Emphysema Due to Aat Deficiency malady
Categories: Genetic diseases, Rare diseases, Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Blood diseases
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Aliases & Descriptions for Emphysema Due to Aat Deficiency:
Orphanet epidemiological data:52
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: 29 28
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism
NIH Rare Diseases:46 Alpha-1 antitrypsin deficiency (aatd) is a disorder that causes a deficiency or absence of the alpha-1 antitrypsin (aat) protein in the blood. aat is made in the liver and sent through the bloodstream to the lungs, to protect the lungs from damage. having low levels of att (or no att) can allow the lungs to become damaged, making breathing hard. age of onset and severity of aatd can vary based on how much att an affected person is missing. in adults, symptoms may include shortness of breath; reduced ability to exercise; wheezing; respiratory infections; fatigue; vision problems; and weight loss. some people have chronic obstructive pulmonary disease (copd) or asthma. liver disease (cirrhosis) may occur in affected children or adults. rarely, aatd can cause a skin condition called panniculitis. aatd is caused by mutations in the serpina1 gene and is inherited in a codominant manner. treatment is based on each person's symptoms and may include bronchodilators; antibiotics for upper respiratory tract infections; intravenous therapy of aat; and/or lung transplantation in severe cases. last updated: 4/6/2016
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 acquired amegakaryocytic thrombocytopenia, 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 Cell adhesion_Cell-matrix glycoconjugates and Matrix Metalloproteinases. The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include lung, liver 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.
UniProtKB/Swiss-Prot:68 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.
MedlinePlus:36 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
Genetics Home Reference:24 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:50 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...
GeneReviews summary for NBK1519
HPO human phenotypes related to Emphysema Due to Aat Deficiency:(show all 10)
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 all 34)
Interventional clinical trials:(show top 50) (show all 84)
Search NIH Clinical Center for Emphysema Due to Aat Deficiency
Inferred drug relations via UMLS66/NDF-RT44:
MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:34
Lung, Liver, Testes, Heart, Skin, 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 26)
Genes differentially expressed in tissues of Emphysema Due to Aat Deficiency patients vs. healthy controls: 33
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:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet