Details of Disease

General Information of Disease (ID: DISRO6ZH)

• Disease Name: Potassium-aggravated myotonia
• Synonyms: Myotonia Permanens; Sodium Channel Muscle Disease; MYOTONIA, POTASSIUM-AGGRAVATED; Laryngospasm, Severe Neonatal Episodic; Myotonia Congenita, Acetazolamide-Responsive; Myotonia Fluctuans; Myotonia Congenita, Atypical; K-aggravated myotonia; myotonia congenita, atypical, acetazolamide-responsive; K+-aggravated myotonia; Potassium aggravated myotonia; PAM
• Definition: Potassium-aggravated myotonia (PAM) is a muscular channelopathy presenting with a pure myotonia dramatically aggravated by potassium ingestion, with variable cold sensitivity and no episodic weakness. This group includes three forms: myotonia fluctuans, myotonia permanens, and acetazolamide-responsive myotonia.
• Disease Hierarchy:
  DISPCJM5: Myotonic syndrome
  DISU0K94: Hereditary skeletal muscle disorder
  DISCJ8DX: SCN4A-related channelopathy
  DISRO6ZH: Potassium-aggravated myotonia
• Disease Identifiers:
  MONDO ID: MONDO_0018959
  MESH ID: C538353
  UMLS CUI: C2931826
  OMIM ID: 608390
  MedGen ID: 444151
  Orphanet ID: 612
  SNOMED CT ID: 702355008

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
SCN4A	TT84DRB	Limited	Genetic Variation	[1]
CLCN1	TTUYAF3	Strong	Genetic Variation	[2]
CYP51A1	TT67TDP	Strong	Biomarker	[3]
SLC34A2	TTQPZTM	Strong	Genetic Variation	[4]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN4A	DT7SZIQ	Strong	Autosomal dominant	[5]
SLC35A1	DTVZIRG	Strong	Biomarker	[6]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCR10	OT7ZWSSD	Strong	Genetic Variation	[7]
CRTAM	OTXNF0NQ	Strong	Altered Expression	[8]
GAL3ST1	OTSFFZRD	Strong	Biomarker	[6]
PDP1	OT82RTMT	Strong	Biomarker	[9]
SCN4A	OT0MYDHC	Strong	Autosomal dominant	[5]

References

• [1] De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.Neuromuscul Disord. 2019 Nov;29(11):907-909. doi: 10.1016/j.nmd.2019.09.001. Epub 2019 Sep 13.
• [2] Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.
• [3] CYP51 is an essential drug target for the treatment of primary amoebic meningoencephalitis (PAM).PLoS Negl Trop Dis. 2017 Dec 28;11(12):e0006104. doi: 10.1371/journal.pntd.0006104. eCollection 2017 Dec.
• [4] Eight novel variants in the SLC34A2 gene in pulmonary alveolar microlithiasis.Eur Respir J. 2020 Feb 27;55(2):1900806. doi: 10.1183/13993003.00806-2019. Print 2020 Feb.
• [5] A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies. J Neuromuscul Dis. 2019;6(4):467-473. doi: 10.3233/JND-190425.
• [6] Nanoprecipitated catestatin released from pharmacologically active microcarriers (PAMs) exerts pro-survival effects on MSC.Int J Pharm. 2017 May 25;523(2):506-514. doi: 10.1016/j.ijpharm.2016.11.050. Epub 2016 Nov 22.
• [7] Chemokine Receptor Expression Pattern Correlates to Progression of Conjunctival Melanocytic Lesions.Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):2950-2957. doi: 10.1167/iovs.19-27162.
• [8] Transcriptome of porcine alveolar macrophages activated by interferon-gamma and lipopolysaccharide.Biochem Biophys Res Commun. 2018 Sep 18;503(4):2666-2672. doi: 10.1016/j.bbrc.2018.08.021. Epub 2018 Aug 4.
• [9] Elaboration on the Distribution of Hydrophobic Segments in the Chains of Amphiphilic Cationic Polymers for Small Interfering RNA Delivery.ACS Appl Mater Interfaces. 2017 Sep 27;9(38):32463-32474. doi: 10.1021/acsami.7b07337. Epub 2017 Sep 13.