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.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

References in periodicals archive

Exome sequencing as a tool for Mendelian disease gene discovery.

Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders

And some symptoms linked to a Mendelian disease may also be signs of other diseases.

What's behind many mystery ailments?

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.

Mystery Diseases: Genes Give Clues

Unlocking Mendelian disease using exome sequencing.

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease

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.

Personalis introduces 3rd generation ACE Clinical Exome Test for inherited genetic disease

In contrast to Mendelian disease, complex traits are comprehensive consequence of a number of factors both genetic and environmental.

Single nucleotide polymorphisms of NLRP12 gene and association with non-specific digestive disorder in rabbit

From a genetics perspective, the clinical area that we as a diagnostics community understand most deeply is that of Mendelian disease.

Integrating clinical genomics into the standard of care for medical providers

Although WES isn't perfect for finding new disease-gene associations--it identifies new mendelian disease genes in approximately 60% of cases (Eur.

Gregor Mendel and 21st century medicine