Details of Disease

Disease Name

Myotonia congenita, autosomal dominant

myotonia Levior; Thomsen and Becker disease; congenital myotonia, autosomal dominant form; myotonia congenita, dominant; Thomsen's disease; myotonia congenita, autosomal dominant; Thomsen disease

Disease Hierarchy

DISLG2RO: Hereditary neuromuscular disease

DISXXIMR: Thomsen and Becker disease

DISAC9U9: Myotonia congenita, autosomal dominant

Disease Identifiers

MONDO ID

MONDO_0008055

MESH ID

D009224

UMLS CUI

C2936781

OMIM ID

160800

MedGen ID

422446

SNOMED CT ID

57938005

General Information of Disease (ID: DISAC9U9)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Fluoxymesterone	DMUHCF1	Approved	Small molecular drug	[1]
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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
TRB	TT84HCW	Limited	Genetic Variation	[2]
TRBC1	TT1DHW2	Limited	Genetic Variation	[2]
CLCN1	TTUYAF3	Strong	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
CLC	OTYMYR85	Limited	Genetic Variation	[4]
CLCN1	OT3HPMBV	Strong	Autosomal dominant	[3]
CIC	OTFXCHNZ	Definitive	Genetic Variation	[5]
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References

1	Fluoxymesterone FDA Label
2	Linkage of Thomsen disease to the T-cell-receptor beta (TCRB) locus on chromosome 7q35.Am J Hum Genet. 1992 Sep;51(3):579-84.
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	From tonus to tonicity: physiology of CLC chloride channels.J Am Soc Nephrol. 2000 Jul;11(7):1331-1339. doi: 10.1681/ASN.V1171331.
5	Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.Acta Neurol Scand. 2006 May;113(5):342-6. doi: 10.1111/j.1600-0404.2006.00589.x.