DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome.
|
17493297 |
2008 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome.
|
16734939 |
2007 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Velocardiofacial syndrome is a genetic disorder associated with a microdeletion on the long arm of chromosome 22, and this segment is responsible for coding catechol-O-methyltransferase, an enzyme involved in dopamine degradation.
|
17244108 |
2007 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome.
|
16734939 |
2007 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
|
16511839 |
2006 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
A gender-moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo-cardio-facial syndrome (22q11.2 deletion syndrome).
|
16511839 |
2006 |
DiGeorge Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
Several lines of evidence have implicated the catechol-O-methyltransferase (COMT) gene as a candidate for schizophrenia (SZ) susceptibility, not only because it encodes a key dopamine catabolic enzyme but also because it maps to the velocardiofacial syndrome region of chromosome 22q11 which has long been associated with SZ predisposition.
|
15505638 |
2005 |
DiGeorge Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The COMT gene has been suggested as a candidate gene for schizophrenia through linkage analyses and molecular studies of velo-cardio-facial syndrome.
|
15645182 |
2005 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Of special interest is the role of this gene in major psychoses especially since a microdeletion (22q11) containing the COMT gene (velo-cardio-facial syndrome) also carries with it several types of behavioral disorders, including an increased prevalence of schizophrenia.
|
12707935 |
2003 |
DiGeorge Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The gene encoding catechol-O-methyltransferase (COMT) is a strong candidate for schizophrenia susceptibility, owing to the role of COMT in dopamine metabolism, and the location of the gene within the deleted region in velocardiofacial syndrome, a disorder associated with high rates of schizophrenia.
|
12802784 |
2003 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
One of these is its biochemical function in metabolism of catecholamine neurotransmitters; another is the microdeletion, on chromosome 22q11, that includes the COMT gene and causes velocardiofacial syndrome, a syndrome associated with a high rate of psychosis, particularly schizophrenia.
|
12402217 |
2002 |
DiGeorge Syndrome
|
0.600 |
Biomarker
|
disease |
BEFREE |
The gene for COMT is located on chromosome 22q11, an area that has been implicated in the pathogenesis of schizophrenia through linkage studies and through the detection of deletions in schizophrenics and velocardiofacial syndrome patients that often present psychotic symptomatology.
|
12192614 |
2002 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that the COMT gene does not play a major role in the pathogenesis of schizophrenia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort.
|
10450274 |
1999 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Moreover, microdeletions including the COMT locus have been found in schizophrenics presenting typical features of the velo-cardio-facial syndrome.
|
10490696 |
1999 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A recent study in a small sample of patients with velo-cardio-facial syndrome who had bipolar affective disorder suggested that the Met (low activity) COMT allele might be associated with rapid-cycling in this population.
|
9702744 |
1998 |
DiGeorge Syndrome
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.
|
8886163 |
1996 |
DiGeorge Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome.
|
8886163 |
1996 |
DiGeorge Syndrome
|
0.600 |
ChromosomalRearrangement
|
disease |
ORPHANET |
|
|
|