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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Knobloch syndrome


Other Names for this Disease
  • Myopia retinal detachment encephalocele
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Cause


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What causes Knobloch syndrome?

Some cases of Knobloch syndrome are caused by mutations in the COL18A1 gene.[1] This gene provides instructions for making a protein that is used to assemble type XVIII collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. The condition has also been linked to a specific region on chromosome 17, known as 17q11.2. However, researchers have not determined which gene in this region is associated with Knobloch syndrome.[2]
Last updated: 4/5/2010

References
  1. Knobloch syndrome, type I. OMIM database. January 27, 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=267750. Accessed 4/5/2010.
  2. Knobloch syndrome, type III. OMIM database. May 8, 2008; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=611948. Accessed 4/5/2010.