Details of Disease | DrugMAP

General Information of Disease (ID: DIS7W18S)

Disease Name	Lethal arthrogryposis-anterior horn cell disease syndrome
Synonyms	lethal arthrogryposis with anterior horn cell disease; LAAHD; congenital arthrogryposis with anterior horn cell disease; Vuopala disease
Disease Hierarchy	DISMCQP6: Arthrogryposis multiplex congenita DIS7W18S: Lethal arthrogryposis-anterior horn cell disease syndrome
Disease Identifiers	MONDO ID MONDO_0012750 UMLS CUI C5193016 OMIM ID 611890 MedGen ID 1677784 Orphanet ID 53696

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
GLE1	OT0K44H1	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. doi: 10.1038/ng.2007.65. Epub 2008 Jan 20.