loading...| Preferred Name |
paramyotonia congenita of Von Eulenburg |
| Synonyms |
paramyotonia congenita without cold paralysis Von Eulenburg paramyotonia congenita myotonia congenita intermittens paramyotonia congenita paramyotonia congenita of Von Eulenburg Eulenburg disease paralysis periodica Paramyotonica paramyotonia congenita of VON Eulenburg PMC |
| Definitions |
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008195 |
| database_cross_reference |
SCTID:41574007 NCIT:C122790 OMIM:168300 ICD9:359.29 Orphanet:684 GARD:0007325 DOID:0111538 |
| definition |
Paramyotonia congenita of Von Eulenburg is characterised by exercise- or cold-induced myotonia and muscle weakness. Prevalence is unknown. The syndrome is nonprogressive and is transmitted as an autosomal dominant trait. It is caused by mutations in the gene encoding the alpha subunit of the type IV voltage-gated sodium channel (SCN4A; 17q23.3). |
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_684 http://identifiers.org/snomedct/41574007 |
| has_exact_synonym |
paramyotonia congenita paramyotonia congenita of Von Eulenburg |
| has_related_synonym |
paramyotonia congenita without cold paralysis Von Eulenburg paramyotonia congenita myotonia congenita intermittens Eulenburg disease paralysis periodica Paramyotonica paramyotonia congenita of VON Eulenburg PMC |
| id |
MONDO:0008195 |
| in_subset | |
| label |
paramyotonia congenita of Von Eulenburg |
| notation |
MONDO:0008195 |
| prefLabel |
paramyotonia congenita of Von Eulenburg |
| treeView | |
| subClassOf |