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Genetic and Rare Diseases Information Center (GARD)

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COACH syndrome


Other Names for this Disease

  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Joubert syndrome with congenital hepatic fibrosis
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Overview

COACH syndrome is a condition that mainly affects the brain and liver.  Most individuals with COACH syndrome have mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia).  Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus).[1]  This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene.  COACH syndrome is considered a rare form of another condition, Joubert syndrome.[2]  
Last updated: 8/1/2012

References

  1. COACH syndrome. Online Mendelian Inheritance in Man. June 2010; http://omim.org/entry/216360. Accessed 7/26/2012.
  2. Joubert syndrome with hepatic defect. Orphanet. July 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1644&Disease_Disease_Search_diseaseGroup=COACH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&title=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&search=Disease_Search_Simple. Accessed 7/26/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss COACH syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
  • Joubert syndrome with congenital hepatic fibrosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.