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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]

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 August 19, 2009.
  2. Renpenning syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3242. Accessed August 19, 2009.
  3. Renpenning Syndrome 1. Online Mendelian Inheritance in Man (OMIM). http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309500. Accessed August 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 August 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 August 19, 2009.
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General Information

  • You can obtain comprehensive 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. Click on the link to read information on this condition.
  • Genetics Home Reference (GHR) contains information on Renpenning syndrome 1. Click on the link to go to GHR and review the information.
  • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
  • 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.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Renpenning syndrome 1. Click on the link to go to OMIM and review these resources.