Details of Disease

General Information of Disease (ID: DIS12DC6)

Disease Name Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Synonyms AMCNMY; arthrogryposis multiplex congenita, neurogenic, with myelin defect
Disease Hierarchy
DISMCQP6: Arthrogryposis multiplex congenita
DIS12DC6: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Disease Identifiers
MONDO ID
MONDO_0060486
UMLS CUI
C4479539
OMIM ID
617468
MedGen ID
1373185

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
LGI4 OTZGS8BN Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11. Int J Biol Sci. 2008;4(6):387-96. doi: 10.7150/ijbs.4.387. Epub 2008 Oct 21.