Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Id http://purl.bioontology.org/ontology/OMIM/160800
http://purl.bioontology.org/ontology/OMIM/160800
Preferred Name

MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
Synonyms
MYOTONIA LEVIOR
THOMSEN DISEASE
THD
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MYOTONIA LEVIOR
THOMSEN DISEASE
THD
prefLabel
MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
Gene Symbol
CLCN1
notation
160800
Scope Statement
Affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause [MISCELLANEOUS]
Onset in childhood, adolescence [MISCELLANEOUS]
Worldwide prevalence of 1/100,000 [MISCELLANEOUS]
Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, 118425.0002) [MOLECULAR BASIS]
Highly variable phenotype and severity [MISCELLANEOUS]
Warm weather and alcohol are alleviating factors [MISCELLANEOUS]
Increased prevalence in Northern Finland (7.3/100,000) [MISCELLANEOUS]
See also autosomal recessive form (255700), which is more common and more severe [MISCELLANEOUS]
Cold temperatures exacerbate symptoms [MISCELLANEOUS]
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OMIM MimType Value
pound
Has inheritance type
Semantic type UMLS property
OMIM Entry Type
3
type
Has manifestation
MIMTYPEMEANING
Phenotype description, molecular basis known.
Gene Locus
7q35
tui
T047
cui
C0270959
C2936781
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