 (609813), caused by mutation in the LFNG gene (602576) on chromosome 7p22; and SCDO4 (613686), caused by mutation in the HES7 gene on chromosome 17p13.2. An autosomal dominant form of SCDO has also been described (SCDO5; 122600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the delta like canonical Notch ligand 3 gene (DLL3, 602768.0001);

Prefixed ID : #277300;

Details

Origin ID

277300;

UMLS CUI

C0265343;

Automatic exact mappings (from CISMeF team)
- Abnormal vertebral morphology [HPO term]
- DLL3 wt Allele [NCIt concept]
- delta like canonical Notch ligand 3 [ORDO Gene]
- delta like canonical Notch ligand 3 [HGNC gene]
Broader ORDO disease(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome [MeSH concept]
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis, autosomal recessive [MeSH concept]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [Disease (Nov.)]
- spondylocostal dysostosis [DO Concept]
DO Cross reference
- spondylocostal dysostosis [DO Concept]
Genes related to phenotype
- Delta-like canonical notch ligand 3 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Abnormality of the odontoid process [HPO term]
- Autosomal recessive inheritance [HPO term]
- Back pain [HPO term]
- Block vertebrae [HPO term]
- Death in infancy [HPO term]
- Disproportionate short-trunk short stature [HPO term]
- Dwarfism [HPO term]
- Hemivertebrae [HPO term]
- Kyphoscoliosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Rib fusion [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Short trunk [HPO term]
- Vertebral fusion [HPO term]
- Vertebral segmentation defect [HPO term]
ORDO concept(s)
- Autosomal recessive spondylocostal dysostosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jarcho-Levin syndrome [MeSH Supplementary Concept]
- Jarcho-Levin syndrome [MeSH concept]
- Jarcho-Levin syndrome [PASCAL descriptor]
- Jarcho-Levin syndrome [MedDRA LLT]
- Jarcho-Levin syndrome (disorder) [SNOMED CT concept]
- Spondylocostal Dysostosis [NCIt concept]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [ACR pathology]
- Spondylocostal dysostosis [PASCAL descriptor]
- Spondylocostal dysostosis [MedDRA Preferred Term]
- jarcho-levin syndrome [SNOMED Notion]
- spondylocostal dysostosis [DO Concept]
- spondylocostal dysostosis [Disease (Nov.)]
Validated automatic mappings to BTNT
- spondylocostal dysostosis, autosomal recessive [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Abnormality of the vertebral column [HPO term]
- Spondylocostal Dysostosis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients