Myotonia congenita, autosomal dominant

Preferred Label : Myotonia congenita, autosomal dominant;

CISMeF acronym : THD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thomsen disease; THD;

Included titles and symbols : Myotonia levior;

Description : Autosomal dominant myotonia congenita is a nondystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction (Sun et al., 2001). Thomsen disease is less common and less severe than Becker disease. See also paramyotonia congenita (PMC; 168300) and potassium-aggravated myotonia (608390), overlapping phenotypes caused by mutations in the SCN4A gene (603967).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, 118425.0002);

Prefixed ID : #160800;

Détails

Origin ID

160800;

UMLS CUI

C2936781;

Automatic exact mappings (from CISMeF team)
- Doctor of Theology [NCIt concept]
- Myotonia Levior [MeSH concept]
- Myotonia levior (disorder) [SNOMED CT concept]
- chloride voltage-gated channel 1 [HGNC gene]
- myotonia levior [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital myotonia [ORDO Disease]
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- MYOTONIA CONGENITA [WHO-ART Preferred Term]
- Myotonia Congenita [NCIt concept]
- Myotonia congenita [MedDRA Preferred Term]
- Myotonia congenita, dominant [ICD-11 More detail]
- Thomsen and Becker disease [ORDO Disease]
- congenital myopathy [DO Concept]
- congenital myotonia, autosomal dominant form [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- myotonia congenita [Disease (Nov.)]
- myotonia congenita [DO Concept]
- myotonia congenita [MeSH concept]
- myotonia congenita [MeSH Descriptor]
DO Cross reference
- myotonia congenita [DO Concept]
False automatic mappings
- Thomsen's disease [MedDRA LLT]
- generalized myotonia of thomsen [MeSH concept]
Genes related to phenotype
- Chloride channel 1, skeletal muscle [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Delayed relaxation of muscle fibers after contraction [HPO term]
- EMG: myotonic runs [HPO term]
- Handgrip myotonia [HPO term]
- Lid lag on downgaze [HPO term]
- Muscle stiffness [HPO term]
- Myalgia [HPO term]
- Myotonia [HPO term]
- Myotonia is most pronounced in the extremities [HPO term]
- Myotonia with warm-up phenomenon [HPO term]
- Percussion myotonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
Not associated HPO term(s)
- Muscle weakness [HPO term]
ORDO concept(s)
- Thomsen and Becker disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myotonia, autosomal dominant form (disorder) [SNOMED CT concept]
- Myotonia congenita (disorder) [SNOMED CT concept]
- Thomsen's disease [MedDRA LLT]
- congenital myotonia, autosomal dominant form [SNOMED Notion]
- congenital myotonia, nos [SNOMED Notion]
- generalized myotonia of thomsen [MeSH concept]
Validated automatic mappings to NTBT
- Congenital myopathies [ICD-11 Category]
- Myotonia congenita [ICD-11 Subcategory]
- Myotonia congenita (disorder) [SNOMED CT concept]

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