Details of Disease

General Information of Disease (ID: DISGCBNH)

Disease Name Myotonia fluctuans
Synonyms exercise-induced delayed-onset myotonia; MF; Fluctuating myotonia
Definition Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.
Disease Hierarchy
DISRO6ZH: Potassium-aggravated myotonia
DISGCBNH: Myotonia fluctuans
Disease Identifiers
MONDO ID
MONDO_0020481
MESH ID
D020967
UMLS CUI
C0752355
MedGen ID
156269
Orphanet ID
99734
SNOMED CT ID
715788001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SCN4A TT84DRB Strong GermlineCausalMutation [1]
TCIRG1 TTVRN05 Strong Altered Expression [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SCN4A DT7SZIQ Supportive Autosomal dominant [1]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SCN4A OT0MYDHC Supportive Autosomal dominant [1]
INTS1 OT7TY1M1 Strong Genetic Variation [3]
QTRT1 OTC33MCV Strong Biomarker [4]
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References

1 Myotonia fluctuans. A third type of muscle sodium channel disease. Arch Neurol. 1994 Nov;51(11):1095-102. doi: 10.1001/archneur.1994.00540230033009.
2 Genetic Analysis of Giant Cell Lesions of the Maxillofacial and Axial/Appendicular Skeletons.J Oral Maxillofac Surg. 2017 Feb;75(2):298-308. doi: 10.1016/j.joms.2016.07.014. Epub 2016 Jul 26.
3 Genetically inspired prognostic scoring system (GIPSS) outperforms dynamic international prognostic scoring system (DIPSS) in myelofibrosis patients.Am J Hematol. 2019 Jan;94(1):87-92. doi: 10.1002/ajh.25335. Epub 2018 Nov 25.
4 K-Ras mutant fraction in A/J mouse lung increases as a function of benzo[a]pyrene dose.Environ Mol Mutagen. 2010 Mar;51(2):146-55. doi: 10.1002/em.20513.