{"orpha":280062,"name":"Calciphylaxis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280062/","orphanet_url":"https://www.orpha.net/en/disease/detail/280062","names":{"fr":{"name":"Calciphylaxie","definition":"Maladie rare de la calcification vasculaire généralement caractérisée par l'occlusion des microvaisseaux dans le tissu sous-cutané provoquant des lésions cutanées douloureuses. L'espérance de vie des patients est souvent limitée."},"de":{"name":"Kalziphylaxie","synonyms":["CUA","Calciphylaxie","Kalzifizierende urämische Arteriolopathie"],"definition":"Eine seltene vaskuläre Kalzifikation, die typischerweise durch den Verschluss von Mikrogefäßen im Hautgewebe gekennzeichnet ist und zu schmerzhaften Hautläsionen führt. Die Erkrankung ist häufig lebensbedrohlich."},"es":{"name":"Calcifilaxis","definition":"Es un trastorno de calcificación vascular poco frecuente caracterizado por la oclusión de microvasos en el tejido cutáneo, lo que provoca lesiones cutáneas dolorosas. Es un trastorno grave con efectos negativos sobre la esperanza de vida."},"it":{"name":"Calcifilassi","definition":"Si tratta di una malattia vascolare rara associata a calcificazioni, di solito caratterizzata dall'occlusione dei microvasi del tessuto cutaneo che causa lesioni cutanee dolorose. Spesso la malattia è letale."},"nl":{"name":"Calciphylaxis","synonyms":["Calcificerende arteriolopathie door uremie","Calcificerende uremische arteriolopathie","Calcifylaxie"],"definition":"Een zeldzame aandoening van vasculaire calcificatie, doorgaans gekenmerkt door occlusie van microvaten in huidweefsel met pijnlijke cutane laesies tot gevolg. De aandoening is vaak levensbeperkend."},"pt":{"name":"Calcifilaxia","definition":"Anomalia rara de calcificação vascular habitualmente caracterizada por oclusão dos microvasos no tecido cutâneo resultando em lesões cutâneas dolorosas e redução da esperança média de vida."},"pl":{"name":"Kalcyfilaksja"},"cs":{"name":"Kalcifylaxe"},"uk":{"name":"Кальцифілаксія","definition":"A rare vascular calcification disorder typically characterized by occlusion of microvessels in the cutaneous tissue resulting in painful cutaneous lesions. The disorder is often life-limiting."},"zh":{"name":"钙过敏症"},"tr":{"name":"Kalsifilaksi"}},"xrefs":[{"source":"ICD-10","code":"E83.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EB90.42","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"574291789"},{"source":"MONDO","code":"0017215","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0006666","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5980","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051714","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":496924,"name":"Non-inflammatory vasculopathy","classifications":[198]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[{"orpha":280065,"name":"Calciphylaxis cutis","type":"Clinical subtype"},{"orpha":280068,"name":"Visceral calciphylaxis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-02-22","source":"9426423[PMID]_26394755[PMID]","terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011122","label":"Abnormality of skin physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003207","label":"Arterial calcification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011986","label":"Ectopic ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100758","label":"Gangrene","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002905","label":"Hyperphosphatemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000867","label":"Secondary hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100806","label":"Sepsis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033260","label":"Livedo racemosa","frequency":"Frequent (79-30%)","criteria":null}]}}