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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 410 | ARSA | arylsulfatase A | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 3340 | NDST1 | N-deacetylase and N-sulfotransferase 1 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 9993 | DGCR2 | DiGeorge syndrome critical region gene 2 | |
| 27163 | NAAA | N-acylethanolamine acid amidase | |
| 130749 | CPO | carboxypeptidase O |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000501 | Glaucoma |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
