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Diseases

alpha 1-Antitrypsin Deficiency

alpha 1-antitrypsin deficiency

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
alpha 1-Antitrypsin Deficiency
Standard Disease Name
alpha 1-antitrypsin deficiency
MeSH Tree
No data
ICD-10
E88.01

Identifiers

DO ID
No data
MeSH ID
D019896
OMIM ID
613490
UMLS ID
C0221757
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.|MSH2017_2016_08_12:Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.|MEDLINEPLUS_20151021:<p>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.</p> <p>Symptoms of AAT deficiency include</p> <ul> <li>Shortness of breath and wheezing</li> <li>Repeated lung infections</li> <li>Tiredness</li> <li>Rapid heartbeat upon standing</li> <li>Vision problems</li> <li>Weight loss</li> </ul> <p>Some people have no symptoms and do not develop complications.</p> <p>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.</p> <p >NIH: National Heart, Lung, and Blood Institute</p>|CSP2006:autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among Caucasians of northern European ancestry.