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deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0000952","is_excluded":false,"label":"Jaundice","onset_id":null,"reference":"ORPHA:60","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ffc1e7a88a733cbcb84ab6135e3d0f22897e95bf1f8e0bc4153393280d037616","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:60","disease_name":"Alpha-1-antitrypsin deficiency","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012387","is_excluded":false,"label":"Bronchitis","onset_id":null,"reference":"ORPHA:60","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency\">Alpha-1 antitrypsin deficiency</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also known as mutations) in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin.</p><p>Variants in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ.</p><p>Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Alpha-1 antitrypsin deficiency?"},{"bodyHtml":"<p>People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 25 and 50. The earliest symptoms are shortness of breath following mild activity, reduced ability to exercise, and wheezing. Other signs and symptoms can include unintentional weight loss, recurring respiratory infections, and fatigue. Affected individuals often develop emphysema, which is a lung disease caused by damage to the small air sacs in the lungs (alveoli). Characteristic features of emphysema include difficulty breathing, a hacking cough, and a barrel-shaped chest. Smoking or exposure to tobacco smoke accelerates the appearance of emphysema symptoms and damage to the lungs.</p><p>About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver disease, which often causes yellowing of the skin and whites of the eyes (jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin deficiency develop liver damage (cirrhosis) due to the formation of scar tissue in the liver. Signs of cirrhosis include a swollen abdomen and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at risk of developing a type of liver cancer called hepatocellular carcinoma.</p><p>In rare cases, people with alpha-1 antitrypsin deficiency develop a skin condition called panniculitis, which is characterized by hardened skin with painful lumps or patches. Panniculitis varies in severity and can occur at any age.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"alpha-1-antitrypsin-deficiency","sourceDocuments":[{"name":"Alpha-1 antitrypsin deficiency","reviewed":"2009-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:16.646233+00:00","label":"Causes","pageSha256":"acddb36ed696a7bcd47f9bb3a6666c1179cd37fd91764f7b31f8eada0478370a","sourceUrl":"https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-deficiency/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/alpha-1-antitrypsin-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":"Alpha-1 antitrypsin deficiency"},"schemaVersion":1}