Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
velocardiofacial syndrome
Summary
- Synonym
-
- Shprintzen syndrome
- VCF-Velocardiofacial syndrome
- Definition
- A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations.
- Super Class
- chromosomal deletion syndrome
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P47941 | Crk-like protein | |
| Q3TLI0 | Trafficking protein particle complex subunit 10 | |
| Q61614 | Endothelin-1 receptor | |
| Q9Z0E2 | Chordin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000262 | Turricephaly |
| HP:0000272 | Malar flattening |
| HP:0000276 | Long face |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000322 | Short philtrum |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
