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syndrome","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002072","is_excluded":false,"label":"Chorea","onset_id":null,"reference":"ORPHA:464343","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome\">Antiphospholipid syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The genetic cause of antiphospholipid syndrome is unknown. This condition results from the presence of three abnormal immune proteins (antibodies) in the blood. The antibodies that cause antiphospholipid syndrome are called lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. These antibodies are referred to as antiphospholipid antibodies. People with this condition can test positive for one, two, or all three antiphospholipid antibodies in their blood. Antibodies normally attach (bind) to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. When these antibodies attach to proteins, the proteins change shape and attach to other molecules and receptors on the surface of cells. Attaching to cells, particularly immune cells, turns on (activates) the blood clotting pathway and other immune responses.</p><p>The production of the antiphospholipid antibodies may coincide with exposure to foreign invaders, such as viruses and bacteria, that are similar to normal human proteins. Exposure to these foreign invaders may cause the body to produce antibodies to fight the infection, but because the invaders are so similar to the body&#x27;s own proteins, the antibodies also attack the human proteins. Similar triggers may occur during pregnancy when a woman&#x27;s physiology, particularly her immune system, adapts to accommodate the developing fetus. These changes during pregnancy may explain the high rate of affected females.</p><p>Certain genetic variations (polymorphisms) in a few genes have been found in people with antiphospholipid syndrome and may predispose individuals to produce the specific antibodies known to contribute to the formation of thromboses. However, the contribution of these genetic changes to the development of the condition is unclear.</p><p>People who repeatedly test positive for any of the antiphospholipid antibodies but have not had a thrombosis or recurrent miscarriages are said to be antiphospholipid carriers. These individuals are at greater risk of developing a thrombosis than is the general population. The risk is especially high in people who test positive for all three antiphospholipid antibodies (triple-positive).</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Antiphospholipid syndrome?"},{"bodyHtml":"<p>Women with antiphospholipid syndrome are at increased risk of complications during pregnancy. These complications include pregnancy-induced high blood pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), early delivery, or pregnancy loss (miscarriage). In addition, women with antiphospholipid syndrome are at greater risk of having a thrombosis during pregnancy than at other times during their lives. At birth, infants of mothers with antiphospholipid syndrome may be small and underweight.</p><p>A thrombosis or pregnancy complication is typically the first sign of antiphospholipid syndrome. This condition usually appears in early to mid-adulthood but can begin at any age.</p><p>Other signs and symptoms of antiphospholipid syndrome that affect blood cells and vessels include a reduced amount of cells involved in blood clotting called platelets (thrombocytopenia), a shortage of red blood cells (anemia) due to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may have open sores (ulcers) on the skin, migraine headaches, or heart disease. Many people with antiphospholipid syndrome also have other autoimmune disorders such as systemic lupus erythematosus.</p><p>Rarely, people with antiphospholipid syndrome develop thromboses in multiple blood vessels throughout their body. These thromboses block blood flow in affected organs, which impairs their function and ultimately causes organ failure. These individuals are said to have catastrophic antiphospholipid syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and liver, and is fatal in over half of affected individuals. Less than 1 percent of individuals with antiphospholipid syndrome develop CAPS.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"antiphospholipid-syndrome","sourceDocuments":[{"name":"Antiphospholipid syndrome","reviewed":"2013-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:26.754480+00:00","label":"Causes","pageSha256":"f0f6724ac7316d5e67cee0147df7ed60d1b440b15fd828c44afb673d00f22e74","sourceUrl":"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome"}],"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":"Antiphospholipid syndrome"},"schemaVersion":1}