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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
DiGeorge syndrome
Summary
- Synonym
-
- 22q11.2 deletion syndrome
- DiGeorge sequence
- DiGeorge's syndrome
- Pharyngeal pouch syndrome
- Definition
- A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:11198
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
-
- 4868120
- 3587030
- 3610986
- 3610987
- 3619802
- 3623411
- 3623923
- 3628757
- 3629227
- 3703705
- 3850161
- 3587029
- 5312912
- 5447056
- 5476432
- 5487398
- 5505393
- 5618862
- 5620189
- 5645264
- 5648021
- 5766948
- 3046805
- 2451320
- 2676545
- 2680668
- 3033772
- 3037863
- 3046796
- 3046797
- 3046798
- 3046801
- 3046803
- 2175797
- 3047228
- 3510311
- 3510312
- 3510313
- 3510314
- 3522704
- 3586912
- 3586914
- 3586915
- 3587028
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1399 | CRKL | CRK like proto-oncogene, adaptor protein | |
| 1793 | DOCK1 | dedicator of cytokinesis 1 | |
| 1855 | DVL1 | dishevelled segment polarity protein 1 | |
| 2253 | FGF8 | fibroblast growth factor 8 | |
| 3200 | HOXA3 | homeobox A3 | |
| 3340 | NDST1 | N-deacetylase and N-sulfotransferase 1 | |
| 7048 | TGFBR2 | transforming growth factor beta receptor 2 | |
| 7353 | UFD1 | ubiquitin recognition factor in ER associated degradation 1 | |
| 7422 | VEGFA | vascular endothelial growth factor A | |
| 7994 | KAT6A | lysine acetyltransferase 6A |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12667 | Chrd | chordin | |
| 12929 | Crkl | v-crk avian sarcoma virus CT10 oncogene homolog-like | |
| 13542 | Dvl1 | dishevelled segment polarity protein 1 | |
| 14179 | Fgf8 | fibroblast growth factor 8 | |
| 15531 | Ndst1 | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 | |
| 18100 | Mrpl40 | mitochondrial ribosomal protein L40 | |
| 21813 | Tgfbr2 | transforming growth factor, beta receptor II | |
| 22339 | Vegfa | vascular endothelial growth factor A | |
| 27886 | Ess2 | ess-2 splicing factor | |
| 67784 | Plxnd1 | plexin D1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30682 | vegfaa | vascular endothelial growth factor Aa | |
| 65089 | fgf8b | fibroblast growth factor 8b | |
| 570459 | ndst1b | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b | |
| 100329944 | ndst1a | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001136 | Retinal arteriolar tortuosity |
| HP:0001161 | Hand polydactyly |
| HP:0001166 | Arachnodactyly |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001263 | Global developmental delay |
| HP:0001281 | Tetany |
| HP:0001300 | Parkinsonism |
