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Genetic and Rare Diseases Information Center (GARD)

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Schimke immunoosseous dysplasia


Other Names for this Disease
  • Immunoosseous dysplasia, schimke type
  • Schimke syndrome
  • SIOD
  • Spondyloepiphyseal dysplasia nephrotic syndrome
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Overview


Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system.   Growth failure is often the first sign of this condition.  Other features are usually detected in the evaluation for growth failure or in the following years.  The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern.  Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia.  However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present. [1] [2]
Last updated: 10/20/2010

References

  1. Schimke immuno-osseous dysplasia. Genetics Home Reference. November 2008; http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia. Accessed 10/19/2010.
  2. Leah I Elizondo, Thomas Luecke, MD, Cornelius F Boerkoel, MD, PhD. Schimke Immunoosseous Dysplasia . GeneReviews. December 7, 2006; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=siod. Accessed 10/19/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Schimke immunoosseous dysplasia. This website is maintained by the National Library of Medicine.

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 Schimke immunoosseous dysplasia. Click on the link to view a sample search on this topic.