Details of Disease

General Information of Disease (ID: DISQXOF1)

Disease Name COACH syndrome 1
Synonyms cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Definition Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
Disease Hierarchy
DISVDRSD: COACH syndrome
DISQXOF1: COACH syndrome 1
Disease Identifiers
MONDO ID
MONDO_0800103
UMLS CUI
C5435651
OMIM ID
216360
MedGen ID
1769861

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMEM67 OTME92T5 Definitive Autosomal recessive [1]
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References

1 Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet. 2007 Jun;121(5):591-9. doi: 10.1007/s00439-007-0341-3. Epub 2007 Mar 22.