Mendelian Inheritance in Man

McKusick VA Mendelian Inheritance in Man. Catalog of Human Genes and Genetic Disorders, 12th ed. Johns Hopkins Univ Press, 1998. [Abbreviated MIM]... 

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/... 

This table indicates the chromosomal location of several genes and the diseases associated with deficient or abnormal production of the gene products. The chromosome involved is indicated by the first number or letter. The other numbers and letters refer to precise localizations, as defined in McKusick VA Mendelian Inheritance in Man, 6th ed. John Hopkins Univ Press, 1983. 

MIM = Mendelian Inheritance in Man. Each number specifies a reference in which information regarding each of the above conditions can be found. 

OMIM Home Page—Online Mendelian Inheritance in Man 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/. 

Search engine of the National Center for Biotechnology Information, including a few databases PubMed (MEDLINE biomedical literature), PubMed Central (free digital archive of life sciences journal literature), Books, OMIM (Online Mendelian Inheritance in Man, a catalog of genetically linked diseases),... 

McKusick, V. (1998) Mendelian inheritance in man catalogs of human genes and genetic disorders, 12th ed., Johns Hopkins University Press, Baltimore. 

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). 

NPC1 Niemann-Pick disease type Cl, NPC2 Niemann-Pick disease type C2, OMIM Online Mendelian Inheritance in Man, P plasma, U urine... 

Table 5.1.1 Inherited disorders of isoprenoid/cholesterol biosynthesis. CDPX2 Conradi-Hunermann syndrome, CHILD congenital hemidysplasia with ichthyosiform nevus and limb defects, HEM hydrops-ectopic calcification-moth-eaten, MA/HIDS mevalonic aciduria/ hyperimmunoglobulinemia D and periodic fever syndrome, MIM Mendelian Inheritance in Man... 

HSD Hydroxysteroid dehydrogenase, OMIM Online Mendelian Inheritance in Man... 

HMBS hydroxymethylbilane-synthase, Intermediaries heptacarboxy-, hexacarboxy-and pentacarboxyporphyrins, MIM Nr Mendelian Inheritance in Man number, PCT porphyria cutanea tarda, Proto protoporphyrin IX, PV porphyria variegata, Uro uroporphyrin... 

Welcome to O fflLl, Online Mendelian Inheritance in Man. This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBL the National Center for Biotechnology Information. The database contains textual information and references. It also contains copious links to MEDLINE and sequence records in the Entrez system, and links to additional related resources atNCBI and elsewhere. 

McKusick, V. A. Mendelian Inheritance in Man, Jones Hopkins Univ. Press, Baltimore, 9751., 1978=... 

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). 

OMIM, Online Mendelian Inheritance in Man www.ncbi,nlm,nih.gov/entrez/query.fcgi db=OMIM) NBS, newborn screening 5-HIAA, 5-hydroxyindoleacetic add HVA, homovaniUic acid RFLP, restriction fragment length polymorphism. 

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