Details of Disease

General Information of Disease (ID: DISEEF7H)

Disease Name Lethal congenital contracture syndrome 11
Synonyms
lethal congenital contracture arthrogryposis-11; LCCS11; lethal congenital contracture syndrome 11; GLDN lethal congenital contracture syndrome; lethal congenital contracture syndrome type 11; lethal congenital contracture syndrome caused by mutation in GLDN; lethal congenital contracture syndrome 11; LCCS11
Definition Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene.
Disease Hierarchy
DIS489GT: Lethal congenital contracture syndrome
DISEEF7H: Lethal congenital contracture syndrome 11
Disease Identifiers
MONDO ID
MONDO_0014965
UMLS CUI
C4310670
OMIM ID
617194
MedGen ID
934637

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
GLDN OTA8TQU9 Strong Autosomal recessive [1]
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References

1 Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. Am J Hum Genet. 2016 Oct 6;99(4):928-933. doi: 10.1016/j.ajhg.2016.07.021. Epub 2016 Sep 8.