{"orpha":206599,"name":"Isolated asymptomatic elevation of creatine phosphokinase","type":"Biological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic asymptomatic hyperCKemia","Isolated asymptomatic hyperCKemia"],"definition":"A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-206599/","orphanet_url":"https://www.orpha.net/en/disease/detail/206599","names":{"fr":{"name":"Elévation isolée asymptomatique de la créatine phosphokinase","synonyms":["Elévation isolée de la CPK","HyperCKémie isolée asymptomatique"],"definition":"Anomalie biologique de type neurologique rare caractérisée par une élévation persistante du taux sérique de créatine phosphokinase (CK) en l'absence de tout signe clinique, neurophysique ou histopathologique de maladie neuromusculaire identifié à l'aide des tests de laboratoire disponibles. La maladie est généralement détectée de manière fortuite et le diagnostic est établi après avoir exclu d'autres causes possibles d'élévation des taux de CK."},"de":{"name":"Erhöhung der Kreatinphosphokinase, isolierte asymptomatische Form","synonyms":["HyperCKämie, asymptomatische, idiopathische","HyperCKämie, asymptomatische, isolierte"],"definition":"Eine seltene neurobiologische Anomalie, die durch eine anhaltende Erhöhung der Kreatinphosphokinase (CK) im Serum gekennzeichnet ist, ohne dass mit den verfügbaren Laborverfahren klinische, neurophysikalische oder histopathologische Hinweise auf eine neuromuskuläre Erkrankung vorliegen. Es handelt sich in der Regel um einen Zufallsbefund, der nach Ausschluss anderer möglicher Ursachen für erhöhte CK-Werte diagnostiziert wird."},"es":{"name":"Elevación aislada asintomática de creatinfosfoquinasa","synonyms":["HiperCKemia asintomática aislada","HiperCKemia asintomática idiopática"],"definition":"Es una anomalía biológica de carácter neurológico poco frecuente caracterizada por la elevación persistente de creatinfosfoquinasa sérica (CK) sin ninguna evidencia clínica, neurofísica o histopatológica de enfermedad neuromuscular, utilizando los procedimientos habituales de laboratorio. Por lo general es un hallazgo incidental diagnosticado después de excluir otras posibles causas de niveles elevados de CK."},"it":{"name":"Aumento isolato asintomatico della creatin-fosfochinasi","definition":"L'aumento isolato asintomatico della creatin-fosfochinasi è una malattia neurologica rara, caratterizzata da un aumento persistente dei livelli di creatin-fosfochinasi (CK) nel siero, in assenza di evidenze cliniche, neurofisiche o istopatologiche di una malattia neuromuscolare, sulla base delle tecniche di laboratorio disponibili. Di solito viene individuato causalmente e diagnosticato dopo avere escluso le altre possibili cause di aumento dei livelli di CK."},"nl":{"name":"Geïsoleerde asymptomatische verhoging van creatinefosfokinase","synonyms":["Geïsoleerde asymptomatische hyperCKemie","Idiopathische asymptomatische hyperCKemie"],"definition":"Een zeldzame, neurologische, biologische anomalie, gekarakteriseerd door persisterende toename van creatinefosfokinase (CK) in serum zonder enig klinisch, neurofysisch of histopathologisch bewijs van neuromusculaire ziekte op basis van de beschikbare laboratoriumtesten. Meestal gaat het om een toevallige bevinding, gediagnosticeerd na uitsluiting van andere mogelijke oorzaken van verhoogde CK-gehaltes."},"pt":{"name":"Elevação isolada e assintomática de creatina fosfoquinase"},"pl":{"name":"Izolowany bezobjawowy podwyższony poziom fosfokinazy kreatyny","synonyms":["Idiopathic asymptomatic hyperCKemia","Isolated asymptomatic hyperCKemia"],"definition":"*Izolowane bezobjawowe podwyższenie stężenia fosfokinazy kreatyny jest rzadką chorobą neurologiczną, która charakteryzuje się utrzymującym się podwyższeniem aktywności kinazy fosfokreatynowej (CK) w surowicy bez żadnych klinicznych, neurofizjologicznych lub histopatologicznych objawów choroby nerwowo-mięśniowej, możliwej do stwierdzenia za pomocą dostępnych procedur laboratoryjnych. Zwykle jest wykrywane przypadkowo, a rozpoznanie ustala się po wykluczeniu innych możliwych przyczyn podwyższonego stężenia CK."},"cs":{"name":"Izolovaná asymptomatická elevace kreatinfosfokinázy","synonyms":["Idiopathic asymptomatic hyperCKemia","Isolated asymptomatic hyperCKemia"]},"uk":{"name":"Ізольоване безсимптомне підвищення рівня креатинфосфокінази","synonyms":["Ідіопатична безсимптомна гіперКФК","Ізольована безсимптомна гіперКФК"],"definition":"A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels."},"zh":{"name":"孤立性无症状肌酸磷酸激酶升高","synonyms":["特发性无症状高CK血症"],"definition":"孤立性无症状性肌酸激酶升高是一种罕见的神经生物学异常，其主要临床表现为血清肌酸磷酸激酶（CK）持续升高，而没有任何临床、神经物理学或组织病理学证据证明神经肌肉疾病。通常先排除其他可能导致CK水平升高的病因后，才诊断该病。"},"tr":{"name":"İzole asemptomatik kreatin fosfokinaz yükselmesi","synonyms":["İzole asemptomatik hiperkemi","İdiyopatik asemptomatik hiperkemi"]}},"xrefs":[{"source":"OMIM","code":"123320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"R74.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"MONDO","code":"0016103","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":207078,"name":"Qualitative or quantitative defects of caveolin-3","classifications":[156]},{"orpha":207085,"name":"Qualitative or quantitative defects of dystrophin","classifications":[156]}],"children":[],"genes":[{"symbol":"ANO5","name":"anoctamin 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31517061[PMID]_22402862[PMID]","hgnc":"27337","ensembl":"ENSG00000171714","omim":"608662","loci":["11p14.3"]},{"symbol":"CAV3","name":"caveolin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10746614[PMID]","hgnc":"1529","ensembl":"ENSG00000182533","omim":"601253","loci":["3p25.3"]},{"symbol":"DAG1","name":"dystroglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38177406[PMID]","hgnc":"2666","ensembl":"ENSG00000173402","omim":"128239","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-12-07","source":"26000160[PMID]","terms":[{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008331","label":"Elevated creatine kinase after exercise","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Excluded (0%)","criteria":null}]}}