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alpha-1-Antitrypsin Deficiency, Autosomal Recessive MeSH Supplementary Concept Data 2025


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 Numbers
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 Preferred
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