Emphysema Due to Aat Deficiency malady
Genetic diseases, Rare diseases, Respiratory diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Blood diseases categories
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Aliases & Descriptions for Emphysema Due to Aat Deficiency:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Respiratory diseases, Liver diseases, Nephrological diseases, Blood diseases
ICD10: 26 25
Rare hepatic diseases
Rare renal diseases
Rare respiratory diseases
Inborn errors of metabolism
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: All ages
MedlinePlus:32 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 liver disease and bronchiectasis, and has symptoms including hepatic failure, emphysema and hepatomegaly. An important gene associated with Emphysema Due to Aat Deficiency is SERPINA1 (serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1). The drug alpha 1-proteinase inhibitor, human has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and lung.
Disease Ontology:8 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.
NIH Rare Diseases:42 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. last updated: 7/26/2011
Genetics Home Reference:21 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:46 Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which... (613490) more...
GeneReviews summary for alpha1-a
Symptoms by clinical synopsis from OMIM:613490
Clinical features from OMIM:613490
HPO human phenotypes related to Emphysema Due to Aat Deficiency:(show all 11)
MalaCards organs/tissues related to Emphysema Due to Aat Deficiency:31
Skeletal muscle, Liver, Lung, Testes, Heart, Adipocyte, Myeloid, Monocytes
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
Search GEO for disease gene expression data for Emphysema Due to Aat Deficiency.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet