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Items: 1 to 20 of 33

1.

Alpha-1-antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is characterized by an increased risk for: chronic obstructive pulmonary disease (i.e., emphysema, persistent airflow obstruction, and/or chronic bronchitis) in adults; liver disease in children and adults; panniculitis; and c-ANCA positive vasculitis. Emphysema, sometimes with associated bronchiectasis, is the most common manifestation of AATD. Smoking is the major factor influencing the course of chronic obstructive pulmonary disease (COPD). The onset of respiratory disease in smokers with AATD is characteristically between ages 40 and 50 years; in non-smokers, the onset can be delayed to the sixth decade, and some non-smokers never develop COPD. Non-smokers may have a normal life span. Although reported, emphysema in children with AATD is extremely rare. AATD-associated liver disease, which is present in only a small portion of affected children, manifests as obstructive jaundice and increased serum aminotransferase levels in the early days and months of life. The incidence of liver disease increases with age. Liver disease in adults (manifesting as cirrhosis and fibrosis) may occur in the absence of a history of neonatal or childhood liver disease. The risk for hepatocellular carcinoma (HCC) is increased in individuals with AATD. [from GeneReviews]

MedGen UID:
67461
Concept ID:
C0221757
Disease or Syndrome
2.

Prolastin

MedGen UID:
196164
Concept ID:
C0701947
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Proteolysis

The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. [GOC:bf, GOC:mah] [from GO]

MedGen UID:
108934
Concept ID:
C0597304
Molecular Function
4.

Emphysema

A pathological accumulation of air in tissues or organs. [from MeSH]

MedGen UID:
4925
Concept ID:
C0013990
Pathologic Function
5.

alpha 1-Antitrypsin

Alpha-1-antitrypsin (418 aa, ~47 kDa) is encoded by the human SERPINA1 gene. This protein plays a role in regulation of proteolysis. [from NCI]

MedGen UID:
215
Concept ID:
C0002191
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
7.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
8.

Furriers lung

MedGen UID:
538594
Concept ID:
C0264476
Disease or Syndrome
9.

Coffee-workers lung

MedGen UID:
538589
Concept ID:
C0264468
Disease or Syndrome
10.

Cheese-washers lung

MedGen UID:
507549
Concept ID:
C0007969
Disease or Syndrome
11.

PROGRESSIVE ENCEPHALOMYELITIS WITH RIGIDITY

MedGen UID:
349287
Concept ID:
C1861457
Disease or Syndrome
12.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
13.

Oncolysis

The destruction of tumor cells or a reduction in swelling. [from NCI]

MedGen UID:
90709
Concept ID:
C0333516
Neoplastic Process
14.

Emphysema

Emphysema is a type of COPD involving damage to the air sacs (alveoli) in the lungs. As a result, your body does not get the oxygen it needs. Emphysema makes it hard to catch your breath. You may also have a chronic cough and have trouble breathing during exercise. The most common cause is cigarette smoking. If you smoke, quitting can help prevent you from getting the disease. If you already have emphysema, not smoking might keep it from getting worse. Treatment is based on whether your symptoms are mild, moderate or severe. Treatments include inhalers, oxygen, medications and sometimes surgery to relieve symptoms and prevent complications.  [from MedlinePlus]

MedGen UID:
18764
Concept ID:
C0034067
Disease or Syndrome
15.

Protease Inhibitors

A compound that interferes with the ability of certain enzymes to break down proteins. Some protease inhibitors can keep a virus from making copies of itself (for example, AIDS virus protease inhibitors), and some can prevent cancer cells from spreading. [from NCI_NCI-GLOSS]

MedGen UID:
18701
Concept ID:
C0033607
Pharmacologic Substance
16.

Zemaira

MedGen UID:
233096
Concept ID:
C1330611
Amino Acid, Peptide, or Protein; Pharmacologic Substance
17.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
18.

Obstructive lung disease

Obstruction of conducting airways of the lung. [from HPO]

MedGen UID:
154671
Concept ID:
C0600260
Disease or Syndrome
19.

Mediator of inflammation

The endogenous compounds that mediate inflammation (AUTACOIDS) and related exogenous compounds including the synthetic prostaglandins (PROSTAGLANDINS, SYNTHETIC). [from MeSH]

MedGen UID:
66209
Concept ID:
C0243042
Pharmacologic Substance
20.

Serpin

Irreversible serine proteinase inhibitors that exert their action on peptidases. Serpins can be localized inside, or outside of the cell, and are found in all groups of organisms with the exception of fungi. In human plasma, serpins represent approximately 2% of the total protein present. [from NCI]

MedGen UID:
48634
Concept ID:
C0036764
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
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