Details of Disease | DrugMAP

General Information of Disease (ID: DIS4ZI6X)

Disease Name	Autosomal recessive centronuclear myopathy
Synonyms	centronuclear myopathy, autosomal recessive; AR-CNM
Definition	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Disease Hierarchy	DISN5GSL: Autosomal recessive titinopathy DISXBEJO: Centronuclear myopathy DIS4ZI6X: Autosomal recessive centronuclear myopathy
Disease Identifiers	MONDO ID MONDO_0015705 MESH ID D020914 UMLS CUI C3645536 MedGen ID 771131 Orphanet ID 169186

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RYR1	TTU5CIX	Supportive	Autosomal recessive	[1]
DNM2	TTVRA5G	Strong	Biomarker	[2]
MTM1	TTY2TCU	Strong	Biomarker	[2]
RYR1	TTU5CIX	Strong	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMPH	OTWPGWZX	Limited	Genetic Variation	[3]
BIN1	OTK8O0X8	Supportive	Autosomal recessive	[4]
RYR1	OTWUB65S	Supportive	Autosomal recessive	[1]
SPEG	OTQXWJR4	Supportive	Autosomal recessive	[5]
TTN	OT0LZ058	Supportive	Autosomal recessive	[6]
------------------------------------------------------------------------------------

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	Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.Neuromuscul Disord. 2007 Apr;17(4):338-45. doi: 10.1016/j.nmd.2007.01.016. Epub 2007 Mar 21.
3	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.
4	Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet. 2007 Sep;39(9):1134-9. doi: 10.1038/ng2086. Epub 2007 Aug 5.
5	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.
6	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.