Details of Disease

General Information of Disease (ID: DIS57485)

Disease Name Myofibrillar myopathy 8
Synonyms MFM8; myofibrillar myopathy (disease) caused by mutation in PYROXD1; myofibrillar myopathy 8; myopathy, myofibrillar, type 8; PYROXD1 myofibrillar myopathy (disease); myopathy, myofibrillar, 8
Definition Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.
Disease Hierarchy
DISF24LW: Myofibrillar myopathy
DIS57485: Myofibrillar myopathy 8
Disease Identifiers
MONDO ID
MONDO_0014993
UMLS CUI
C4310645
OMIM ID
617258
MedGen ID
934612

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
PYROXD1 OTPGO23E 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.