Suchergebnisse

A database of the frequency of human inherited disorders is being established for use in a clinical context, in medical research, for epidemiological studies, and in the planning of genetic services. Each entry includes the disease name categorized by organ system, an Online Mendelian Inheritance in Man (OMIM) number, the mode of inheritance, the population origin, a prevalence and/or incidence rate and a literature reference. The Frequency of Inherited Disorders Database (FIDD) currently contains 1,580 entries relating to 280 different Mendelian disorders. FIDD will be prospectively maintained and can be accessed at http://www.uwcm.ac.uk/uwcm/mg/fidd/. A more refined and systematic literature search that will serve to expand the size, scope and scale of the database is currently in progress. The coverage of neurological and neuromuscular disorders is however considered to be nearly complete. In this first description of FIDD, Huntington disease was used to illustrate the structure and scope of the database as well as its potential scientific utility. A total of 100 published articles on the prevalence of Huntington disease were appraised. Prevalence and incidence rates varied between different ethnic groups and between different countries. Possible reasons for this variation are discussed.