{"Name":"Metabolic myopathy due to lactate transporter defect","DiseaseID__c":"GARD:0017067","id":17067,"encodedName":"metabolic-myopathy-due-to-lactate-transporter-defect","IsDeleted":false,"Disease_Name_Full__c":"Metabolic myopathy due to lactate transporter defect","Xref_IDs__c":"766715000; C1855577; C565449; MEDGEN:344529; MONDO:0009501; OMIM:245340; ORPHA:171690","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0009501","Disease_Description__c":"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.","GARD_Name__c":"Metabolic myopathy due to lactate transporter defect","GARD_Synonym__c":"erythrocyte lactate transporter defect; lactate transporter defect, myopathy due to","Curated_Disease_Description_Source__c":"MONDO:0009501","Curated_Disease_Description__c":"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:171690","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009501","ORPHANET_ID__c":"ORPHA:171690","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Miopatía metabólica por defecto del trasportador de lactato","Spanish_Description_Source__c":"ORPHA:171690","Spanish_Description__c":"La miopatía metabólica por defecto del transportador de lactato, es una miopatía metabólica poco frecuente caracterizada por calambres musculares y/o rigidez después del ejercicio (especialmente durante la exposición al calor), rabdomiolisis post-esfuerzo y mioglobinuria, así como elevación de la creatinquinasa sérica.","Spanish_Disease_Name__c":"miopatía metabólica por defecto del trasportador de lactato","Spanish_GARD_Synonym__c":"defecto en el trasportador del lactacto eritrocitario","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":"Metabolic myopathy due to lactate transporter defect is a rare metabolic myopathy characterized by muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria, and elevation of serum creatine kinase.","Curated_Disease_Description_Source__c":"MONDO:0009501","GARD_Synonym__c":"erythrocyte lactate transporter defect; lactate transporter defect, myopathy due to","Name":"Metabolic myopathy due to lactate transporter defect","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565449","Source__c":"MONDO:0009501","Xref__c":"C565449"},{"URL__c":"https://www.orpha.net/en/disease/detail/171690","Source__c":"C1855577; MONDO:0009501; ORPHA:171690","Xref__c":"ORPHA:171690"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=344529","Source__c":"C1855577","Xref__c":"MEDGEN:344529"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1855577","Source__c":"C1855577","Xref__c":"C1855577"},{"URL__c":"https://www.omim.org/entry/245340","Source__c":"C1855577; MONDO:0009501; ORPHA:171690","Xref__c":"OMIM:245340"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766715000","Source__c":"C1855577; MONDO:0009501","Xref__c":"766715000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009501","Source__c":"GARD:0017067","Xref__c":"MONDO:0009501"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC16A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:245340","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":"OMIM:245340","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles brought on by physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003710","HPO_Synonym__c":"Exercise-induced muscle cramping; Exercise-induced muscle cramps; Muscle cramps following exercise; Muscle cramps on exercise; Muscle cramps on exertion; Muscle cramps with exertion","HPO_Name__c":"Exercise-induced muscle cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245340","Feature__r":{"HPO_Description__c":"An abnormally increased tendency towards muscle fatigue induced by physical exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009020","HPO_Name__c":"Exercise-induced muscle fatigue","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:245340","Feature__r":{"HPO_Description__c":"A type of muscle stiffness that occurs following physical exertion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008967","HPO_Synonym__c":"Exercise-induced muscle stiffness; Muscle stiffness with exercise; Muscle stiffness, exercise-induced","HPO_Name__c":"Exercise-induced muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["erythrocyte lactate transporter defect"," lactate transporter defect, myopathy due to"]}