Details of Disease

General Information of Disease (ID: DISCGBF4)

Disease Name Congenital myopathy 21 with early respiratory failure
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISCGBF4: Congenital myopathy 21 with early respiratory failure
Disease Identifiers
MONDO ID
MONDO_0957224
UMLS CUI
C5830424
OMIM ID
620326
MedGen ID
1841060

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
DNAJB4 OTUD01BK Strong Autosomal recessive [1]
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References

1 Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol. 2023 Jan;145(1):127-143. doi: 10.1007/s00401-022-02510-8. Epub 2022 Oct 20.