DiGeorge syndrome
Information
- Disease name
- DiGeorge syndrome
- Disease ID
- DOID:11198
- Description
- "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." [url:http\://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome, url:https\://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01220531 | Approved for marketing | Thymus Transplantation Safety-Efficacy | |||
| NCT00105274 | Completed | Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study | March 7, 2005 | February 2, 2010 | |
| NCT02787486 | Completed | Expanded Noninvasive Genomic Medical Assessment: The Enigma Study | October 2015 | September 2018 | |
| NCT00566488 | Completed | Phase 1 | Parathyroid and Thymus Transplantation in DiGeorge #931 | January 2005 | December 2019 |
| NCT00576407 | Completed | Phase 2 | Thymus Transplantation in DiGeorge Syndrome #668 | October 1991 | December 31, 2017 |
| NCT00576836 | Completed | Phase 2 | Thymus Transplantation Dose in DiGeorge #932 | September 2, 2004 | December 31, 2019 |
| NCT00579709 | Completed | Phase 1 | Thymus Transplantation With Immunosuppression | July 2002 | December 2019 |
| NCT02381457 | Completed | SNP-based Microdeletion and Aneuploidy RegisTry (SMART) | April 2015 | June 2020 | |
| NCT00004351 | Completed | Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes | September 1999 | ||
| NCT00556530 | Recruiting | Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome | July 2016 | July 2029 | |
| NCT01821781 | Recruiting | Phase 2 | Immune Disorder HSCT Protocol | March 2013 | March 2027 |
| NCT00278005 | Terminated | Infection in DiGeorge Following CHD Surgery | January 1998 | March 2008 | |
| NCT00395538 | Terminated | Phase 3 | Effects of PTH Replacement on Bone in Hypoparathyroidism | October 30, 2006 | October 4, 2017 |
| NCT02430584 | Unknown status | Whole Blood Specimen Collection From Pregnant Subjects | March 2015 | May 2021 | |
| NCT00005102 | Unknown status | Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome | January 1995 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:10299
- Cross Reference ID (Disease Ontology)
- ICD10CM:D82.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:279.11
- Cross Reference ID (Disease Ontology)
- MESH:D004062
- Cross Reference ID (Disease Ontology)
- MIM:188400
- Cross Reference ID (Disease Ontology)
- NCI:C2989
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190991007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0012236
- Exact Synonym (Disease Ontology)
- 22q11.2 deletion syndrome
- Exact Synonym (Disease Ontology)
- DiGeorge sequence
- Exact Synonym (Disease Ontology)
- DiGeorge's syndrome
- Exact Synonym (Disease Ontology)
- Pharyngeal pouch syndrome
- MeSH unique ID (MeSH (Medical Subject Headings))
- D004062