Details of Disease

General Information of Disease (ID: DISR9UYD)

Disease Name Neutral lipid storage myopathy
Synonyms
neutral lipid storage disease without ichthyosis; neutral lipid storage disease with myopathy; triglyceride deposit cardiomyovasculopathy; neutral lipid storage disease with myopathy without ichthyosis; NLSDM
Disease Hierarchy
DISY442E: Neutral lipid storage disease
DISR9UYD: Neutral lipid storage myopathy
Disease Identifiers
MONDO ID
MONDO_0012545
MESH ID
C565192
UMLS CUI
C1853136
OMIM ID
610717
MedGen ID
339913
Orphanet ID
98908
SNOMED CT ID
699315005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC22A5 DT3HUVD Limited Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ETFB OT6Q6FBD Limited Biomarker [1]
ETFDH OTOSKSFH Limited Biomarker [1]
ABHD5 OTY829Z3 Strong Genetic Variation [2]
PNPLA2 OTR3ERMR Definitive Autosomal recessive [3]
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References

1 Clinical and genetic analysis of lipid storage myopathies.Muscle Nerve. 2009 Mar;39(3):333-42. doi: 10.1002/mus.21167.
2 Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function. Cells. 2019 Feb 21;8(2):187. doi: 10.3390/cells8020187.
3 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.