Other Names for this Disease
- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis
- Gentile syndrome
- Joubert syndrome with congenital hepatic fibrosis
- Joubert syndrome with hepatic defect
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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). 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.COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have
Last updated: 8/1/2012
- COACH syndrome. Online Mendelian Inheritance in Man. June 2010; http://omim.org/entry/216360. Accessed 7/26/2012.
- 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.
- 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.
- 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 COACH syndrome. Click on the link to view a sample search on this topic.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.