{"Name":"Glycogen storage disease type X","DiseaseID__c":"GARD:0009964","id":9964,"encodedName":"glycogen-storage-disease-type-x","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease type X","Xref_IDs__c":"61772003; C0268149; C131647; C536176; MEDGEN:120613; MONDO:0009865; OMIM:261670; ORPHA:97234","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009865","Disease_Description__c":"A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.","GARD_Name__c":"Glycogen storage disease type X","GARD_Synonym__c":"dimauro disease; glycogen storage disease caused by mutation in pgam2; glycogen storage disease due to phosphoglycerate mutase deficiency; glycogen storage disease type 10; glycogenosis due to phosphoglycerate mutase deficiency; gsd due to phosphoglycerate mutase deficiency; gsd type 10; gsd x; gsd x - glycogen storage disease type x; gsd10; muscle phosphoglycerate mutase deficiency; myopathy due to phosphoglycerate mutase deficiency; pgam2 glycogen storage disease; pgamm deficiency; phosphoglycerate mutase, muscle, deficiency of","Curated_Disease_Description_Source__c":"ORPHA:97234","Curated_Disease_Description__c":"Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:97234","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009865","ORPHANET_ID__c":"ORPHA:97234","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa","Spanish_GARD_Synonym__c":"deficiencia de fosfoglicerato mutasa muscular; deficiencia de pgam; deficiencia de pgam-m; enfermedad de almacenamiento de glucógeno por deficiencia de fosfoglicerato mutasa 2; enfermedad de almacenamiento de glucógeno por deficiencia del gen pgam2; enfermedad de almacenamiento de glucógeno tipo 10; enfermedad de almacenamiento de glucógeno tipo x; enfermedad de dimauro; glucogenosis por deficiencia de fosfoglicerato mutasa 2; gsd por deficiencia de fosfoglicerato mutasa 2; gsd tipo 10; miopatía por deficiencia de fosfoglicerato mutasa","Category_Linearization__c":"ORPHA:68367","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":"Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, affected individuals experience muscle aches or cramping following strenuous physical activity. Some people with this condition also have recurrent episodes of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally and releases a protein called myoglobin, which is processed by the kidneys and released in the urine. If untreated, myoglobinuria can lead to kidney failure. In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped structures called tubular aggregates are seen in muscle fibers. It is unclear how tubular aggregates are associated with the signs and symptoms of the disorder.","Curated_Disease_Description_Source__c":"ORPHA:97234","GARD_Synonym__c":"dimauro disease; glycogen storage disease caused by mutation in pgam2; glycogen storage disease due to phosphoglycerate mutase deficiency; glycogen storage disease type 10; glycogenosis due to phosphoglycerate mutase deficiency; gsd due to phosphoglycerate mutase deficiency; gsd type 10; gsd x; gsd x - glycogen storage disease type x; gsd10; muscle phosphoglycerate mutase deficiency; myopathy due to phosphoglycerate mutase deficiency; pgam2 glycogen storage disease; pgamm deficiency; phosphoglycerate mutase, muscle, deficiency of","Name":"Glycogen storage disease type X","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:97234"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:97234"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009964","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/97234","Source__c":"C0268149; MONDO:0009865; ORPHA:97234","Xref__c":"ORPHA:97234"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268149","Source__c":"C0268149","Xref__c":"C0268149"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131647","Source__c":"C0268149; MONDO:0009865","Xref__c":"C131647"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61772003","Source__c":"C0268149; MONDO:0009865","Xref__c":"61772003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536176","Source__c":"MONDO:0009865","Xref__c":"C536176"},{"URL__c":"https://www.omim.org/entry/261670","Source__c":"C0268149; MONDO:0009865; ORPHA:97234","Xref__c":"OMIM:261670"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120613","Source__c":"C0268149","Xref__c":"MEDGEN:120613"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009865","Source__c":"GARD:0009964","Xref__c":"MONDO:0009865"},{"URL__c":"https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency","Source__c":"GARD:0009964","Xref__c":"https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PGAM2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pgam2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:261670","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:261670","Feature__r":{"HPO_Description__c":"Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003201","HPO_Synonym__c":"Breakdown of skeletal muscle","HPO_Name__c":"Rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261670","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":"OMIM:261670","Feature__r":{"HPO_Description__c":"The occurrence of an unusually high amount of muscle pain following exercise.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003738","HPO_Synonym__c":"Exercise-induced muscle pain; Muscle pain on exercise; Muscle pain with exercise; Muscle pain, exercise-induced","HPO_Name__c":"Exercise-induced myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261670","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:261670","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:261670","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:261670","Feature__r":{"HPO_Description__c":"A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003546","HPO_Synonym__c":"Decreased ability to exercise; Inability to exercise; Low exercise endurance; Poor exercise tolerance","HPO_Name__c":"Exercise intolerance","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","Pediatrics"]},"synonyms":["dimauro disease"," glycogen storage disease caused by mutation in pgam2"," glycogen storage disease due to phosphoglycerate mutase deficiency"," glycogen storage disease type 10"," glycogenosis due to phosphoglycerate mutase deficiency"," gsd due to phosphoglycerate mutase deficiency"," gsd type 10"," gsd x"," gsd x - glycogen storage disease type x"," gsd10"," muscle phosphoglycerate mutase deficiency"," myopathy due to phosphoglycerate mutase deficiency"," pgam2 glycogen storage disease"," pgamm deficiency"," phosphoglycerate mutase, muscle, deficiency of"]}