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Term:COACH Syndrome
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Accession:DOID:9004008 term browser browse the term
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Definition:COACH syndrome is an autosomal recessive disorder characterized by oligophrenia (mental retardation), ataxia due to cerebellar vermis hypo/aplasia, and hepatic fibrosis. Other features, such as ocular coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding. COACH syndrome is most commonly associated with compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (OMIM)
Synonyms:exact_synonym: Cerebellar Vermis Hypo-Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis;   Cerebellar vermis hypo-aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis;   Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis;   JOUBERT SYNDROME WITH CONGENITAL HEPATIC FIBROSIS
 alt_id: OMIM:216360
 replaced_by: DOID:0111589
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