{"orpha":681,"name":"Hypokalemic periodic paralysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Westphall disease"],"definition":"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-681/","orphanet_url":"https://www.orpha.net/en/disease/detail/681","names":{"fr":{"name":"Paralysie périodique hypokaliémique","synonyms":["Maladie de Westphall"],"definition":"Canalopathie neurologique musculaire rare d'origine génétique, caractérisée par des accès de faiblesse musculaire s'accompagnant d'une chute du taux de potassium sanguin."},"de":{"name":"Paralyse, hypokaliämische periodische","synonyms":["Westphall-Krankheit"],"definition":"Eine genetisch bedingte muskuläre Ionenkanalerkrankung, die durch wiederkehrende episodische Anfälle von allgemeiner Muskelschwäche gekennzeichnet ist, die mit einem Abfall des Kaliumspiegels im Blut einhergehen."},"es":{"name":"Parálisis periódica hipopotasémica","synonyms":["Enfermedad de Westphall","Parálisis periódica hipocaliémica","Parálisis periódica hipocalémica"],"definition":"Es una canalopatía muscular poco frecuente de origen genético caracterizada por ataques episódicos recurrentes de debilidad muscular generalizada asociados a una disminución de los niveles de potasio en sangre."},"it":{"name":"Paralisi periodica ipokaliemica","synonyms":["Malattia di Westphall"],"definition":"La paralisi periodica ipokaliemica (ipoPP) è una canalopatia muscolare genetica rara, caratterizzata da episodi ricorrenti di debolezza muscolare generalizzata associati alla riduzione dei livelli di potassio nel sangue."},"nl":{"name":"Hypokaliëmische periodieke paralyse","synonyms":["Hypokaliëmische periodieke verlamming","Ziekte van Westphall"],"definition":"Een zeldzame, genetische kanalopathie van spier, gekarakteriseerd door recidiverende episodische aanvallen van gegeneraliseerde spierzwakte geassocieerd met een daling van kaliumgehaltes in bloed."},"pt":{"name":"Paralisia periódica hipocaliémica","synonyms":["Doença de Westphall"],"definition":"A paralisia periódica hipocalémica (hipoPP) é caracterizada por episódios de paralisia muscular durando desde poucas a 24-48 horas e associada a uma queda dos valores de potássio no sangue."},"pl":{"name":"Okresowe porażenie hipokaliemiczne","synonyms":["Choroba Westphalla"]},"cs":{"name":"Hypokalemická periodická paralýza","synonyms":["Westphalova nemoc"]},"uk":{"name":"Гіпокаліємічний періодичний параліч","synonyms":["Хвороба Вестфаля"],"definition":"A rare genetic, muscle channelopathy characterized by recurrent episodic attacks of generalized muscle weakness associated with a decrease in blood potassium levels."},"zh":{"name":"低钾性周期性麻痹","synonyms":["Westphall病"]},"tr":{"name":"Hipokalemik periyodik paralizi","synonyms":["Westphall hastalığı"]}},"xrefs":[{"source":"OMIM","code":"170400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"613345","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C74.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1494773635"},{"source":"MONDO","code":"0008223","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238358","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6729","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371433,"name":"Genetic periodic paralysis","classifications":[156]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]},{"orpha":98740,"name":"Neurological muscular channelopathy due to a genetic calcium channel defect","classifications":[156,181]},{"orpha":98741,"name":"Neurological muscular channelopathy due to a genetic potassium channel defect","classifications":[156,181]},{"orpha":98738,"name":"Neurological muscular channelopathy due to a genetic sodium channel defect","classifications":[156,181]},{"orpha":206976,"name":"Periodic paralysis","classifications":[181]}],"children":[],"genes":[{"symbol":"KCNE3","name":"potassium voltage-gated channel subfamily E regulatory subunit 3","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"14504341[PMID]_15037713[PMID]","hgnc":"6243","ensembl":"ENSG00000175538","omim":"604433","loci":["11q13.4"]},{"symbol":"CACNA1S","name":"calcium voltage-gated channel subunit alpha1 S","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301512[PMID]","hgnc":"1397","ensembl":"ENSG00000081248","omim":"114208","loci":["1q32.1"]},{"symbol":"SCN4A","name":"sodium voltage-gated channel alpha subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301512[PMID]","hgnc":"10591","ensembl":"ENSG00000007314","omim":"603967","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"20301512[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"Netherlands","status":"Validated","source":"29606556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"United Kingdom","status":"Validated","source":"23516313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-04","source":"20301512[PMID]_26935888[PMID]_6022527[PMID]_15534250[PMID]_5637755[PMID]_2276049[PMID]_5353150[PMID]_16467598[PMID]_10074484[PMID]_9066893[PMID]_NBK1338[OTHER]_3659246[PMID]","terms":[{"hpo":"HP:0012726","label":"Episodic hypokalemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008153","label":"Periodic hypokalemic paresis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003752","label":"Episodic flaccid weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012548","label":"Fatty replacement of skeletal muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003694","label":"Late-onset proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030196","label":"Fatigable weakness of respiratory muscles","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002203","label":"Respiratory paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006670","label":"Impaired myocardial contractility","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Excluded (0%)","criteria":null}]}}