Coach Syndrome (COACHS)

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Disease Ontology 12 DOID:0111589 OMIM 56 216360 KEGG 36 H01001 MeSH 43 C536430 D001259 D002526 D003103 D008107 more ICD10 via Orphanet 33 Q04.3

UMLS via Orphanet 72 C1857662 Orphanet 58 ORPHA1454 MedGen 41 C1857662 SNOMED-CT via HPO 68 1023001 111266001 11934000 126851005 128602000 128613002 16294009 166603001 166643006 17541006 193662007 194021007 19943007 204958008 204962002 205131007 22006008 22066006 221360009 22325002 224958001 230745008 235886005 236423003 24184005 246545002 246635007 248583008 253983005 258211005 26079004 276617005 313307000 34742003 38341003 39302008 396232000 397540003 397790002 398151007 398152000 40159009 42376006 42399005 432119003 44295002 444896005 563001 59576002 61152003 62484002 64217002 66948001 708670007 75183008 79607001 7973008 80515008 82525005 84757009 85102008 85659009 86854008 90708001 91175000 92828000 93390002 93870000 95515009 more UMLS 71 C1857662

OMIM : ⁵⁶ COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see 213300) 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 (Brancati et al., 2009; Doherty et al., 2010). (216360)

MalaCards based summary : Coach Syndrome, also known as joubert syndrome with congenital hepatic fibrosis, is related to encephalocele and congenital hepatic fibrosis, and has symptoms including ataxia An important gene associated with Coach Syndrome is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include liver, eye and brain, and related phenotypes are ataxia and muscular hypotonia

Disease Ontology : ¹² A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has material basis in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).

NIH Rare Diseases : ⁵² 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 ). 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 .

KEGG : ³⁶ COACH syndrome is a rare autosomal recessive disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. The vermis hypoplasia comprises a part of a spectrum of mid-hindbrain malformation called the 'molar tooth sign' that is characteristic to Joubert syndrome.

UniProtKB/Swiss-Prot : ⁷³ COACH syndrome: A disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.

Wikipedia : ⁷⁴ COACH syndrome is a rare recessive genetic disease. The name is an acronym of the defining signs:... more...

Clinical features from OMIM:

216360

Search Clinical Trials , NIH Clinical Center for Coach Syndrome

Search GEO for disease gene expression data for Coach Syndrome.