{"Name":"Autosomal dominant myoglobinuria","DiseaseID__c":"GARD:0016917","id":16917,"encodedName":"autosomal-dominant-myoglobinuria","IsDeleted":false,"Disease_Name_Full__c":"Autosomal dominant myoglobinuria","Xref_IDs__c":"725903003; C1834567; C563546; MEDGEN:320384; MONDO:0008046; OMIM:160010; ORPHA:99846","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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0008046","Disease_Description__c":"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness. There have been no further descriptions in the literature since 1997.","GARD_Name__c":"Autosomal dominant myoglobinuria","GARD_Synonym__c":"myoglobinuria, autosomal dominant","Curated_Disease_Description_Source__c":"ORPHA:99846","Curated_Disease_Description__c":"A rare metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99846","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008046","ORPHANET_ID__c":"ORPHA:99846","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mioglobinuria autosómica dominante","Spanish_Description_Source__c":"ORPHA:99846","Spanish_Description__c":"Es una miopatía metabólica poco frecuente caracterizada por mialgia episódica con mioglobinuria que está inducida por fiebre, infección viral y bacteriana, el ejercicio prolongado o el abuso de alcohol y que, en ocasiones, puede derivar en fallo renal agudo. Entre episodios, los afectados pueden estar asintomáticos o presentar niveles elevados de creatinquinasa y leve debilidad muscular. Desde 1997 no se ha descrito nuevos casos en la literatura.","Spanish_Disease_Name__c":"mioglobinuria autosómica dominante","Spanish_GARD_Synonym__c":null,"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 metabolic myopathy characterized by episodic myalgia with myoglobinuria which is induced by fever, viral or bacterial infection, prolonged exercise or alcohol abuse, and could, on occasion, lead to acute renal failure. Between episodes, patients may be asymptomatic or could present elevated creatine kinase levels and mild muscle weakness.","Curated_Disease_Description_Source__c":"ORPHA:99846","GARD_Synonym__c":"myoglobinuria, autosomal dominant","Name":"Autosomal dominant myoglobinuria","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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:99846"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563546","Source__c":"MONDO:0008046","Xref__c":"C563546"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1834567","Source__c":"C1834567","Xref__c":"C1834567"},{"URL__c":"https://www.orpha.net/en/disease/detail/99846","Source__c":"C1834567; MONDO:0008046; ORPHA:99846","Xref__c":"ORPHA:99846"},{"URL__c":"https://www.omim.org/entry/160010","Source__c":"C1834567; MONDO:0008046; ORPHA:99846","Xref__c":"OMIM:160010"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725903003","Source__c":"C1834567; MONDO:0008046","Xref__c":"725903003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320384","Source__c":"C1834567","Xref__c":"MEDGEN:320384"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008046","Source__c":"GARD:0016917","Xref__c":"MONDO:0008046"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:160010","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:160010","Feature__r":{"HPO_Description__c":"Presence of myoglobin in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002913","HPO_Name__c":"Myoglobinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:160010","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":"OMIM:160010","Feature__r":{"HPO_Description__c":"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001919","HPO_Synonym__c":"Acute kidney failure; Acute renal failure; AKI","HPO_Name__c":"Acute kidney injury","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:160010","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["myoglobinuria, autosomal dominant"]}