Online Mendelian Inheritance in Man OMIM

Online Mendelian Inheritance in Man (OMIM) Center for Medical Genetics, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, 1997. http //www.ncbi.nlm.nih.gov/omim/... 

Mutations associated with inheritable diseases are numbered in MIM notation as described in McKusick, V. A. Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders, 12th edn. Baltimore Johns Hopkins University Press, 1998. An updated Internet version is found at Online Mendelian Inheritance in Man, OMIM . McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000, www.ncbi.nlm.nih.gov/ omim/. 

Three different rare genetic metabolic defects in sialic acid metabolism are known, as indicated in Fig. 4.3.2 [3, 21] (1) free sialic acid storage disease (SASD Online Mendelian Inheritance in Man, OMIM 604369, 269920), a lysosomal membrane transporter defect (2) sialuria (OMIM 269921), a feedback inhibition defect in sialic acid biosynthesis (3) sialidosis (OMIM 256550), a breakdown defect of sialyloli-gosaccharides caused by a defect of lysosomal sialidase. In all these genetic defects, an increased amount of sialic acid can be found in tissues and or body fluids, either bound to OGSs as in (3), or in its free state as in (1) and (2). 

At present it has been postulated that between 30-50 and 95% of the population risk for development of AD may be attributed to genetic factors (21,24). However, when the autosomal dominant mutation cases of high penetrance are considered, that percentage drops to less than 5% (21). The most comprehensive and current lists of all mutations that may be considered as AD genetic determinants or risk factors are maintained by Online Mendelian Inheritance in Man (OMIM) (25) and Alzheimer Disease Mutation Database (ADMB) (26). 

SMART (Simple Modular Architecture Research Tool) [12-14] is a Web-based resource used for the annotation of protein domains and the analysis of domain architectures, with particular emphasis on mobile eukaryotic domains. Extensive annotation for each domain family is available, providing information relating to function, subcellular localization, phyletic distribution and tertiary structure. The January 2002 release has added more than 200 hand-curated domain models. This brings the total to over 600 domain families that are widely represented among nuclear, signalling and extracellular proteins. Annotation now includes links to the Online Mendelian Inheritance in Man (OMIM) database in cases where a human disease is associated with one or more mutations in a particular domain, (http //smart, embl-heidelberg. de/help/smart about. shtml)... 

Online Mendelian Inheritance in Man (OMIM) indicates that the development of colorectal carcinomas involves a dominantly acting oncogene coupled with the loss of several genes (such as DCC) that normally suppress tumorigenesis. 

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A (2014) OMIM.org Online Mendelian Inheritance in Man (OMIM ), an online catalog of human genes and genetic... 

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