{"orpha":79102,"name":"Thyrotoxic periodic paralysis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thyrotoxic hypokalemic periodic paralysis"],"definition":"A form of acquired hypokalemic periodic paralysis characterized by a triad of acute flaccid paralysis, hypokalemia, and thyrotoxicosis. These episodes vary in duration, lasting from 2 to 72&nbsp;hours, and in severity, ranging from paresis to complete paralysis. Attacks are triggered by carbohydrate-rich meals or by strenuous physical activity, followed by a period of rest.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79102/","orphanet_url":"https://www.orpha.net/en/disease/detail/79102","names":{"fr":{"name":"Paralysie périodique thyrotoxique","synonyms":["Paralysie périodique thyrotoxique hypokaliémique"],"definition":"Forme de paralysie périodique hypokaliémique acquise caractérisée par une triade associant paralysie flasque aiguë, hypokaliémie et thyrotoxicose. La durée de ces épisodes varient entre 2 et 72&nbsp;heures, tout comme leur sévérité, allant d'une parésie à une paralysie complète. Les crises sont déclenchées par des repas riches en glucides ou par une activité physique intense, suivis d'une période de repos."},"de":{"name":"Paralyse, periodische thyreotoxische","synonyms":["Thyreotoxische hypokaliämische periodische Paralyse"],"definition":"Die Thyreotoxische periodische Paralyse (TPP) ist eine seltene neurologische Krankheit mit rezidivierenden Episoden von Paralyse und Hypokaliämie während thyreotoxischer Krisen."},"es":{"name":"Parálisis periódica tirotóxica","definition":"La parálisis periódica tirotóxica (PPT) es una enfermedad neurológica rara caracterizada por episodios recurrentes de parálisis e hipopotasemia durante un estado tirotóxico."},"it":{"name":"Paralisi periodica tireotossica"},"nl":{"name":"Thyreotoxische periodieke paralyse","synonyms":["Thyreotoxische hypokaliëmische periodieke paralyse","Thyreotoxische periodieke verlamming"],"definition":"Een vorm van verworven hypokaliëmische periodieke verlamming, gekenmerkt door de triade van acute slappe paralyse, hypokaliëmie, en thyreotoxicose. Deze episodes variëren in duur, gaande van 2 tot 72 uur, en in ernst, gaande van parese tot volledige paralyse. Aanvallen worden uitgelokt door maaltijden met veel koolhydraten of zware fysieke activiteit gevolgd door een rustperiode."},"pt":{"name":"Paralisia periódica tireotóxica"},"pl":{"name":"Tyreotoksyczny paraliż okresowy","synonyms":["Tyreotoksyczny hipokalemiczny paraliż okresowy"]},"cs":{"name":"Tyreotoxická periodická paralýza","synonyms":["Tyreotoxická hypokalemická periodická paralýza"]},"uk":{"name":"Тиреотоксичний періодичний параліч","synonyms":["Тиреотоксичний гіпокаліємічний періодичний параліч"],"definition":"Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state."},"zh":{"name":"甲状腺毒性周期性麻痹","synonyms":["甲状腺毒性低钾周期性麻痹"]},"tr":{"name":"Tirotoksik periyodik paraliz","synonyms":["Tirotoksik hipokalemik periyodik paraliz"]}},"xrefs":[{"source":"OMIM","code":"188580","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613239","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614834","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G72.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A02.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1457837313"},{"source":"MONDO","code":"0019201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268446","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10814","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10043788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":206976,"name":"Periodic paralysis","classifications":[181]}],"children":[],"genes":[{"symbol":"CACNA1S","name":"calcium voltage-gated channel subunit alpha1 S","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"15001631[PMID]","hgnc":"1397","ensembl":"ENSG00000081248","omim":"114208","loci":["1q32.1"]},{"symbol":"GABRA3","name":"gamma-aminobutyric acid type A receptor subunit alpha3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"17970773[PMID]","hgnc":"4077","ensembl":"ENSG00000011677","omim":"305660","loci":["Xq28"]},{"symbol":"KCNJ18","name":"potassium inwardly rectifying channel subfamily J member 18","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"20074522[PMID]","hgnc":"39080","ensembl":"ENSG00000260458","omim":"613236","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-20","source":"22918841[PMID]_5353150[PMID]_13696795[PMID]_7092449[PMID]_16467598[PMID]_NBK285567[OTHER]_7711509[PMID]_26935888[PMID]_22863731[PMID]_25566931[PMID]_ 5353150[PMID]","terms":[{"hpo":"HP:0012726","label":"Episodic hypokalemia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008153","label":"Periodic hypokalemic paresis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012364","label":"Decreased urinary potassium","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:0100647","label":"Graves disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002917","label":"Hypomagnesemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012240","label":"Increased intramyocellular lipid droplets","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008180","label":"Mildly elevated creatine kinase","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011784","label":"Thyrotoxicosis with diffuse goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011785","label":"Thyrotoxicosis with toxic multinodular goitre","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011786","label":"Thyrotoxicosis with toxic single thyroid nodule","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008285","label":"Transient hypophosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009020","label":"Exercise-induced muscle fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003552","label":"Muscle stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011998","label":"Postprandial hyperglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003694","label":"Late-onset proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011706","label":"Second degree atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005165","label":"Shortened PR interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001663","label":"Ventricular fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002203","label":"Respiratory paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003134","label":"Abnormality of peripheral nerve conduction","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0006670","label":"Impaired myocardial contractility","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Excluded (0%)","criteria":null}]}}