|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Point mutations in the CHD7 gene are causal in CHARGE syndrome (a developmental disorder causing coloboma, heart defects, atresia choanae, retardation of growth, and genital and ear anomalies) and interrupt the epigenetic functions of CHD7 in regulating neural stem cell maintenance and development.
|
30629778 |
2019 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome.
|
29168327 |
2017 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this study, we screened CHD7 in two Turkish patients demonstrating symptoms of CHARGE syndrome such as coloboma, heart defect, choanal atresia, retarded growth, genital abnomalities and ear anomalies.
|
26551301 |
2016 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital hypoplasia, ear anomalies) syndrome, have been reported in patients presenting with Kallmann syndrome (KS) or congenital hypogonadotropic hypogonadism (CHH).
|
25077900 |
2014 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Since 2004, CHD7 mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of CHD7 mutations is only now gradually emerging.
|
25257999 |
2014 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects.
|
23677905 |
2013 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We confirmed that bilateral large retinochoroidal colobomata represents a typical ophthalmic feature of CHARGE syndrome in patients with confirmed CHD7 mutations; however, even eyes with large colobomata can form maculas.
|
22302456 |
2012 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Using a 13-day sequence and analysis pipeline, we discovered direct disruption of CHD7, a causal locus in the CHARGE syndrome (coloboma of the eye, heart anomaly, atresia of the choanae, retardation, and genital and ear anomalies).
|
23215558 |
2012 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The Chd7-positive regions in the chick embryos and the anatomical defects commonly seen in patients with CHARGE syndrome were well correlated: expression in the optic placode corresponded with defects such as coloboma, neural tube with mental retardation, and otic placode with ear abnormalities.
|
21338411 |
2011 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals.
|
20186815 |
2010 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CHD7, a chromodomain gene, are present in a majority of individuals with CHARGE syndrome, a multiple anomaly disorder characterized by ocular Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia and Ear anomalies.
|
19279158 |
2009 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These optimised parameters were then applied to an MRI screen of embryos heterozygous for the gene Chd7, implicated in coloboma of the eye, heart defects, atresia of the choanae, retardation of growth, genital/urinary abnormalities, ear abnormalities and deafness (CHARGE) syndrome (a condition partly characterised by cardiovascular birth defects in humans).
|
19598179 |
2009 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
Another member of the chromatin-remodeling gene family, CHD7, has been associated with a defined constellation of congenital anomalies known as coloboma, heart anomaly, choanal atresia, mental retardation, genital and ear anomalies syndrome (CHARGE) and idiopathic scoliosis.
|
18386809 |
2008 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Further fine mapping in the region revealed significant evidence of disease-associated haplotypes (P<1.0 x 10-4) centering over exons 2-4 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome of multiple developmental anomalies.
|
17436250 |
2007 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
CHD7 mutations have been identified in patients with CHARGE syndrome (coloboma, heart defects, choanal atresia, retarded growth, genital anomalies, and ear anomalies or deafness).
|
16932062 |
2006 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.
|
16400610 |
2006 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related.
|
14586282 |
2003 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
CHARGE association is a non-random occurrence of congenital malformations including coloboma, heart disease, choanal atresia, retarded growth and/or retarded development, genital hypoplasia, ear anomalies and/or deafness.
|
11940088 |
2002 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
Biomarker
|
disease |
BEFREE |
CHARGE association is the non-random association of congenital anomalies, including colobomata of the eyes, heart defects, choanal atresia, retardation of growth and development, genital hypoplasia and ear abnormalities.
|
7613237 |
1995 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).
|
2051459 |
1991 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A patient with the CHARGE association (Coloboma of the eye, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, and Ear anomalies or deafness) had intermittent hyperpnea and cerebellar hypoplasia; therefore, he had both the CHARGE association and Joubert syndrome.
|
1981467 |
1991 |
|
Congenital ocular coloboma (disorder)
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|