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COACHS
MCID: CCH002
MIFTS: 51
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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:60
joubert syndrome with hepatic defect
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM:58
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:33
coach syndrome:
Onset and clinical course infantile onset Inheritance heterogeneous autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Developmental anomalies during embryogenesis
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OMIM
:
58
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 congenital hepatic fibrosis and joubert syndrome 1, 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. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related phenotypes are ataxia and muscular hypotonia NIH Rare Diseases : 54 COACH syndromeis 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. UniProtKB/Swiss-Prot : 76 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 : 77 COACH syndrome is a rare recessive genetic disease. The name is an acronym of the defining signs:... more... |
Human phenotypes related to Coach Syndrome:60 33 (show top 50) (show all 64)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:216360UMLS symptoms related to Coach Syndrome:ataxia MGI Mouse Phenotypes related to Coach Syndrome:47
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Drugs for Coach Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Coach Syndrome:42
Liver,
Eye,
Brain,
Kidney,
Heart,
Cerebellum,
Hypothalamus
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Articles related to Coach Syndrome:(show all 23)
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Genes related to Coach Syndrome (4 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Coach Syndrome:76 (show all 18)
ClinVar genetic disease variations for Coach Syndrome:6 (show top 50) (show all 84)
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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:
Biological processes related to Coach Syndrome according to GeneCards Suite gene sharing:
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