loading...| Preferred Name |
MYOTONIA, POTASSIUM-AGGRAVATED |
| Synonyms |
MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE |
| ID |
http://purl.bioontology.org/ontology/OMIM/608390 |
| altLabel |
MYOTONIA CONGENITA, ACETAZOLAMIDE-RESPONSIVE SODIUM CHANNEL MUSCLE DISEASE MYOTONIA CONGENITA, ATYPICAL SNEL MYOTONIA PERMANENS LARYNGOSPASM, SEVERE NEONATAL EPISODIC MYOTONIA FLUCTUANS |
| cui |
C3149517 C0752355 C2931826 |
| 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/MTHU002238 http://purl.bioontology.org/ontology/OMIM/MTHU002243 http://purl.bioontology.org/ontology/OMIM/MTHU020224 http://purl.bioontology.org/ontology/OMIM/MTHU005259 http://purl.bioontology.org/ontology/OMIM/MTHU038878 http://purl.bioontology.org/ontology/OMIM/MTHU010824 http://purl.bioontology.org/ontology/OMIM/MTHU020225 http://purl.bioontology.org/ontology/OMIM/MTHU020223 |
| 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 hyperkalemic periodic paralysis (HYPP, 608390) [MISCELLANEOUS] Allelic disorder to paramyotonia congenita (168300) [MISCELLANEOUS] Caused by mutation in the type IV, voltage-gated sodium channel, alpha-subunit gene (SCN4A, 603967.0009) [MOLECULAR BASIS] Highly variable phenotype including fluctuating phenotype ('fluctuans') or severe phenotype ('permanens') [MISCELLANEOUS] Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400) [MISCELLANEOUS] |
| tui |
T047 |