Details of Disease | DrugMAP

General Information of Disease (ID: DISZ1VXV)

Disease Name	Arthrogryposis multiplex congenita 3, myogenic type
Synonyms	AMCM; arthrogryposis multiplex congenita, myogenic type
Disease Hierarchy	DISMCQP6: Arthrogryposis multiplex congenita DISZ1VXV: Arthrogryposis multiplex congenita 3, myogenic type
Disease Identifiers	MONDO ID MONDO_0032778 UMLS CUI C5193121 OMIM ID 618484 MedGen ID 1680655

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
SYNE1	OTSBSLUH	Strong	Autosomal recessive	[1]
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References

1	Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Sep 15;18(18):3462-9. doi: 10.1093/hmg/ddp290. Epub 2009 Jun 19.