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Renpenning syndrome 1


Other Names for this Disease
  • Mental retardation, X-linked Renpenning type
  • Mental retardation, X-linked, syndromic 8
  • MRXS3
  • MRXS8
  • RENS1
More Names
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Overview


Renpenning syndrome is an inherited X-linked mental retardation condition which most often presents in males.[1] It is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit.[1][2][3] Renpenning syndrome is caused by mutations in the polyglutamine tract binding protein 1 gene (PQBP1).[1][2][3][4] Treatment is symptomatic and supportive.[5] In 2005, it was proposed that the various X-linked mental retardation syndromes with PQBP1 mutations be combined under the name of Renpenning syndrome.[1][3]
Last updated: 8/20/2009

References

  1. Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Am J Med Genet A. 2005; http://www.ncbi.nlm.nih.gov/pubmed/15782410. Accessed 8/19/2009.
  2. Renpenning syndrome. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242. Accessed 8/19/2009.
  3. Renpenning Syndrome 1. Online Mendelian Inheritance in Man (OMIM). 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309500. Accessed 8/19/2009.
  4. Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. Am J Hum Genet. 2004; http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=15024694. Accessed 8/19/2009.
  5. Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. Am J Hum Genet. 1998; http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=9545405. Accessed 8/19/2009.
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Basic Information

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Renpenning syndrome 1. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Renpenning syndrome 1. Click on the link to view a sample search on this topic.