{"Name":"Glycogen storage disease due to muscle beta-enolase deficiency","DiseaseID__c":"GARD:0002125","id":2125,"encodedName":"glycogen-storage-disease-due-to-muscle-beta-enolase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease due to muscle beta-enolase deficiency","Xref_IDs__c":"C2752027; C567861; MEDGEN:442873; MONDO:0013046; OMIM:612932; ORPHA:99849","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0013046","Disease_Description__c":"A rare glycolysis disorder characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle.","GARD_Name__c":"Glycogen storage disease due to muscle beta-enolase deficiency","GARD_Synonym__c":"enolase 3 deficiency; enolase-beta deficiency; glycogen storage disease type 13; glycogen storage disease type xiii; glycogenosis due to muscle beta-enolase deficiency; glycogenosis type 13; gsd due to muscle beta-enolase deficiency; gsd xiii; gsd13; gsdxiii; muscle enolase deficiency; muscular enolase deficiency","Curated_Disease_Description_Source__c":"GARD:0002125","Curated_Disease_Description__c":"Glycogen storage disease due to muscle beta-enolase deficiency (GSDXIII) is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSDXIII is caused by changes in the ENO3 gene and is inherited in an autosomal recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:99849","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013046","ORPHANET_ID__c":"ORPHA:99849","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de beta-enolasa muscular","Spanish_Description_Source__c":"ORPHA:99849","Spanish_Description__c":"El déficit de beta-enolasa muscular es un trastorno de la glucólisis, descrito en un solo paciente hasta la fecha, que se caracteriza clínicamente por intolerancia al ejercicio y mialgia debida a un déficit grave de enolasa en el músculo.","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de beta-enolasa muscular","Spanish_GARD_Synonym__c":"deficiencia de enolasa del músculo; deficiencia de enolasa muscular; glucogenosis por deficiencia de beta-enolasa muscular; glucogenosis tipo 13; gsd por deficiencia de beta-enolasa muscular; gsdxiii","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":"Glycogen storage disease due to muscle beta-enolase deficiency (GSDXIII) is an inherited disease of the muscles. The muscles of an affected individual are not able to produce enough energy to function properly, causing muscle weakness and pain. GSDXIII is caused by changes in the ENO3 gene and is inherited in an autosomal recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0002125","GARD_Synonym__c":"enolase 3 deficiency; enolase-beta deficiency; glycogen storage disease type 13; glycogen storage disease type xiii; glycogenosis due to muscle beta-enolase deficiency; glycogenosis type 13; gsd due to muscle beta-enolase deficiency; gsd xiii; gsd13; gsdxiii; muscle enolase deficiency; muscular enolase deficiency","Name":"Glycogen storage disease due to muscle beta-enolase deficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"},{"Account_Name__c":"International Association for Muscle Glycogen Storage Disease","Website__c":"https://www.iamgsd.org/"},{"Account_Name__c":"Canadian Association for Glycogen Storage Disease","Website__c":"https://www.canadianagsd.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99849"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2752027"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002125","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/612932","Source__c":"C2752027; MONDO:0013046; ORPHA:99849","Xref__c":"OMIM:612932"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=442873","Source__c":"C2752027","Xref__c":"MEDGEN:442873"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567861","Source__c":"MONDO:0013046","Xref__c":"C567861"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2752027","Source__c":"C2752027","Xref__c":"C2752027"},{"URL__c":"https://www.orpha.net/en/disease/detail/99849","Source__c":"C2752027; MONDO:0013046","Xref__c":"ORPHA:99849"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013046","Source__c":"GARD:0002125","Xref__c":"MONDO:0013046"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ENO3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612932","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"}},{"Provided_By__c":"OMIM:612932","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034633","HPO_Synonym__c":"Muscle biopsy: beta-enolase activity low","HPO_Name__c":"Reduced muscle enolase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612932","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"}},{"Provided_By__c":"OMIM:612932","Feature__r":{"HPO_Description__c":"An increased amount of glycogen in muscle tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009051","HPO_Name__c":"Increased muscle glycogen content","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612932","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","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"]},"synonyms":["enolase 3 deficiency"," enolase-beta deficiency"," glycogen storage disease type 13"," glycogen storage disease type xiii"," glycogenosis due to muscle beta-enolase deficiency"," glycogenosis type 13"," gsd due to muscle beta-enolase deficiency"," gsd xiii"," gsd13"," gsdxiii"," muscle enolase deficiency"," muscular enolase deficiency"]}