Details of Disease | DrugMAP

General Information of Disease (ID: DISQ2NAW)

Disease Name	Myotonia congenita, autosomal recessive
Synonyms	Becker disease; myotonia, generalized; myotonia, generalised; myotonia congenita, autosomal recessive; myotonia congenita, recessive; autosomal recessive myotonia congenita
Definition	Autosomal recessive form of myotonia congenita.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISLG2RO: Hereditary neuromuscular disease DISXXIMR: Thomsen and Becker disease DISQ2NAW: Myotonia congenita, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009715 MESH ID D009224 UMLS CUI C0751360 OMIM ID 255700 MedGen ID 155852 SNOMED CT ID 20305008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	TTUYAF3	Limited	Genetic Variation	[1]
CLCN1	TTUYAF3	Strong	Autosomal recessive	[2]
SCN4A	TT84DRB	Strong	Biomarker	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCN1	OT3HPMBV	Strong	Autosomal recessive	[2]
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References

1	A case report: autosomal recessive Myotonia congenita caused by a novel splice mutation (c.1401??G?A) in CLCN1 gene of a Chinese Han patient.BMC Neurol. 2018 Sep 22;18(1):154. doi: 10.1186/s12883-018-1153-x.
2	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.
3	Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.Neuron. 1992 May;8(5):891-7. doi: 10.1016/0896-6273(92)90203-p.