loading...| Preferred Name | MYOTONIA, POTASSIUM-AGGRAVATED | |
| Synonyms |
MYOTONIA CONGENITA, ATYPICAL MYOTONIA PERMANENS MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE SNEL LARYNGOSPASM, SEVERE NEONATAL EPISODIC MYOTONIA FLUCTUANS SODIUM CHANNEL MUSCLE DISEASE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/608390 |
|
| altLabel |
MYOTONIA CONGENITA, ATYPICAL MYOTONIA PERMANENS MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE SNEL LARYNGOSPASM, SEVERE NEONATAL EPISODIC MYOTONIA FLUCTUANS SODIUM CHANNEL MUSCLE DISEASE |
|
| cui |
C0752355 C3149517 C2931826 |
|
| Gene Locus |
17q23.1-q25.3 |
|
| Gene Symbol |
SCN4A HOKPP2 CMYP22A NAC1A CMS16 HYPP |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU020225 http://purl.bioontology.org/ontology/OMIM/MTHU038878 http://purl.bioontology.org/ontology/OMIM/MTHU037278 http://purl.bioontology.org/ontology/OMIM/MTHU010824 http://purl.bioontology.org/ontology/OMIM/MTHU020223 http://purl.bioontology.org/ontology/OMIM/MTHU020224 http://purl.bioontology.org/ontology/OMIM/MTHU002238 http://purl.bioontology.org/ontology/OMIM/MTHU002243 http://purl.bioontology.org/ontology/OMIM/MTHU005259 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
608390 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOTONIA, POTASSIUM-AGGRAVATED |
|
| Scope Statement |
Allelic disorder to paramyotonia congenita (168300) [MISCELLANEOUS] Highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') [MISCELLANEOUS] Allelic disorder to hyperkalemic periodic paralysis (HYPP, 608390) [MISCELLANEOUS] Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, 603967.0009) [MOLECULAR BASIS] Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400) [MISCELLANEOUS] |
|
| tui |
T047 |