Details of Disease

General Information of Disease (ID: DIS7NCZX)

Disease Name Myopathy, centronuclear, 2
Synonyms
CNM2; myotubular myopathy, autosomal recessive; myopathy, centronuclear, autosomal recessive; myopathy, centronuclear, type 2; centronuclear myopathy caused by mutation in BIN1; centronuclear myopathy 2; BIN1 centronuclear myopathy; myopathy, centronuclear, 2
Definition Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene.
Disease Hierarchy
DIS4ZI6X: Autosomal recessive centronuclear myopathy
DISXBEJO: Centronuclear myopathy
DIS7NCZX: Myopathy, centronuclear, 2
Disease Identifiers
MONDO ID
MONDO_0009709
MESH ID
C562934
UMLS CUI
C0410204
OMIM ID
255200
MedGen ID
98049
SNOMED CT ID
240081004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RYR1 TTU5CIX Definitive GermlineCausalMutation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMPH OTWPGWZX Limited Genetic Variation [2]
SPEG OTQXWJR4 Strong GermlineCausalMutation [3]
BIN1 OTK8O0X8 Definitive Autosomal recessive [4]
TTN OT0LZ058 Definitive GermlineCausalMutation [5]
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References

1 RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov;68(5):717-26. doi: 10.1002/ana.22119.
2 Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.Orphanet J Rare Dis. 2010 Dec 3;5:35. doi: 10.1186/1750-1172-5-35.
3 SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31.
4 Phenotype of a patient with recessive centronuclear myopathy and a novel BIN1 mutation. Neurology. 2010 Feb 9;74(6):519-21. doi: 10.1212/WNL.0b013e3181cef7f9.
5 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.