Details of Disease

General Information of Disease (ID: DISPCJM5)

Disease Name Myotonic syndrome
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISR9DGU: Skeletal muscle disorder
DISPCJM5: Myotonic syndrome
Disease Identifiers
MONDO ID
MONDO_0016120
MESH ID
D020967
UMLS CUI
C0553604
MedGen ID
107510
Orphanet ID
206970
SNOMED CT ID
193237003

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
SCN4A TT84DRB moderate Genetic Variation [1]
HSPG2 TT5UM29 Strong Biomarker [2]
CLCN1 TTUYAF3 Definitive Genetic Variation [3]
DMPK TTZQTY2 Definitive Genetic Variation [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MBNL1 OTOV7J85 Strong Biomarker [5]
CCT3 OTL6EOS1 Definitive Biomarker [5]
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References

1 Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.Muscle Nerve. 2008 Jan;37(1):23-6. doi: 10.1002/mus.20885.
2 A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.Am J Pathol. 2012 May;180(5):2040-55. doi: 10.1016/j.ajpath.2012.01.035. Epub 2012 Mar 23.
3 Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia.Hum Mol Genet. 1994 Jun;3(6):941-6. doi: 10.1093/hmg/3.6.941.
4 PROMM: the expanding phenotype. A family with proximal myopathy, myotonia and deafness.Neuromuscul Disord. 1998 Oct;8(7):439-46. doi: 10.1016/s0960-8966(98)00054-6.
5 Muscleblind-like protein 1 nuclear sequestration is a molecular pathology marker of DM1 and DM2.Eur J Histochem. 2006 Jul-Sep;50(3):177-82.