Details of Disease

General Information of Disease (ID: DIS5JEO5)

Disease Name Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Synonyms
Emery-Dreifuss muscular dystrophy 4 with variable features; EMERY-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4; SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy; autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1; Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Definition Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene.
Disease Hierarchy
DISL8GMY: Autosomal dominant Emery-Dreifuss muscular dystrophy
DIS5JEO5: Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0013071
MESH ID
C567831
UMLS CUI
C2751807
OMIM ID
612998
MedGen ID
414476

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 Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.