Emphysema Due to Aat Deficiency malady
Categories: Genetic diseases (common), Respiratory diseases, Liver diseases, Blood diseases
Aliases & Descriptions for Emphysema Due to Aat Deficiency:
emphysema due to aat deficiency:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases (common)
Anatomical: Respiratory diseases, Liver diseases, Blood diseases
OMIM:49 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...
MalaCards based summary: Emphysema Due to Aat Deficiency, also known as alpha-1-antitrypsin deficiency, is related to alpha 1-antitrypsin deficiency and pneumothorax, primary spontaneous, and has symptoms including hepatic failure, emphysema and hepatomegaly. An important gene associated with Emphysema Due to Aat Deficiency is SERPINA1 (Serpin Family A Member 1). The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include lung, liver and testes.
UniProtKB/Swiss-Prot:67 Alpha-1-antitrypsin deficiency: A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.
HPO human phenotypes related to Emphysema Due to Aat Deficiency:(show all 8)
Drugs for Emphysema Due to Aat Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:(show all 17)
Search NIH Clinical Center for Emphysema Due to Aat Deficiency
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:33
Lung, Liver, Testes, Skeletal muscle, B cells
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Emphysema Due to Aat Deficiency:
Clinvar genetic disease variations for Emphysema Due to Aat Deficiency:5 (show all 30)
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 32
Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet