Mendelian disease

Mendelian disease

A disease caused by a single mutated gene. Also known as a ‘single gene disorder’. Although some 5,000 such diseases are known, nearly all of them are comparatively rate. Some of the more common are CYSTIC FIBROSIS, SICKLE CELL DISEASE, THALASSAEMIA, HAEMOPHILIA, MARFAN'S SYNDROME, PHENYLKETONURIA, one form of RETINITIS PIGMENTOSA, DUCHENNE'S MUSCULAR ATROPHY, HUNTINGTON'S DISEASE and adult POLYCYSTIC DISEASE.
References in periodicals archive ?
Of these, Personalis augments the coverage of over 8,000 medically associated genes, beginning with 4,600 genes identified by the International Collaboration for Clinical Genomics as being related to Mendelian Disease.
In contrast to Mendelian disease, complex traits are comprehensive consequence of a number of factors both genetic and environmental.
From a genetics perspective, the clinical area that we as a diagnostics community understand most deeply is that of Mendelian disease.
Although WES isn't perfect for finding new disease-gene associations--it identifies new mendelian disease genes in approximately 60% of cases (Eur.
Linkage mapping (a gene hunting technique that attempts to identify gene regions that are found in people with disease more frequently than in those without the disease, by studying genetic markers of known chromosomal location that are co-inherited with the disease in a pedigree), which is a powerful tool for finding Mendelian disease genes, often produces weak, and sometimes inconsistent, signals in complex disease studies (27).
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.
Although the American College of Medical Genetics and Genomics guidelines provide a framework for the analysis of variants associated with Mendelian disease, their implementation in clinical diagnostic laboratories requires addressing the ambiguities associated with some lines of evidence.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.
This includes more than 600 genes that have yet to be associated with a Mendelian disease and all known Mendelian disorder genes.