Details of Disease

General Information of Disease (ID: DISHEAMG)

Disease Name Nemaline myopathy 10
Synonyms nemaline myopathy 10; LMOD3 nemaline myopathy; nemaline myopathy type 10; nemaline myopathy caused by mutation in LMOD3; NEM10
Definition Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene.
Disease Hierarchy
DISY1645: Typical nemaline myopathy
DIS5IYLY: Nemaline myopathy
DISJR7WP: Severe congenital nemaline myopathy
DISHEAMG: Nemaline myopathy 10
Disease Identifiers
MONDO ID
MONDO_0014513
UMLS CUI
C4015360
OMIM ID
616165
MedGen ID
863797

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
LMOD3 OTSJ3QGX Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.