loading...| Preferred Name |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 |
| Synonyms |
HOKPP2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/613345 |
| altLabel |
HOKPP2 |
| cui |
C2750061 |
| Gene Locus |
17q23.1-q25.3 |
| Gene Symbol |
CMS16 SCN4A HOKPP2 HYPP NAC1A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016270 http://purl.bioontology.org/ontology/OMIM/MTHU016275 http://purl.bioontology.org/ontology/OMIM/MTHU016279 http://purl.bioontology.org/ontology/OMIM/MTHU016273 http://purl.bioontology.org/ontology/OMIM/MTHU016277 http://purl.bioontology.org/ontology/OMIM/MTHU016280 http://purl.bioontology.org/ontology/OMIM/MTHU016278 http://purl.bioontology.org/ontology/OMIM/MTHU016276 http://purl.bioontology.org/ontology/OMIM/MTHU016271 http://purl.bioontology.org/ontology/OMIM/MTHU016274 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
613345 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 |
| Scope Statement |
Variable phenotype [MISCELLANEOUS] One-third of cases are sporadic [MISCELLANEOUS] Onset usually in second decade (may occur earlier) [MISCELLANEOUS] Caused by mutation in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0015). [MOLECULAR BASIS] Reduced penetrance in females [MISCELLANEOUS] Allelic disorder to hyperkalemic periodic paralysis (HYPP, 170500) [MISCELLANEOUS] |
| tui |
T047 |