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":7,"sourceGroups":{"omim":0,"orphanet":7,"published":0}},"features":[{"hpoId":"HP:0008331","label":"Elevated creatine kinase after exercise","primary":false},{"hpoId":"HP:0009020","label":"Exercise-induced muscle fatigue","primary":false},{"hpoId":"HP:0003738","label":"Exercise-induced myalgia","primary":false},{"hpoId":"HP:0002151","label":"Increased circulating lactate concentration","primary":false},{"hpoId":"HP:0003690","label":"Limb muscle weakness","primary":false},{"hpoId":"HP:0003394","label":"Muscle spasm","primary":false},{"hpoId":"HP:0003326","label":"Myalgia","primary":false}],"ledeHtml":"Adenosine monophosphate (AMP) deaminase deficiency is a condition that can affect the muscles used for movement (skeletal muscles). In many affected individuals, AMP deaminase deficiency does not cause any symptoms. People who do experience symptoms typically have fatigue, muscle pain (myalgia), or cramps after exercise or prolonged physical activity (exercise intolerance). Following strenuous activity, they often get tired more quickly and stay tired longer than would normally be expected. In rare cases, affected individuals have more severe symptoms including severe muscle weakness, low muscle tone (hypotonia), and muscle wasting (atrophy), but it is unclear whether these symptoms are due solely to AMP deaminase deficiency or additional health conditions. Exercise intolerance associated with AMP deaminase deficiency usually becomes apparent in childhood or early adulthood.","mondoId":"MONDO:0013028","records":[{"frequencyKind":"range","key":"17eaf499a63895a8e93730079e8ac6b5886cdd56c2ef768e16c453d6c3b7e900","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003738","is_excluded":false,"label":"Exercise-induced myalgia","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1e930909b1409e3e384bb99e647fb7f5491800b20febd226902326422885414f","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003394","is_excluded":false,"label":"Muscle spasm","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7e850b3125b504206129e8b09bd5c1e93bea60d9bef13095c75dd2aecf3a1523","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003690","is_excluded":false,"label":"Limb muscle weakness","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bdd0be63d755d2ee46006b7d69ece93f98e6eec0e6d2162030fec9341a59e705","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002151","is_excluded":true,"label":"Increased circulating lactate concentration","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d14cf568087d6f1638d3692f8f02be6decff8a3fb162385d556012ac3cce8484","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008331","is_excluded":true,"label":"Elevated creatine kinase after exercise","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee75f82a82b3d0e297c1e4a68889c4d093fded6857c0786ba6d3e2ec7fd745f4","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0003326","is_excluded":false,"label":"Myalgia","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ff9fa075dae3eb7207552aa8aec1f32ec33d5b28f23e21504bf306973fcc1c9c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:45","disease_name":"Adenosine monophosphate deaminase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009020","is_excluded":false,"label":"Exercise-induced muscle fatigue","onset_id":null,"reference":"ORPHA:45","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"AMP deaminase deficiency is caused by mutations in the AMPD1 gene, which provides instructions for producing an enzyme called AMP deaminase. This enzyme is found in skeletal muscles, where it plays a role in producing energy. Skeletal muscle cells need energy to function and move the body.
Mutations in the AMPD1 gene often result in an AMP deaminase enzyme that cannot function and as a result, energy production in skeletal muscle cells is decreased. Skeletal muscles are particularly sensitive to decreases in energy during periods of exercise or increased activity when energy demands increase. The lack of AMP deaminase activity can result in fatigue, muscle weakness or pain, or other muscle problems in some people with AMP deaminase deficiency.
It is not known why some people with this condition do not experience symptoms. Researchers speculate that additional factors, both genetic and environmental, may determine whether a person develops the signs and symptoms of AMP deaminase deficiency.
","key":"forms","title":"What causes Adenosine monophosphate deaminase deficiency?"},{"bodyHtml":"Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"adenosine-monophosphate-deaminase-deficiency","sourceDocuments":[{"name":"Adenosine monophosphate deaminase deficiency","reviewed":"2008-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:08.259565+00:00","label":"Causes","pageSha256":"9a320942c3c3732d73cbcc13ef54ac57ed3fe150b01e102d2b78d710a6926fd8","sourceUrl":"https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/adenosine-monophosphate-deaminase-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":"Adenosine monophosphate deaminase deficiency"},"schemaVersion":1}