Genetic Disorders


Genetic disorders afflict between 1% and 4% of the newborn population, and the contribution of genes to public health problems rises considerably above this level in adults. Mutations are due to disruption of, or interference with, functional/structural networks of genes, ribonucleic acids and proteins. The identification of disease genes and pathogenetic mechanisms in genetic diseases is a goal of genetic medicine.

Keywords: genetic networks; mutation mechanisms; public health; human history

Further Reading

Al‐Jader LN, Harper PS, Krawczak M, et al. (2001) The frequency of inherited disorders database. Human Genetics 108: 72–74.

Borgaonkar DS (1997) Chromosomal Variation in Man, 8th edn. New York, NY: Wiley‐Liss.

Cavalli‐Sforza LL, Menozzi P and Piazza A (1994) The History and Geography of Human Genes. Princeton, NJ: Princeton University Press.

Cooper DN and Krawczak M (1993) Human Gene Mutation. Oxford, UK: Bios Scientific Publishers.

Gorlin RJ, Cohen Jr MM and Hennekam RCM (2001) Syndromes of the Head and Neck, 4th edn Oxford, UK: Oxford University Press.

Hamosh A, Scott AF, Amberger J, et al. (2002) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Research 30: 52–55.

Krawczak M, Ball EV, Fenton I, et al. (2000) Human Gene Mutation Database: a biomedical information and research resource. Human Mutation. 15: 45–51.

Mitchell SMS and Frayling TM (2002) The role of transcription factors in maturity‐onset diabetes of the young. Molecular Genetics and Metabolism 77: 35–43.

Rimoin DL, Connor JM, Pyeritz RE and Korf BR (eds.) (2002) Emery and Rimoin's Principles and Practice of Medical Genetics, 4th edn., 2 vols. London, UK: Churchill Livingstone.

Schinzel A (2001) Catalogue of Unbalanced Chromosome Aberrations in Man, 2nd edn. Berlin: Walter de Gruyter.

Scriver CR, Beaudet AL, Sly WS, et al. (eds.) (2001) The Metabolic and Molecular Bases of Inherited Disease, 8th edn, 4 vols. New York, NY: McGraw‐Hill.

Web Links

The Frequency of Inherited Disorders Database (FIDD). This database is prospectively maintained and contains some 1600 records on incidence and prevalence of human Mendelian disorders

The Human Gene Mutation Database (HGMD). This database as of 21 June 2002, covered 27927 mutations of 1163 genes, ordered by mutation type, with links to Medline (PubMed), and GDB, among others. It has links to about 250 open locus‐specific databases

Online Mendelian Inheritance in Man (OMIM) knowledgebase of human genes and disorders is the main tool of medical geneticists. It is ordered with 6‐digit numbers by (1) autosomal dominant, (2) recessive, (3) X‐linked, (4) Y‐linked and (5) mitochondrial inheritance. Entries starting with a 6 mostly cover proteins of genetic interest. There are a great number of links, e.g. to Medline, HGMD, Locus Link, Genome Database, and Mouse Genome Informatics and locus‐specific mutation databases. HBB, HNF4A and IPF1 (see text) are listed under the MIM numbers 141900, 600281 and 600733, respectively.

Transcriptional regulatory networks in Saccharomyces cerevisiae. This site supports a 2002 publication in Science and is a valuable resource for learning about regulatory network motifs and confirmed examples

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How to Cite close
Langenbeck, Ulrich(Jan 2006) Genetic Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005470]