An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Silfhout, Anneke T. Vulto-van; Ravenswaaij, Conny M. A. van; Hehir-Kwa, Jayne Y.; Verwiel, Eugène; Dirks, Rita; Vooren, Steven Van; Schinzel, Albert; Vries, Bert B.A. de; Leeuw, Nicole de

doi:10.1016/j.ejmg.2013.06.010

Cited by 25 publications

(19 citation statements)

References 10 publications

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“…The European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA, http://www.ecaruca.net), initiated in 2003, is an online database that collects and provides detailed, curated clinical and molecular information on rare unbalanced chromosome aberrations that are considered to be likely causative for the patient’s phenotype (26). The objective of ECARUCA is to improve the knowledge of rare chromosome aberrations both for medical and research purposes.…”

Section: Clinical Integration and Usementioning

confidence: 99%

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

et al. 2013

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The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities and 13,326 subclass relations between the HPO classes. In addition we have developed logical definitions for 46% of all HPO classes using terms from ontologies for anatomy, cell types, function, embryology, pathology and other domains. This allows interoperability with several resources, especially those containing phenotype information on model organisms such as mouse and zebrafish. Here we describe the updated HPO database, which provides annotations of 7,278 human hereditary syndromes listed in OMIM, Orphanet and DECIPHER to classes of the HPO. Various meta-attributes such as frequency, references and negations are associated with each annotation. Several large-scale projects worldwide utilize the HPO for describing phenotype information in their datasets. We have therefore generated equivalence mappings to other phenotype vocabularies such as LDDB, Orphanet, MedDRA, UMLS and phenoDB, allowing integration of existing datasets and interoperability with multiple biomedical resources. We have created various ways to access the HPO database content using flat files, a MySQL database, and Web-based tools. All data and documentation on the HPO project can be found online.

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Section: Clinical Integration and Usementioning

confidence: 99%

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

et al. 2013

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“…Public databases, such as ECARUCA, 63 DECIPHER, 42 ISCA, 64 PubMed, and the Database of Genomic Variants, 65 are available to check whether newly identified CNVs already exist in healthy or diseased individuals. A systematic analysis of CNVs recorded in the DECIPHER database showed that CNV-associated phenotypes overlap more frequently than expected by chance with those of Mendelian diseases caused by single genes that are located within or adjacent to the reported CNVs.…”

Section: Copy Number Variant Analysismentioning

confidence: 99%

Genetic, environmental, and epigenetic factors involved in CAKUT

et al. 2015

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Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of structural renal malformations and are the leading cause of end-stage renal disease in children. The genetic diagnosis of CAKUT has proven to be challenging due to genetic and phenotypic heterogeneity and incomplete genetic penetrance. Monogenic causes of CAKUT have been identified using different approaches, including single gene screening, and gene panel and whole exome sequencing. The majority of the identified mutations, however, lack substantial evidence to support a pathogenic role in CAKUT. Copy number variants or single nucleotide variants that are associated with CAKUT have also been identified. Numerous studies support the influence of epigenetic and environmental factors on kidney development and the natural history of CAKUT, suggesting that the pathogenesis of this syndrome is multifactorial. In this Review we describe the current knowledge regarding the genetic susceptibility underlying CAKUT and the approaches used to investigate the genetic basis of CAKUT. We outline the associated environmental risk factors and epigenetic influences on CAKUT and discuss the challenges and strategies used to fully address the involvement and interplay of these factors in the pathogenesis of the disease.

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“…The 18q deletion syndrome (MIM#601808) results from terminal deletion or macrodeletion of the long arm of chromosome 18. Clinically, patients present intellectual disability, reduced white matter myelination, foot deformities, congenital aural atresia, and distinctive facial features (Table ) . All the hallmark features of the syndrome were present in our patient.…”

Section: Discussionmentioning

confidence: 57%

“…The review of the previously published cases with subtelomeric duplication at 19p suggests that this aberration is linked with developmental delay and dysmorphy, which were observed in our patient as well. However, as none of the reported patients with dup19p is shown to have suffered from an immune disorder and/or diabetes , it is unlikely that this genetic defect is associated with autoimmunity characteristics in our patient.…”

Section: Discussionmentioning

confidence: 69%

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

et al. 2014

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A girl with 18q deletion syndrome was diagnosed with autoimmune diabetes mellitus and Hashimoto's thyroiditis at the age of 3 yr. In addition, the girl suffered from recurrent infections due to immunoglobulin A and IgG4 deficiency. She was also found to have CD3+CD4+FoxP3+, CD3+CD4+FoxP3+CD25+, and CD3+CD4+CD25+CD127 regulatory T cells deficiency. The exceptional coincidence of the two autoimmune disorders occurring at an early age, and associated with immune deficiency, implies that genes located on deleted 19.4 Mbp region at 18q21.32-q23 (chr18:58,660,699-78,012,870) might play a role in the pathogenesis of autoimmunity leading to β cell destruction and diabetes.

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An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

Cited by 25 publications

References 10 publications

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Genetic, environmental, and epigenetic factors involved in CAKUT

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

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