Details of Disease

General Information of Disease (ID: DISF2XWP)

• Disease Name: Autosomal dominant centronuclear myopathy
• Synonyms: CNM3; DNM2-related centronuclear myopathy; myopathy, centronuclear, autosomal dominant; myopathy, centronuclear, type 1; myopathy, centronuclear, 1; centronuclear myopathy, autosomal dominant; autosomal dominant centronuclear myopathy caused by mutation in MYF6; myopathy, centronuclear, type 3; myopathy, centronuclear, 3; centronuclear myopathy 1; CNM1; myotubular myopathy, autosomal dominant; AD-CNM; autosomal dominant centronuclear myopathy; centronuclear myopathy, autosomal, modifier of
• Definition: An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
• Disease Hierarchy:
  DISZ9JP4: Congenital structural myopathy
  DIS3HIWD: Autosomal dominant disease
  DISXBEJO: Centronuclear myopathy
  DISF2XWP: Autosomal dominant centronuclear myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0008048
  MESH ID: D020914
  UMLS CUI: C4551952
  OMIM ID: 160150
  MedGen ID: 1645741
  Orphanet ID: 169189

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNM2	TTVRA5G	Limited	Genetic Variation	[1]
MTM1	TTY2TCU	Strong	Biomarker	[2]
RYR1	TTU5CIX	Strong	Biomarker	[2]
DNM2	TTVRA5G	Definitive	Autosomal dominant	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTMR14	OTUUEY6Q	Limited	Digenic inheritance HP:0010984	[4]
BIN1	OTK8O0X8	Supportive	Autosomal dominant	[5]
DNM2	OTUYU2U3	Definitive	Autosomal dominant	[3]

References

• [1] DNM2 mutations in Chinese Han patients with centronuclear myopathy.Neurol Sci. 2016 Jun;37(6):995-8. doi: 10.1007/s10072-016-2513-1. Epub 2016 Feb 23.
• [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] 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.
• [4] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [5] Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25.