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22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Also Known As:
22q11 Deletion Syndromes; Deletion Syndrome, 22q11; Deletion Syndromes, 22q11; Syndrome, 22q11 Deletion; Syndromes, 22q11 Deletion
Networked: 43 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Related Diseases

1. Schizophrenia (Dementia Praecox)
2. IgA Deficiency
3. Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder)
4. Obsessive-Compulsive Disorder (Disorder, Obsessive-Compulsive)
5. Major Depressive Disorder (Major Depressive Disorders)

Experts

1. Boot, Erik: 5 articles (09/2015 - 01/2011)
2. Oskarsdóttir, Sólveig: 3 articles (01/2022 - 04/2007)
3. Borte, Stephan: 2 articles (01/2022 - 05/2014)
4. Hammarström, Lennart: 2 articles (01/2022 - 05/2014)
5. Abel, Kathryn M: 2 articles (09/2015 - 12/2012)
6. Bloemen, Oswald J N: 2 articles (09/2015 - 12/2012)
7. de Koning, Mariken B: 2 articles (09/2015 - 12/2012)
8. van Amelsvoort, Thérèse A M J: 2 articles (09/2015 - 12/2012)
9. van Duin, Esther D A: 2 articles (09/2015 - 12/2012)
10. Illingworth, Elizabeth: 2 articles (10/2013 - 11/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 22q11 Deletion Syndrome:
1. Proteins (Proteins, Gene)FDA Link
09/01/2010 - "The zinc finger DHHC domain-containing protein 8 (ZDHHC8) is located in the 22q11 microdeletion region and may contribute to the behavioral deficit associated with 22q11 deletion syndrome. "
12/01/2016 - "This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. "
03/05/2010 - "GABA(B) receptor subunit 1 binds to proteins affected in 22q11 deletion syndrome."
04/01/2007 - "The aims were to compare saliva secretion rate, buffer capacity, cariogenic bacteria, total protein, IgA, and electrolytes between patients with 22q11 deletion syndrome (22q11DS) and control subjects and to study correlations between saliva and serum levels of IgA and electrolytes in 22q11DS patients. "
01/01/2021 - ": 22q11DS 22q11 deletion syndrome; ACKR1 atypical chemokine receptor 1; AD Alzheimer disease; AQP aquaporin; ATP adenosine triphosphate; Aβ amyloid β; BAC bacterial artificial chromosome; BBB blood-brain barrier; C/EBP-α CCAAT/enhancer-binding protein α; cAMP cyclic adenosine monophosphate (or 3',5'-cyclic adenosine monophosphate); CD cluster of differentiation; CNS central nervous system; DSRED discosoma red; EAE experimental autoimmune encephalomyelitis; ECV304 immortalized endothelial cell line established from the vein of an apparently normal human umbilical cord; EGFP enhanced green fluorescent protein; ESAM endothelial cell-selective adhesion molecule; GLUT-1 glucose transporter 1; GVB gut-vascular barrier; H2B histone H2B; HAPP human amyloid precursor protein; HEK human embryonic kidney; JACOP junction-associated coiled coil protein; JAM junctional adhesion molecules; LYVE1 lymphatic vessel endothelial hyaluronan receptor 1; MADCAM1 mucosal vascular addressin cell adhesion molecule 1; MAPK mitogen-activated protein kinase; MCAO middle cerebral artery occlusion; MMP metalloprotease; MS multiple sclerosis; MUPP multi-PDZ domain protein; PATJ PALS-1-associated tight junction protein; PDGFR-α platelet-derived growth factor receptor α polypeptide; PDGFR-β platelet-derived growth factor receptor β polypeptide; RHO rho-associated protein kinase; ROCK rho-associated, coiled-coil-containing protein kinase; RT-qPCR real time quantitative polymerase chain reactions; PDGFR-β soluble platelet-derived growth factor receptor, β polypeptide; T24 human urinary bladder carcinoma cells; TG2576 transgenic mice expressing the human amyloid precursor protein; TNF-α tumor necrosis factor α; WTwild-type; ZO zonula occludens."
2. Immunoglobulin A (IgA)IBA
3. 3- iodo- 2- hydroxy- 6- methoxy- N- ((1- ethyl- 2- pyrrolidinyl)methyl)benzamideIBA
4. CytokinesIBA
5. Silver Sulfadiazine (SSD)FDA LinkGeneric
6. ElectrolytesIBA
7. BuffersIBA
8. Transcription Factors (Transcription Factor)IBA
9. Dopamine (Intropin)FDA LinkGeneric
10. CalciumIBA

Therapies and Procedures

1. Therapeutics
2. Bone Marrow Transplantation (Transplantation, Bone Marrow)
3. Ligation
4. Ambulatory Care (Outpatient Care)
5. Treatment Delay