loading...| Preferred Name | MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE | |
| Synonyms |
MYOTONIA, GENERALIZED BECKER DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/255700 |
|
| altLabel |
MYOTONIA, GENERALIZED BECKER DISEASE |
|
| cui |
C0751360 |
|
| Gene Locus |
7q35 |
|
| Gene Symbol |
CLCN1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU025981 http://purl.bioontology.org/ontology/OMIM/MTHU010823 http://purl.bioontology.org/ontology/OMIM/MTHU010829 http://purl.bioontology.org/ontology/OMIM/MTHU026511 http://purl.bioontology.org/ontology/OMIM/MTHU010828 http://purl.bioontology.org/ontology/OMIM/MTHU010824 http://purl.bioontology.org/ontology/OMIM/MTHU016378 http://purl.bioontology.org/ontology/OMIM/MTHU025982 http://purl.bioontology.org/ontology/OMIM/MTHU036443 http://purl.bioontology.org/ontology/OMIM/MTHU072456 http://purl.bioontology.org/ontology/OMIM/MTHU005259 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
255700 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE |
|
| Scope Statement |
Affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause [MISCELLANEOUS] Worldwide prevalence of 1/100,000 [MISCELLANEOUS] Caused by mutation in the skeletal muscle chloride channel-1 gene (CLCN1, 118425.0001) [MOLECULAR BASIS] See also autosomal dominant form (160800), which is less common and less severe [MISCELLANEOUS] Myotonia improves with continued activity ('warm-up phenomenon') [MISCELLANEOUS] Highly variable phenotype and severity [MISCELLANEOUS] Myotonia is most pronounced in the extremities [MISCELLANEOUS] Warm weather and alcohol are alleviating factors [MISCELLANEOUS] Increased prevalence in Northern Finland (7.3/100,000) [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS] Cold temperatures exacerbate symptoms [MISCELLANEOUS] |
|
| tui |
T047 |