{"orpha":29822,"name":"Spontaneous periodic hypothermia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Episodic spontaneous hypothermia","Shapiro syndrome"],"definition":"A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-29822/","orphanet_url":"https://www.orpha.net/en/disease/detail/29822","names":{"fr":{"name":"Hypothermie périodique spontanée","synonyms":["Syndrome de Shapiro"],"definition":"Maladie neurologique rare caractérisée par des épisodes spontanés d'hypothermie et d'hyperhidrose en l'absence de lésions hypothalamiques."},"de":{"name":"Spontane periodische Hypothermie","synonyms":["Hypothermie, episodische spontane","Shapiro-Syndrom"],"definition":"Die Spontane periodische Hypothermie (SPH) ist eine neurologische Erkrankung mit spontaner periodischer Hypothermie und Hyperhidrose ohne hypothalamische Läsionen."},"es":{"name":"Hipotermia periódica espontánea","synonyms":["Hipotermia episódica espontánea","Síndrome de Shapiro"],"definition":"Es un trastorno neurológico poco frecuente caracterizado por hipotermia periódica espontánea e hiperhidrosis en ausencia de lesiones hipotalámicas."},"it":{"name":"Ipotermia periodica spontanea","synonyms":["Ipotermia spontanea episodica","Sindrome di Shapiro"],"definition":"Si tratta di una malattia neurologica rara caratterizzata da ipotermia periodica spontanea e iperidrosi, in assenza di lesioni dell'ipotalamo."},"nl":{"name":"Spontane periodieke hypothermie","synonyms":["Episodische spontane hypothermie","Syndroom van Shapiro"],"definition":"Een zeldzame neurologische stoornis gekarakteriseerd door spontane periodieke hypothermie en hyperhidrose in afwezigheid van hypothalamische letsels."},"pt":{"name":"Hipotermia periódica espontânea","synonyms":["Síndrome Shapiro"]},"pl":{"name":"Spontaniczna przejściowa hipotermia","synonyms":["Okresowa spontaniczna hipotermia","Zespół Shapiro"]},"cs":{"name":"Spontánní periodická hypotermie","synonyms":["Epizodická spontánní hypotermie","Shapirův syndrom"]},"uk":{"name":"Спонтанна періодична гіпотермія","synonyms":["Епізодична спонтанна гіпотермія","Синдром Шапіро"],"definition":"A rare neurologic disorder characterized by spontaneous periodic hypothermia and hyperhidrosis in the absence of hypothalamic lesions."},"zh":{"name":"自发性周期性低体温","synonyms":["间歇性自发性低体温"]},"tr":{"name":"Sponten periyodik hipotermi","synonyms":["Shapiro sendromu","Epizodik spontan hipotermi"]}},"xrefs":[{"source":"ICD-10","code":"G90.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D80","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1098242946"},{"source":"MONDO","code":"0017577","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537594","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931542","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4815","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"21166673[PMID]_15990200[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal pattern of respiration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Occasional (29-5%)","criteria":null}]}}