{"orpha":682,"name":"Hyperkalemic periodic paralysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adynamia episodica hereditaria","Familial hyperPP","Familial hyperkalemic periodic paralysis","Gamstorp disease","Gamstorp episodic adynamy","HYPP","HyperKPP","HyperPP","Hyperkalemic PP","Primary hyperPP","Primary hyperkalemic periodic paralysis"],"definition":"A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-682/","orphanet_url":"https://www.orpha.net/en/disease/detail/682","names":{"fr":{"name":"Paralysie périodique hyperkaliémique","synonyms":["Adynamie épisodique de Gamstorp","Adynamie épisodique héréditaire","HYPP","HyperPP","Maladie de Gamstorp","PPHyperK"],"definition":"La paralysie périodique hyperkaliémique (PPHK) est un trouble musculaire caractérisé par des épisodes de faiblesse musculaire associés à une augmentation du taux de potassium sérique."},"de":{"name":"Paralyse, hyperkaliämische periodische","synonyms":["Adynamia episodica hereditaria","Familiäre HyperPP","Familiäre hyperkaliämische periodische Paralyse","Gamstorp-Syndrom","HyperPP","Hyperkaliämische PP","Primäre HyperPP"],"definition":"Die Hyperkaliämische periodische Paralyse (HyperPP) ist eine Muskelerkrankung mit episodischen Attacken von Muskelschwäche in Verbindung mit erhöhtem Serumspiegel des Kaliums."},"es":{"name":"Parálisis periódica hiperpotasémica","synonyms":["Adinamia episódica de Gamstorp","Adinamia episódica hereditaria","Enfermedad de Gamstorp","HYPP","HiperKPP","HiperPP","HiperPP familiar","HiperPP primaria","PP hipercalémica","Parálisis periódica hipercaliémica","Parálisis periódica hipercalémica","Parálisis periódica hipercalémica primaria"],"definition":"Es un trastorno muscular caracterizado por ataques episódicos de debilidad muscular asociados a un aumento de la concentración de potasio en suero."},"it":{"name":"Paralisi periodica iperkaliemica","synonyms":["Adinamia episodica di Gamstorp","Adinamia episodica ereditaria","HYPP","IperKPP","IperPP","IperPP familiare","IperPP primitiva","Malattia di Gamstorp","PP iperkaliemica","Paralisi periodica iperkaliemica familiare","Paralisi periodica iperkaliemica primitiva"],"definition":"La paralisi periodica iperkaliemica (HiperPP) è un disturbo muscolare caratterizzato da attacchi episodici di debolezza muscolare associati a un aumento della concentrazione di potassio nel siero."},"nl":{"name":"Hyperkaliëmische periodieke paralyse","synonyms":["Adynamia episodica hereditaria","Familiale HyperPP","Familiale hyperkaliëmische periodieke verlamming","Gamstorp episodische adynamie","HYPP","HyperKPP","HyperPP","Hyperkaliëmische PP","Primaire hyperPP","Primaire hyperkaliëmische periodieke verlamming","Ziekte van Gamstorp"],"definition":"Een zeldzame spieraandoening gekarakteriseerd door episodische aanvallen van spierzwakte geassocieerd met een toename van de concentratie van kalium in serum."},"pt":{"name":"Paralisia periódica hipercaliémica","synonyms":["Adinamia episódica de Gamstorp"],"definition":"A paralisia periódica hipercalémica (HyperPP) é uma doença muscular caracterizada por ataques episódicos de fraqueza muscular associada a um aumento na concentração de potássio sérico."},"pl":{"name":"Okresowe porażenie hiperkaliemiczne","synonyms":["Adynamia okresowa Gamstorpa","Choroba Gamstorpa","HiperKPP","Hiperpotasemiczne","HiperPP","HYPP","Okresowa adynamia wrodzona","Pierwotne hiperPP","Pierwotne okresowe porażenie hiperkaliemiczne","Rodzinne hiperPP","Rodzinne okresowe porażenie hiperkaliemiczne"]},"cs":{"name":"Hyperkalemická periodická paralýza","synonyms":["Adynamia episodica hereditaria","Rodinná hyperPP","Familiární hyperkalemická periodická paralýza","Gamstorpova nemoc","Gamstorpova epizodická adynamie","HYPP","HyperKPP","HyperPP","Hyperkalemická PP","Primární hyperPP","Primární hyperkalemická periodická paralýza"]},"uk":{"name":"Гіперкаліємічний періодичний параліч","synonyms":["Епізодична спадкова адинамія","Сімейний гіперкаліємічний періодичний параліч","Сімейний гіперПП","Хвороба Гамсторпа","Епізодична динаміка Gamstorp","Гіперкаліємічний ПП","HyperKPP","HyperPP","HYPP","Первинний гіперкаліємічний періодичний параліч","Первинний гіперПП"],"definition":"A rare muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration."},"zh":{"name":"高钾性周期性麻痹","synonyms":["遗传性周期性肌无力"]},"tr":{"name":"Hiperkalemik periyodik paralizi","synonyms":["HYPP","HyperPP","HyperKPP","Hiperkalemik PP","Primer hiperPP","Ailesel hiperPP","Gamstorp hastalığı","Gamstorp epizodik adinami","Adinami episodika hereditari","Primer hiperkalemik periyodik paraliz","Ailesel hiperkalemik periyodik paraliz"]}},"xrefs":[{"source":"OMIM","code":"170500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C74.11","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1308452752"},{"source":"MONDO","code":"0008224","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020513","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0238357","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"195","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":680,"name":"Normokalemic periodic paralysis","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":371433,"name":"Genetic periodic paralysis","classifications":[156]},{"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":"SCN4A","name":"sodium voltage-gated channel alpha subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301669[PMID]_17395131[PMID]","hgnc":"10591","ensembl":"ENSG00000007314","omim":"603967","loci":["17q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"20301669[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Netherlands","status":"Validated","source":"29606556[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.17,"area":"United Kingdom","status":"Validated","source":"23516313[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100021","label":"Cerebral palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003752","label":"Episodic flaccid weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007215","label":"Periodic hyperkalemic paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002380","label":"Fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100613","label":"Death in early adulthood","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002900","label":"Hypokalemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}