loading...| Preferred Name |
PARAMYOTONIA CONGENITA OF VON EULENBURG |
| Synonyms |
PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS |
| ID |
http://purl.bioontology.org/ontology/OMIM/168300 |
| altLabel |
PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS PARALYSIS PERIODICA PARAMYOTONICA PMC |
| cui |
C0221055 C1868619 |
| Gene Locus |
17q23.1-q25.3 |
| Gene Symbol |
CMS16 SCN4A HOKPP2 HYPP NAC1A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004173 http://purl.bioontology.org/ontology/OMIM/MTHU031309 http://purl.bioontology.org/ontology/OMIM/MTHU016384 http://purl.bioontology.org/ontology/OMIM/MTHU067332 http://purl.bioontology.org/ontology/OMIM/MTHU005259 http://purl.bioontology.org/ontology/OMIM/MTHU016378 http://purl.bioontology.org/ontology/OMIM/MTHU010824 http://purl.bioontology.org/ontology/OMIM/MTHU016383 http://purl.bioontology.org/ontology/OMIM/MTHU016381 http://purl.bioontology.org/ontology/OMIM/MTHU041421 http://purl.bioontology.org/ontology/OMIM/MTHU031310 http://purl.bioontology.org/ontology/OMIM/MTHU031312 http://purl.bioontology.org/ontology/OMIM/MTHU016379 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
168350 |
| notation |
168300 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
PARAMYOTONIA CONGENITA OF VON EULENBURG |
| Scope Statement |
Caused by mutation in the alpha-subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0003) [MOLECULAR BASIS] Patients may have a combination phenotype of PMC and HYPP (see 603967.0005) [MISCELLANEOUS] Affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Allelic disorder to potassium-aggravated myotonia (608390) [MISCELLANEOUS] Alcohol may alleviate symptoms [MISCELLANEOUS] Some patients may present with transient neonatal hypotonia, and then later develop classic PMC in childhood [MISCELLANEOUS] Allelic disorder to hyperkalemic periodic paralysis (HYPP, 170500) [MISCELLANEOUS] Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400) [MISCELLANEOUS] |
| tui |
T047 |