Coach Syndrome 1 (COACH1)

Alias:

Coach Syndrome

Joubert Syndrome with Congenital Hepatic Fibrosis

Joubert Syndrome with Hepatic Defect

Gentile Syndrome

Js-H

Cerebellar Vermis Hypo/aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

Coach1

Cerebellar Vermis Hypo/aplasia Oligophrenia Congenital Ataxia Ocular Coloboma and Hepatic Fibrosis

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Coach Syndrome 1, also known as coach syndrome, is related to arima syndrome and meckel syndrome, type 3, and has symptoms including ataxia An important gene associated with Coach Syndrome 1 is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Loss of Nlp from mitotic centrosomes and Organelle biogenesis and maintenance. Affiliated tissues include liver and eye, and related phenotypes are ataxia and hypotonia

Related ID：

MALACARDS：CCH009

OMIM：216360

MESH：C536430