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":10,"sourceGroups":{"omim":0,"orphanet":9,"published":1}},"features":[{"hpoId":"HP:0012379","label":"Abnormal circulating enzyme concentration or activity","primary":false},{"hpoId":"HP:0001392","label":"Abnormality of the liver","primary":false},{"hpoId":"HP:0002104","label":"Apnea","primary":false},{"hpoId":"HP:0031035","label":"Chronic infection","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0001658","label":"Myocardial infarction","primary":false},{"hpoId":"HP:0002664","label":"Neoplasm","primary":false},{"hpoId":"HP:0003470","label":"Paralysis","primary":false},{"hpoId":"HP:0002878","label":"Respiratory failure","primary":false},{"hpoId":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","primary":false}],"ledeHtml":"Pseudocholinesterase deficiency, also called butyrylcholinesterase deficiency, is a condition that is characterized by an increased sensitivity to certain substances, including the medications succinylcholine and mivacurium. These medications may be given during general anesthesia. General anesthesia is typically used during major surgeries and causes a brief period of unconsciousness. Succinylcholine and mivacurium relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing.","mondoId":"MONDO:0015270","records":[{"frequencyKind":"range","key":"564895b29cba344578fb406d5a04e7b831344dae94c07908c555b16877d907ec","raw":{"aspect":"P","body_system":"digestive","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001392","is_excluded":false,"label":"Abnormality of the liver","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"797f3da308ce2e4983546a029f95304a05f52dfda97707b8fe1c24aa51d2aa40","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012379","is_excluded":false,"label":"Abnormal circulating enzyme concentration or activity","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bf1f4d12d3eb2b61e6856f6262583f1d20cb8ed3da16a877175901d7703c4568","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002878","is_excluded":false,"label":"Respiratory failure","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c98351fb20c1b8cbc466b0d945753e93f8e39ae327766c802cbceaf2e3aca944","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:617936","disease_name":"Butyrylcholinesterase deficiency","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002104","is_excluded":false,"label":"Apnea","onset_id":null,"reference":"PMID:21637541","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d0ee19d380644e70e71b49f56196e5fa93cff6668745e50ade267ca96c03a92e","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002664","is_excluded":false,"label":"Neoplasm","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d2198d5e1a189d254a76fadc9c7978508eb1ed08010f2727a50982917e094cde","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001658","is_excluded":false,"label":"Myocardial infarction","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d43bd8e1f903db0af9481c387b928577cbd5d189ea1e52a4925f72e12ba2c067","raw":{"aspect":"P","body_system":"immune","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0031035","is_excluded":false,"label":"Chronic infection","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d4715d51326746bc814f6290ade50a3f1399ba2685ac4597db5750cc92c949ab","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"eae826de3ecdae771874e198f30b187a07a41b32d72696126ca5cb7887922767","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0004887","is_excluded":false,"label":"Respiratory failure requiring assisted ventilation","onset_id":null,"reference":"ORPHA:132","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f0c8013cf0ff6becc68a0973c4ea11ad46aa1fa72f05ac29373d7f1f414c6b39","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:132","disease_name":"Hereditary butyrylcholinesterase deficiency","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0003470","is_excluded":false,"label":"Paralysis","onset_id":null,"reference":"ORPHA:132","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":"Variants (also called mutations) in the BCHE gene can cause pseudocholinesterase deficiency. This gene provides instructions for making an enzyme called pseudocholinesterase, also known as butyrylcholinesterase. This enzyme is produced by the liver and circulates in the blood. Pseudocholinesterase is involved in the metabolism of succinylcholine and mivacurium. This enzyme also helps break down other substances, including some local anesthetics and agricultural pesticides.
Some of the gene variants that are associated with pseudocholinesterase deficiency cause cells to produce a version of the enzyme that does not function properly. Other variants prevent the production of any pseudocholinesterase. A lack of functional pseudocholinesterase impairs the body's ability to metabolize certain substances, including the medications succinylcholine and mivacurium. This causes the effects of these substances to last longer than usual.
Some cases of pseudocholinesterase deficiency are not caused by variants in the BCHE gene and are not inherited. In these cases, the condition is acquired and the enzyme's activity is affected by nongenetic factors instead. These factors can include pregnancy; increased age; chronic infections; kidney, liver, or heart disease; malnutrition; major burns; cancer; and certain prescription medications.
","key":"forms","title":"What causes Pseudocholinesterase deficiency?"},{"bodyHtml":"Succinylcholine and mivacurium are typically broken down (metabolized) by the body within a few minutes of being administered. However, people with pseudocholinesterase deficiency do not metabolize these medications as quickly, so they remain active longer than usual. As a result, people with pseudocholinesterase deficiency may not be able to move or breathe on their own for a few hours after succinylcholine and mivacurium are administered. Affected individuals must be supported with a machine to help them breathe (mechanical ventilation) until the medications are cleared from the body.
People with pseudocholinesterase deficiency may also have an increased sensitivity to other substances, including cocaine and the local anesthetic procaine. Local anesthetics are used to numb a small area of the body. Affected individuals may also be more sensitive to specific agricultural pesticides.
Because affected individuals typically have no other signs or symptoms, pseudocholinesterase deficiency is usually not discovered until a person has an abnormal reaction to one of these substances.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"pseudocholinesterase-deficiency","sourceDocuments":[{"name":"Pseudocholinesterase deficiency","reviewed":"2025-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:32.381762+00:00","label":"Causes","pageSha256":"0d89b1537576073b19c9080b78831ac375a705b2afe164251651e246e4593535","sourceUrl":"https://medlineplus.gov/genetics/condition/pseudocholinesterase-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pseudocholinesterase-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":"Pseudocholinesterase deficiency"},"schemaVersion":1}