Details of Disease | DrugMAP

General Information of Disease (ID: DISXYDU9)

Disease Name	Paramyotonia congenita of Von Eulenburg
Synonyms	Von Eulenburg paramyotonia congenita; paramyotonia congenita of VON Eulenburg; Eulenburg disease; PMC; paramyotonia congenita without cold paralysis; myotonia congenita intermittens; paralysis periodica Paramyotonica; paramyotonia congenita; paramyotonia congenita of Von Eulenburg
Definition	Paramyotonia congenita of Von Eulenburg is characterized by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3).
Disease Hierarchy	DISPCJM5: Myotonic syndrome DISU0K94: Hereditary skeletal muscle disorder DISCJ8DX: SCN4A-related channelopathy DISXYDU9: Paramyotonia congenita of Von Eulenburg
Disease Identifiers	MONDO ID MONDO_0008195 MESH ID D020967 UMLS CUI C0221055 OMIM ID 168300 MedGen ID 113142 Orphanet ID 684 SNOMED CT ID 41574007

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
CLCN1	TTUYAF3	Strong	Genetic Variation	[1]
IDS	TTNY2AP	Definitive	Genetic Variation	[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	Definitive	Autosomal dominant	[3]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRKL	OTOYSD1R	Limited	Biomarker	[4]
KCNE3	OTKWKR91	Limited	Biomarker	[5]
SCN4A	OT0MYDHC	Definitive	Autosomal dominant	[3]
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References

1	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.
2	Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.J Clin Invest. 2010 Jan;120(1):369-78. doi: 10.1172/JCI40801. Epub 2009 Dec 28.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
4	The clinical implications of Crk-like adaptor protein expression in papillary thyroid microcarcinoma.Tumour Biol. 2014 Dec;35(12):12435-40. doi: 10.1007/s13277-014-2561-1. Epub 2014 Sep 4.
5	Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.Ann Neurol. 1993 Mar;33(3):300-7. doi: 10.1002/ana.410330312.