|Name||DiGeorge syndrome chromosome region|
|Description||DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS; MIM 192430); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see MIM 601362). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.[supplied by OMIM, Aug 2009]|
|Synonyms||DGS, VCF, CATCH22|
|NCBI Gene ID||1714|
|Expression in Tissues and Cell Lines||
DGCR has 1 functional associations with biological entities spanning 1 categories (disease, phenotype or trait) extracted from 1 datasets.
Click the + buttons to view associations for DGCR from the datasets below.
If available, associations are ranked by standardized value
|CTD Gene-Disease Associations||diseases associated with DGCR gene/protein from the curated CTD Gene-Disease Associations dataset.|