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 ?
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
And some symptoms linked to a Mendelian disease may also be signs of other diseases.
Researchers examined the health records of over 21,000 patients and were able to group them based on the likelihood that they shared the same Mendelian disease. They then looked at the DNA of the patient groups to see if they also shared a genetic mutation.
Avramopoulos et al., "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene," PLoS Genetics, vol.
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. Then the company proceeds by adding genes that have been more recently associated with Mendelian conditions, as well as genes determined likely to have as-yet undiscovered Mendelian associations.
(2003) Discovering Genotypes Underlying Human Phenotypes: Past Successes for Mendelian Disease, Future Approaches for Complex 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.