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Diseases
alpha 1-Antitrypsin Deficiency
alpha 1-antitrypsin deficiency
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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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.
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