Alpha 1-Antitrypsin Deficiency malady
Categories: Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Respiratory diseases, Metabolic diseases
32LifeMap Discovery®, 10Disease Ontology, 68Wikipedia, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 21GeneReviews, 45NIH Rare Diseases, 11diseasecard, 23Genetics Home Reference, 35MedlinePlus, 22GeneTests, 51Orphanet, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
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Aliases & Descriptions for Alpha 1-Antitrypsin Deficiency:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Liver diseases, Nephrological diseases, Respiratory diseases
ICD10: 28 27
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism
NIH Rare Diseases:45 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: Alpha 1-Antitrypsin Deficiency, also known as alpha-1 antitrypsin deficiency, is related to panniculitis and liver disease, and has symptoms including hepatocellular liver disease/hepatic failure, emphysema and autosomal recessive inheritance. An important gene associated with Alpha 1-Antitrypsin Deficiency is SERPINA1 (Serpin Family A Member 1), and among its related pathways is Cell adhesion_Cell-matrix glycoconjugates. 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:10 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:23 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.
MedlinePlus:35 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
Wikipedia:68 Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes... more...
GeneReviews summary for NBK1519
UMLS symptoms related to Alpha 1-Antitrypsin Deficiency:snoring, hepatomegaly, hemoptysis, coughing
FDA approved drugs:
Drugs for Alpha 1-Antitrypsin Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 108)
Interventional clinical trials:(show top 50) (show all 77)
Search NIH Clinical Center for Alpha 1-Antitrypsin Deficiency
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Alpha 1-Antitrypsin Deficiency:33
Lung, Liver, Testes, Heart, Skin, Neutrophil, Breast
Articles related to Alpha 1-Antitrypsin Deficiency:(show top 50) (show all 193)
Search GEO for disease gene expression data for Alpha 1-Antitrypsin Deficiency.
Biological processes related to Alpha 1-Antitrypsin Deficiency according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet