Details of Disease

General Information of Disease (ID: DISHK3DO)

Disease Name Lethal congenital contracture syndrome 4
Synonyms
LCCS4; lethal congenital contracture syndrome caused by mutation in MYBPC1; lethal congenital contracture syndrome type 4; MYBPC1 lethal congenital contracture syndrome; lethal congenital contracture syndrome 4
Definition Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.
Disease Hierarchy
DIS489GT: Lethal congenital contracture syndrome
DISHK3DO: Lethal congenital contracture syndrome 4
Disease Identifiers
MONDO ID
MONDO_0013965
UMLS CUI
C3554046
OMIM ID
614915
MedGen ID
766960

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
MYBPC1 OTRPN93S Strong Autosomal recessive [1]
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References

1 Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7.