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Genetic and Rare Diseases Information Center (GARD)

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Christianson syndrome


Other Names for this Disease

  • Angelman-like syndrome x-linked
  • Mental retardation microcephaly epilepsy and ataxia syndrome
  • Mental retardation x-linked syndromic Christianson type
  • MRXS Christianson
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Christianson syndrome is an X-linked mental retardation syndrome associated with microcephaly, seizures, ataxia, and absent speech.[1][2] Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome.[1] Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome.[1][2000] There appears to be a range of phenotypes in carrier females, from mental retardation to absence of symptoms.[1][2]
Last updated: 1/6/2010

References

  1. Mental Retardation, X-Linked, Syndromic, Christianson Type. Online Mendelian Inheritance in Man (OMIM). 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=300243. Accessed 1/6/2010.
  2. Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Am J Hum Genet. 2008; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427207/?tool=pubmed. Accessed 1/6/2010.
  3. Intellectual deficit, X-linked, South African type. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85278. Accessed 1/6/2010.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Christianson syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Angelman-like syndrome x-linked
  • Mental retardation microcephaly epilepsy and ataxia syndrome
  • Mental retardation x-linked syndromic Christianson type
  • MRXS Christianson
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.