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Hyperkalemic periodic paralysis (CUI C0238357) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0238357

NCI Thesaurus Code: C123429  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare, autosomal dominant inherited disorder caused by mutations in the SCN4A gene. It is characterized by occasional episodes of muscle weakness or paralysis which are usually accompanied by increased levels of potassium in the blood. In some cases, the episodes of paralysis are associated with normal blood potassium levels. Ingestion of potassium can trigger attacks in affected individuals.

GARD Definition: Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion. - this information is from GARD/ORDR/NCATS.

HPO Definition: Episodes of muscle weakness associated with elevated levels of potassium in the blood. [HPO:probinson]

MSH Definition: An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)

Synonyms & Abbreviations: (see Synonym Details)
Adynamia episodica hereditaria with or without myotonia
ADYNAMIA EPISODICA HEREDITARIA
Disease, Gamstorp
Familial hyperkalaemic periodic paralysis
Familial hyperkalemic periodic paralysis (disorder)
Familial hyperkalemic periodic paralysis
Familial hyperPP
GAMSTORP DISEASE
Gamstorp episodic adynamy
Hyperkalaemic periodic paralysis
Hyperkalemic periodic paralysis (familial)
Hyperkalemic Periodic Paralysis, Familial
Hyperkalemic periodic paralysis
Hyperkalemic PP
HyperKPP
HyperPP
HYPP
Myotonic Periodic Paralysis
Paralysis, Hyperkalemic Periodic [Disease/Finding]
Paralysis, Hyperkalemic Periodic
Paralysis, Periodic, Hyperkalemic, Familial
Periodic hyperkalemic paralysis
Periodic paralysis II
PERIODIC PARALYSIS, HYPERKALEMIC
Primary hyperkalemic periodic paralysis
Primary hyperPP
Sodium channel muscle disease

External Source Codes: 
NCI Thesaurus Code C123429 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AQL BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID XU4hq SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 33592 GARD
DISEASE_IDENTIFIER_ID 33593 GARD
DISEASE_IDENTIFIER_ID 33594 GARD
DISEASE_IDENTIFIER_ID 33595 GARD
DISEASE_IDENTIFIER_ID 33596 GARD
DISEASE_IDENTIFIER_ID 33597 GARD
DISEASE_IDENTIFIER_ID 33598 GARD
DISEASE_IDENTIFIER_ID 33599 GARD
DISEASE_IDENTIFIER_ID 913 GARD
DISEASE_IDENTIFIER_ID 914 GARD
DISEASE_IDENTIFIER_ID 915 GARD
DISEASE_IDENTIFIER_ID 916 GARD
DISEASE_IDENTIFIER_ID 917 GARD
DX 20000101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D006947 MSH
FX D062553 MSH
GENELOCUS ,1,7,q,2,3,.,1,-,q,2,5,.,3, OMIM
GENESYMBOL CMS16 OMIM
GENESYMBOL HOKPP2 OMIM
GENESYMBOL HYPP OMIM
GENESYMBOL NAC1A OMIM
GENESYMBOL SCN4A OMIM
HAS_GARD_PAGE true GARD
HN 2000 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2008-04-16T00:00:00 GARD
MDA 19991103 MSH
MESH_DEFINITION An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481) NDFRT
MESH_DUI D020513 NDFRT
MESH_NAME Paralysis, Hyperkalemic Periodic NDFRT
MESH_UI M0328224 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C05.651.701.600 MSH
MN C10.668.491.650.600 MSH
MN C16.320.565.618.711.600 MSH
MN C18.452.648.618.711.600 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000004155 NDFRT
PM 2000 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/195/hyperkalemic-periodic-paralysis/resources/1 GARD
RXAUI 3107024 RXNORM
RXAUI 3159731 RXNORM
RXAUI 3174304 RXNORM
RXAUI 3174305 RXNORM
RXAUI 3201112 RXNORM
RXAUI 3217932 RXNORM
RXAUI 3217933 RXNORM
RXAUI 3217949 RXNORM
RXAUI 3223611 RXNORM
RXAUI 5038616 RXNORM
RXAUI 5039395 RXNORM
RXAUI 5039396 RXNORM
RXAUI 5039964 RXNORM
RXAUI 5931157 RXNORM
RXAUI 5931158 RXNORM
RXCUI 1022357 RXNORM
SMQ_TERM_ADDVERSION 18.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 18.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 278513006 NDFRT
SNOMED_CID 304737009 NDFRT
SNOMEDID DA-5181A SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G72.3 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G72.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G72.3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G72.3 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU4hq SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~DA-5181A SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T358224 MSH
TERMUI T372444 MSH
TERMUI T372445 MSH
TERMUI T372446 MSH
TERMUI T372447 MSH
TERMUI T372448 MSH
TERMUI T372449 MSH
TERMUI T372450 MSH
TERMUI T817409 MSH
TERMUI T817410 MSH
TERMUI T817411 MSH
TERMUI T817412 MSH
TERMUI T843490 MSH
TERMUI T843491 MSH
TH GHR (2014) MSH
TH NLM (2000) MSH
TH NLM (2013) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0238357

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