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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/613345
http://purl.bioontology.org/ontology/OMIM/613345
|
|---|---|
| Preferred Name | HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 |
| Synonyms |
HOKPP2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HOKPP2
|
|---|---|
| prefLabel |
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2
|
| Gene Symbol |
SCN4A
HOKPP2
NAC1A
CMYO22A
CMS16
HYPP
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|
| notation |
613345
|
| Scope Statement |
Allelic disorder to hyperkalemic periodic paralysis (HYPP, 170500) [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]
One-third of cases are sporadic [MISCELLANEOUS]
Onset usually in second decade (may occur earlier) [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
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|
| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
17q23.1-q25.3
|
| tui |
T047
|
| cui |
C2750061
|
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