Details of Disease

General Information of Disease (ID: DISEUXXH)

Disease Name Lethal congenital contracture syndrome 8
Synonyms
LCCS8; lethal congenital contracture syndrome caused by mutation in ADCY6; ADCY6 lethal congenital contracture syndrome; lethal congenital contracture syndrome type 8; lethal congenital contracture syndrome 8
Definition Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene.
Disease Hierarchy
DIS489GT: Lethal congenital contracture syndrome
DISEUXXH: Lethal congenital contracture syndrome 8
Disease Identifiers
MONDO ID
MONDO_0014570
UMLS CUI
C4225385
OMIM ID
616287
MedGen ID
896058

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
ADCY6 OTFOY4WW Strong Autosomal recessive [1]
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References

1 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.