MeSH Browser

MeSH Supplementary: alpha-1-Antitrypsin Deficiency, Autosomal Recessive
Unique ID: C566273
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C566273
Entry Term(s): Alpha-1 Protease Inhibitor Deficiency; Alpha-1 Related Emphysema; Genetic Emphysema; Hereditary Pulmonary Emphysema; Inherited Emphysema
Registry Number: 0
Heading Mapped to: *alpha 1-Antitrypsin Deficiency
Frequency: 130
Note: A heriditary autosomal recessive disorder characterized by early-onset EMPHYSEMA, which becomes evident during young adulthood; TOBACCO SMOKING greatly increases the risk for emphysema at an earlier age. LIVER CIRRHOSIS and LIVER FAILURE may also occur in younger patients, but are less common. Mutations in the SERPINA1 gene have been identified. OMIM: 613490
Date of Entry: 2012/11/05
Revision Date: 2018/06/13

alpha-1-Antitrypsin Deficiency, Autosomal Recessive MeSH Supplementary Concept Data 2024