{"Name":"Glycogen storage disease, type VII","DiseaseID__c":"GARD:0005686","id":5686,"encodedName":"glycogen-storage-disease-type-vii","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease, type VII","Xref_IDs__c":"89597008; C0017926; C118437; D006014; DOID:11721; MEDGEN:5342; MONDO:0009295; OMIM:232800; ORPHA:371","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":4,"Description_Source__c":"MONDO:0009295","Disease_Description__c":"Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.","GARD_Name__c":"Glycogen storage disease, type VII","GARD_Synonym__c":"glycogen storage disease caused by mutation in pfkm; glycogen storage disease due to muscle phosphofructokinase deficiency; glycogen storage disease type 7; glycogen storage disease type vii; glycogen storage disease vii; glycogen storage disease, type 7; glycogenosis due to muscle phosphofructokinase deficiency; glycogenosis type 7; glycogenosis type vii; gsd due to muscle phosphofructokinase deficiency; gsd type 7; gsd type vii; gsd vii; gsd7; gsdvii; muscle phosphofructokinase deficiency; pfkm deficiency; pfkm glycogen storage disease; phosphofructokinase deficiency; phosphofructokinase myopathy; tarui disease; tarui's disease","Curated_Disease_Description_Source__c":"GARD:0005686","Curated_Disease_Description__c":"Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:371","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009295","ORPHANET_ID__c":"ORPHA:371","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de almacenamiento de glucógeno por deficiencia de fosfofructoquinasa muscular","Spanish_Description_Source__c":"ORPHA:371","Spanish_Description__c":"La deficiencia de fosfofructocinasa muscular (PFK) (enfermedad de Tauri), o enfermedad de almacenamiento de glucógeno de tipo 7 (GSD7), es una forma rara de enfermedad de almacenamiento de glucógeno caracterizada por fatiga por esfuerzo e intolerancia al ejercicio muscular. Se produce durante la infancia.","Spanish_Disease_Name__c":"enfermedad de almacenamiento de glucógeno por deficiencia de fosfofructoquinasa muscular","Spanish_GARD_Synonym__c":"enfermedad de almacenamiento de glucógeno tipo 7; enfermedad de almacenamiento de glucógeno tipo vii; enfermedad de tarui; glucogenosis por deficiencia de fosfofructoquinasa muscular; glucogenosis tipo 7; glucogenosis tipo vii; gsd por deficiencia de fosfofructoquinasa muscular; gsd tipo 7; gsd tipo vii","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 type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.","Curated_Disease_Description_Source__c":"GARD:0005686","GARD_Synonym__c":"glycogen storage disease caused by mutation in pfkm; glycogen storage disease due to muscle phosphofructokinase deficiency; glycogen storage disease type 7; glycogen storage disease type vii; glycogen storage disease vii; glycogen storage disease, type 7; glycogenosis due to muscle phosphofructokinase deficiency; glycogenosis type 7; glycogenosis type vii; gsd due to muscle phosphofructokinase deficiency; gsd type 7; gsd type vii; gsd vii; gsd7; gsdvii; muscle phosphofructokinase deficiency; pfkm deficiency; pfkm glycogen storage disease; phosphofructokinase deficiency; phosphofructokinase myopathy; tarui disease; tarui's disease","Name":"Glycogen storage disease, type VII","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"},{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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:371"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:371"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:371"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:371"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0017926"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005686","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5342","Source__c":"C0017926","Xref__c":"MEDGEN:5342"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11721","Source__c":"MONDO:0009295","Xref__c":"DOID:11721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006014","Source__c":"C0017926; MONDO:0009295","Xref__c":"D006014"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=89597008","Source__c":"C0017926; MONDO:0009295","Xref__c":"89597008"},{"URL__c":"https://www.orpha.net/en/disease/detail/371","Source__c":"C0017926; MONDO:0009295; ORPHA:371","Xref__c":"ORPHA:371"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0017926","Source__c":"C0017926","Xref__c":"C0017926"},{"URL__c":"https://www.omim.org/entry/232800","Source__c":"C0017926; MONDO:0009295; ORPHA:371","Xref__c":"OMIM:232800"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C118437","Source__c":"C0017926; MONDO:0009295","Xref__c":"C118437"},{"URL__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii","Source__c":"GARD:0005686","Xref__c":"https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009295","Source__c":"GARD:0005686","Xref__c":"MONDO:0009295"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PFKM","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pfkm","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:371","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002486","HPO_Synonym__c":"Delayed relaxation of muscle fibers after contraction","HPO_Name__c":"Myotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:371","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:371","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:371","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:371","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:371","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Hematology","Neuromuscular medicine","Pediatrics"]},"synonyms":["glycogen storage disease caused by mutation in pfkm"," glycogen storage disease due to muscle phosphofructokinase deficiency"," glycogen storage disease type 7"," glycogen storage disease type vii"," glycogen storage disease vii"," glycogen storage disease, type 7"," glycogenosis due to muscle phosphofructokinase deficiency"," glycogenosis type 7"," glycogenosis type vii"," gsd due to muscle phosphofructokinase deficiency"," gsd type 7"," gsd type vii"," gsd vii"," gsd7"," gsdvii"," muscle phosphofructokinase deficiency"," pfkm deficiency"," pfkm glycogen storage disease"," phosphofructokinase deficiency"," phosphofructokinase myopathy"," tarui disease"," tarui's disease"]}