Details of Disease

General Information of Disease (ID: DISLK30A)

Disease Name Coffin-Siris syndrome 5
Synonyms CSS5; COFFIN-SIRIS syndrome 5; Coffin-Siris syndrome 5; Coffin-Siris syndrome caused by mutation in SMARCE1; Coffin-Siris syndrome type 5; SMARCE1 Coffin-Siris syndrome
Definition Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
Disease Hierarchy
DIS8L03H: Coffin-Siris syndrome
DISQTWXD: BAFopathy
DISLK30A: Coffin-Siris syndrome 5
Disease Identifiers
MONDO ID
MONDO_0014838
UMLS CUI
C4310788
OMIM ID
616938
MedGen ID
934755

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
SMARCE1 OTAX4ITH Strong Autosomal dominant [1]
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References

1 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.