loading...| Preferred Name |
HYPERKALEMIC PERIODIC PARALYSIS |
| Synonyms |
NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE |
| ID |
http://purl.bioontology.org/ontology/OMIM/170500 |
| altLabel |
NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE GAMSTORP DISEASE HYPP ADYNAMIA EPISODICA HEREDITARIA WITH OR WITHOUT MYOTONIA |
| cui |
C1868433 C0238357 |
| Gene Locus |
17q23.1-q25.3 |
| Gene Symbol |
CMS16 SCN4A HOKPP2 HYPP NAC1A |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016263 http://purl.bioontology.org/ontology/OMIM/MTHU016261 http://purl.bioontology.org/ontology/OMIM/MTHU016265 http://purl.bioontology.org/ontology/OMIM/MTHU016260 http://purl.bioontology.org/ontology/OMIM/MTHU016258 http://purl.bioontology.org/ontology/OMIM/MTHU016264 http://purl.bioontology.org/ontology/OMIM/MTHU016262 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
170500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
HYPERKALEMIC PERIODIC PARALYSIS |
| Scope Statement |
Caused by mutations in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0001) [MOLECULAR BASIS] Acetazolamide is often effective [MISCELLANEOUS] Allelic disorder to paramyotonia congenita (168300) [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] Allelic disorder to potassium-aggravated myotonia (608390) [MISCELLANEOUS] Variable phenotype (myotonia may or may not be present) [MISCELLANEOUS] Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400) [MISCELLANEOUS] |
| tui |
T047 |