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AAT
MCID: ALP007
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Alpha 1-antitrypsin Deficiency malady |
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15 drugs, 60 genes, 11 tissues, 819 related diseases, 11 phenotypes, 199 articles, clinical trials, genetic tests.
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 23MedlinePlus, 15GeneReviews, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
MedlinePlus: Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. alpha-1 antitrypsin (aat) is a protein that protects the lungs. the liver usually makes the protein, and releases it into the bloodstream. because of a gene problem, some people have little or none of it. not having enough aat puts you at risk of emphysema or liver problems. if you smoke, you increase your risk. children with aat deficiency can develop liver problems that last their whole lives.
aat deficiency can be treated but not cured. one treatment involves adding to or replacing the missing protein. a lung transplant may be an option if you are seriously ill. staying away from cigarette smoke is crucial.
a blood test can tell if you have the deficiency. if you have it, your family members should also take the blood test.23
MalaCards: Alpha 1-antitrypsin Deficiency, also known as inherited emphysema, is related to hepatitis and panniculitis. An important gene associated with Alpha 1-antitrypsin Deficiency is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1), and among its related pathways are Bacterial infections in CF airways and Immune response Oncostatin M signaling via JAK-Stat in human cells. The drugs epinephrine hydrochloride and calcium gluconate and the compounds aprotinin and endotoxin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and colon, and related mouse phenotypes are hematopoietic system and respiratory system. Disease Ontology: 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.6 NIH Rare Diseases: Alpha 1-antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a mutation in the SERPINA1 gene, some people have little or no AAT. Not having enough AAT may lead to emphysema or liver problems. Smoking increases the risk. A deficiency of AAT can be treated but not cured. One treatment involves adding to or replacing the missing protein. More severe cases may require a lung transplant. This condition is caused by mutations in the SERPINA1 gene and inherited in an autosomal co-dominant fashion.30 Genetics Home Reference: 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.17 Wikipedia: Alpha 1-antitrypsin deficiency (α1-antitrypsin deficiency, A1AD) is a genetic disorder that causes...44 more... GeneReviews summary for alpha1-a |
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Sources: 6Disease Ontology, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 23MedlinePlus, 43UMLS, 40SNOMED-CT, 27NCIt, 33OMIM, 24MeSH, 19ICD9CM See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for alpha 1-antitrypsin deficiency Drug clinical trials:Search ClinicalTrials for alpha 1-antitrypsin deficiency Search NIH Clinical Center for alpha 1-antitrypsin deficiency Search CenterWatch for alpha 1-antitrypsin deficiency Inferred drug relations via UMLS/NDF-RT:43 28 alpha-1-proteinase inhibitor,human, atropine, atropine methylnitrate, atropine sulfate, calcium chloride, calcium gluceptate, calcium gluconate, calcium gluconate pwdr [va product], epinephrine, epinephrine bitartrate, epinephrine hydrochloride, epinephrine,racemic hydrochloride, epinephryl borate, sodium bicarbonate, sodium bicarbonate pwdr [va product] |
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Sources: 16GeneTests See all sources |
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Sources: 21LifeMap Discovery™, 22MalaCards See all sources |
MalaCards organs/tissues related to alpha 1-antitrypsin deficiency:22Whole blood, Heart, Colon, Liver, Lung, Skin, Monocytes, B cells, Endothelial, Bronchial epithelium  The database of embryonic development, stem cell research and regenerative medicine Embryonic and adult cells/anatomical compartments related to alpha 1-antitrypsin deficiency:
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Liver -> Liver Lobule -> |
Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to alpha 1-antitrypsin deficiency:25 (show all 11)
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Sources: 35PubMed See all sources |
Articles related to alpha 1-antitrypsin deficiency:(show top 50) (show all 199)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore, 37R&D Systems, 20KEGG, 36QIAGEN See all sources |
Pathways related to alpha 1-antitrypsin deficiency according to GeneDecks:(show all 40)
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Sources: 32Novoseek , 9DrugBank, 18HMDB, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to alpha 1-antitrypsin deficiency according to GeneDecks:(show top 50) (show all 306)
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Sources: 12Gene Ontology See all sources |
Cellular components related to alpha 1-antitrypsin deficiency according to GeneDecks:
Biological processes related to alpha 1-antitrypsin deficiency according to GeneDecks:(show all 23)
Molecular functions related to alpha 1-antitrypsin deficiency according to GeneDecks:
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