{"Name":"Isolated asymptomatic elevation of creatine phosphokinase","DiseaseID__c":"GARD:0020356","id":20356,"encodedName":"isolated-asymptomatic-elevation-of-creatine-phosphokinase","IsDeleted":false,"Disease_Name_Full__c":"Isolated asymptomatic elevation of creatine phosphokinase","Xref_IDs__c":"773990006; C148327; C4751434; DOID:0111338; MEDGEN:1668524; MONDO:0016103; OMIM:123320; ORPHA:206599","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016103","Disease_Description__c":"Isolated hyperCKemia is a condition characterized by elevated levels of an enzyme called creatine kinase in the blood. In affected individuals, levels of this enzyme are typically 3 to 10 times higher than normal. While elevated creatine kinase often accompanies various muscle diseases, individuals with isolated hyperCKemia have no muscle weakness or other symptoms. Some people with this condition have abnormalities of muscle cells that can be seen with a microscope, such as unusual variability in the size of muscle fibers, but these changes do not affect the function of the muscle.","GARD_Name__c":"Isolated asymptomatic elevation of creatine phosphokinase","GARD_Synonym__c":"hyperckmia; idiopathic asymptomatic hyperckemia; isolated asymptomatic hyperckemia; isolated hyperckemia","Curated_Disease_Description_Source__c":"MONDO:0016103","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:206599","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016103","ORPHANET_ID__c":"ORPHA:206599","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Elevación aislada asintomática de creatinfosfoquinasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"elevación aislada asintomática de creatinfosfoquinasa","Spanish_GARD_Synonym__c":"hiperckemia asintomática aislada; hiperckemia asintomática idiopática","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0016103","GARD_Synonym__c":"hyperckmia; idiopathic asymptomatic hyperckemia; isolated asymptomatic hyperckemia; isolated hyperckemia","Name":"Isolated asymptomatic elevation of creatine phosphokinase","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:206599"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4751434","Source__c":"C4751434","Xref__c":"C4751434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1668524","Source__c":"C4751434","Xref__c":"MEDGEN:1668524"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C148327","Source__c":"MONDO:0016103","Xref__c":"C148327"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111338","Source__c":"MONDO:0016103","Xref__c":"DOID:0111338"},{"URL__c":"https://www.orpha.net/en/disease/detail/206599","Source__c":"C4751434; MONDO:0016103; ORPHA:206599","Xref__c":"ORPHA:206599"},{"URL__c":"https://www.omim.org/entry/123320","Source__c":"ORPHA:206599","Xref__c":"OMIM:123320"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773990006","Source__c":"C4751434","Xref__c":"773990006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016103","Source__c":"GARD:0020356","Xref__c":"MONDO:0016103"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CAV3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cav3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:206599","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:206599","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008331","HPO_Synonym__c":"Elevated CK after exercise; Elevated CPK after exercise; Elevated creatine phosphokinase after exercise; Elevated phospho-CK after exercise; Elevated phospho-creatine kinase after exercise; Increased CK after exercise; Increased creatine kinase after exercise; Increased creatine phosphokinase after exercise; Increased phospho-CK after exercise; Increased phospho-creatine kinase after exercise","HPO_Name__c":"Elevated creatine kinase after exercise","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:206599","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["hyperckmia"," idiopathic asymptomatic hyperckemia"," isolated asymptomatic hyperckemia"," isolated hyperckemia"]}