Details of Disease

General Information of Disease (ID: DISZ45E1)

Disease Name Nemaline myopathy 6
Synonyms NEM6; nemaline myopathy caused by mutation in KBTBD13; KBTBD13 nemaline myopathy; nemaline myopathy 6; nemaline myopathy 6, autosomal dominant; nemaline myopathy type 6
Definition Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene.
Disease Hierarchy
DIS5IYLY: Nemaline myopathy
DIST7MSL: Childhood-onset nemaline myopathy
DISZ45E1: Nemaline myopathy 6
Disease Identifiers
MONDO ID
MONDO_0012237
MESH ID
C538398
UMLS CUI
C1836472
OMIM ID
609273
MedGen ID
373095

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
KBTBD13 OTN5QRKV Definitive Autosomal dominant [1]
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References

1 Nemaline myopathy type 6: clinical and myopathological features. Muscle Nerve. 2010 Dec;42(6):901-7. doi: 10.1002/mus.21788.