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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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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


  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; Accessed 8/19/2009.
  2. Renpenning syndrome. Orphanet. 2006; Accessed 8/19/2009.
  3. Renpenning Syndrome 1. Online Mendelian Inheritance in Man (OMIM). 2008; 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; 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; Accessed 8/19/2009.
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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.