Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":8,"sourceGroups":{"omim":8,"orphanet":0,"published":0}},"features":[{"hpoId":"HP:0003236","label":"Elevated circulating creatine kinase activity","primary":false},{"hpoId":"HP:0003546","label":"Exercise intolerance","primary":false},{"hpoId":"HP:0003710","label":"Exercise-induced muscle cramps","primary":false},{"hpoId":"HP:0003738","label":"Exercise-induced myalgia","primary":false},{"hpoId":"HP:0002913","label":"Myoglobinuria","primary":false},{"hpoId":"HP:0003198","label":"Myopathy","primary":false},{"hpoId":"HP:0000083","label":"Renal insufficiency","primary":false},{"hpoId":"HP:0003201","label":"Rhabdomyolysis","primary":false}],"ledeHtml":"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.","mondoId":"MONDO:0009865","records":[{"frequencyKind":"reported","key":"0c8e305a99e1f826cbdcfe7b1fbfae26ffde5b866413fc7391321b5228f23a22","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003710","is_excluded":false,"label":"Exercise-induced muscle cramps","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2c851d31c8d4cfd0bc5a34a4b233df82238925b98e1f00a4360de5d90740150a","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000083","is_excluded":false,"label":"Renal insufficiency","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6831dfee7f250e051de0029376d715da6ca0573faf6fccdf3edf518d3c37009c","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003546","is_excluded":false,"label":"Exercise intolerance","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"76ebabc837c76eddfc2e6cd39440b84d0a50b8c6566b342c70cc2cc2433b7946","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003236","is_excluded":false,"label":"Elevated circulating creatine kinase activity","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8782a73d00cdbed304edcf4be7036ed5154a8f8b842ed7a655bf7b93bdab5107","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003201","is_excluded":false,"label":"Rhabdomyolysis","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8c444aa75e3a529a1928959f1bd656305e03fd93200c4ff4f4796a8bd0ee9bdd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003198","is_excluded":false,"label":"Myopathy","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d58ff9f06910bd183d5d35848692d387ee5f000b41d9f94cd5a46e12c78d7903","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002913","is_excluded":false,"label":"Myoglobinuria","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ef2ed64b4bf1d01f32d1308284955dac7ea3b636e2fc9d8f68f7ede50bea12bb","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:261670","disease_name":"Phosphoglycerate mutase, muscle, deficiency of","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003738","is_excluded":false,"label":"Exercise-induced myalgia","onset_id":null,"reference":"OMIM:261670","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Phosphoglycerate mutase deficiency is caused by mutations in the PGAM2 gene. This gene provides instructions for making an enzyme called phosphoglycerate mutase, which is involved in a critical energy-producing process in cells known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce energy.
The version of phosphoglycerate mutase produced from the PGAM2 gene is found primarily in skeletal muscle cells. Mutations in the PGAM2 gene greatly reduce the activity of phosphoglycerate mutase, which disrupts energy production in these cells. This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals.
","key":"forms","title":"What causes Phosphoglycerate mutase deficiency?"},{"bodyHtml":"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.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"phosphoglycerate-mutase-deficiency","sourceDocuments":[{"name":"Phosphoglycerate mutase deficiency","reviewed":"2011-12","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:13.079471+00:00","label":"Causes","pageSha256":"f3e8f57c4ffffb2f6fef7097237e5d6b1ffdc051b7f2ebb5679a0a4fe96dabcc","sourceUrl":"https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/phosphoglycerate-mutase-deficiency"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Phosphoglycerate mutase deficiency"},"schemaVersion":1}