Details of Disease | DrugMAP

General Information of Disease (ID: DIST0JEG)

Disease Name	Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Synonyms	EDMD3; EMERY-Dreifuss muscular dystrophy 3, autosomal recessive; autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; LMNA autosomal recessive Emery-Dreifuss muscular dystrophy
Definition	Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene.
Disease Hierarchy	DISFPEQA: Laminopathy DISYTPR5: Emery-Dreifuss muscular dystrophy DIST0JEG: Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014676 MESH ID C567633 UMLS CUI C2750035 OMIM ID 616516 MedGen ID 413212

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
LMNA	OT3SG7ZR	Strong	Autosomal recessive	[1]
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References

1	Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr;66(4):1407-12. doi: 10.1086/302869. Epub 2000 Mar 16.