{"Name":"Myopathy due to calsequestrin and SERCA1 protein overload","DiseaseID__c":"GARD:0016770","id":16770,"encodedName":"myopathy-due-to-calsequestrin-and-serca1-protein-overload","IsDeleted":false,"Disease_Name_Full__c":"Myopathy due to calsequestrin and SERCA1 protein overload","Xref_IDs__c":"724095006; C4015624; MEDGEN:864061; MONDO:0014546; OMIM:616231; ORPHA:88635","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014546","Disease_Description__c":"A rare, genetic vaculolar myopathy characterised by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.","GARD_Name__c":"Myopathy due to calsequestrin and SERCA1 protein overload","GARD_Synonym__c":"myopathy, vacuolar, with casq1 aggregates; vacuolar aggregate myopathy; vacuolar myopathy with sarcoplasmic reticulum protein aggregates","Curated_Disease_Description_Source__c":"ORPHA:88635","Curated_Disease_Description__c":"A rare, genetic vaculolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:88635","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014546","ORPHANET_ID__c":"ORPHA:88635","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía vacuolar con agregación de proteínas del retículo sarcoplásmico","Spanish_Description_Source__c":"ORPHA:88635","Spanish_Description__c":"Es una miopatía vacuolar de origen genético y poco frecuente caracterizada por miopatía leve o por niveles elevados de creatinquinasa en sangre sin síntomas asociados.","Spanish_Disease_Name__c":"miopatía vacuolar con agregación de proteínas del retículo sarcoplásmico","Spanish_GARD_Synonym__c":"miopatía por exceso de calsecuestrina y proteína serca1; miopatía vacuolar con agregados","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, genetic vaculolar myopathy characterized by mild myopathy or elevated levels of creatine kinase in the blood without associated symptoms.","Curated_Disease_Description_Source__c":"ORPHA:88635","GARD_Synonym__c":"myopathy, vacuolar, with casq1 aggregates; vacuolar aggregate myopathy; vacuolar myopathy with sarcoplasmic reticulum protein aggregates","Name":"Myopathy due to calsequestrin and SERCA1 protein overload","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:88635"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=864061","Source__c":"C4015624","Xref__c":"MEDGEN:864061"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015624","Source__c":"C4015624","Xref__c":"C4015624"},{"URL__c":"https://www.orpha.net/en/disease/detail/88635","Source__c":"C4015624; MONDO:0014546","Xref__c":"ORPHA:88635"},{"URL__c":"https://www.omim.org/entry/616231","Source__c":"C4015624; MONDO:0014546; ORPHA:88635","Xref__c":"OMIM:616231"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724095006","Source__c":"MONDO:0014546","Xref__c":"724095006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014546","Source__c":"GARD:0016770","Xref__c":"MONDO:0014546"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CASQ1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:88635","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"ORPHA:88635","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["myopathy, vacuolar, with casq1 aggregates"," vacuolar aggregate myopathy"," vacuolar myopathy with sarcoplasmic reticulum protein aggregates"]}