Emphysema Due to Aat Deficiency malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Blood diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 34LifeMap Discovery®, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Emphysema Due to Aat Deficiency:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Ireland),1-5/10000 (Europe),1-5/10000 (Germany),1-5/10000 (United States),6-9/10000 (Sweden); Age of onset: All ages
emphysema due to aat deficiency:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Respiratory diseases, Liver diseases, Nephrological diseases, Blood diseases
ICD10: 30 29
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism
MedlinePlus:37 Alpha-1 antitrypsin deficiency (aat deficiency) is an inherited condition that raises your risk for lung and liver disease. alpha-1 antitrypsin (aat) is a protein that protects the lungs. the liver makes it. if the aat proteins aren't the right shape, they get stuck in the liver cells and can't reach the lungs. symptoms of aat deficiency include shortness of breath and wheezing repeated lung infections tiredness rapid heartbeat upon standing vision problems weight loss some people have no symptoms and do not develop complications. blood tests and genetic tests can tell if you have it. if your lungs are affected, you may also have lung tests. treatments include medicines, pulmonary rehab, and extra oxygen, if needed. severe cases may need a lung transplant. not smoking can prevent or delay lung symptoms. nih: national heart, lung, and blood institute
MalaCards based summary: Emphysema Due to Aat Deficiency, also known as alpha 1-antitrypsin deficiency, is related to hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 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), and among its related pathways are Matrix Metalloproteinases and Cell adhesion_Cell-matrix glycoconjugates. The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include liver, lung and testes.
Disease Ontology:11 A plasma protein metabolism disease that has material basis in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Genetics Home Reference:25 Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals.
OMIM:51 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...
UniProtKB/Swiss-Prot:69 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.
Wikipedia:70 Alpha-1 antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...
GeneReviews for NBK1519
Human phenotypes related to Emphysema Due to Aat Deficiency:63 53 (show all 11)
UMLS symptoms related to Emphysema Due to Aat Deficiency:coughing, hemoptysis, hepatomegaly, snoring
Drugs for Emphysema Due to Aat Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 116)
Interventional clinical trials:(show top 50) (show all 87)
Search NIH Clinical Center for Emphysema Due to Aat Deficiency
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:35
Liver, Lung, Testes, Heart, Skeletal muscle
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 35)
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 34
Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.
Pathways related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:
Cellular components related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:
Biological processes related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:
Molecular functions related to Emphysema Due to Aat Deficiency according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet