Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
spondylocarpotarsal synostosis syndrome
Summary
- Synonym
-
- SCT
- congenital scoliosis with unilateral unsegmented bar
- congenital synspondylism
- spondylocarpotarsal syndrome
- spondylocarpotarsal synostosis
- vertebral fusion with carpal coalition
- Definition
- A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3.
- Super Class
- autosomal recessive disease bone development disease spinal disease
External Links
- Disease Ontology
- DOID:0090116
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75390 | Citrate synthase, mitochondrial | |
| P04040 | Catalase | |
| P05362 | Intercellular adhesion molecule 1 | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P19320 | Vascular cell adhesion protein 1 |
