COACHS
MCID: CCH002
MIFTS: 55
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Coach Syndrome (COACHS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Coach Syndrome:
Characteristics:Orphanet epidemiological data:58
joubert syndrome with hepatic defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy genetic heterogeneity liver involvement can range from mild to severe renal involvement and coloboma may not be present considered to be part of the spectrum of joubert syndrome and meckel syndrome HPO:31
coach syndrome:
Inheritance autosomal recessive inheritance heterogeneous Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases
ICD10:
33
Orphanet: 58
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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 arima syndrome 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 hepatomegaly 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 intellectual disability , 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, also known as Joubert syndrome with hepatic defect, is a rare autosomal recessive... more... |
Human phenotypes related to Coach Syndrome:58 31 (show top 50) (show all 65)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:216360UMLS symptoms related to Coach Syndrome:ataxia MGI Mouse Phenotypes related to Coach Syndrome:45 (show all 11)
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Cochrane evidence based reviews: coach syndrome |
MalaCards organs/tissues related to Coach Syndrome:40
Liver,
Eye,
Brain,
Kidney,
Cerebellum,
Hypothalamus,
Pituitary
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Articles related to Coach Syndrome:(show all 33)
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ClinVar genetic disease variations for Coach Syndrome:6 (show all 43)
UniProtKB/Swiss-Prot genetic disease variations for Coach Syndrome:73 (show all 18)
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Search
GEO
for disease gene expression data for Coach Syndrome.
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Cellular components related to Coach Syndrome according to GeneCards Suite gene sharing:(show all 15)
Biological processes related to Coach Syndrome according to GeneCards Suite gene sharing:(show all 21)
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