|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Cirrhosis and carcinoma of the liver affect at least 25% of AAT-deficient adults over the age of 50 years.
|
9447774 |
1997 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
AAT polymorphisms were investigated by isoelectric focusing in 61 patients with liver cirrhosis and 9 patients with hepatocellular carcinoma.
|
19961268 |
2009 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
α(1)-Antitrypsin (α1AT) deficiency is a disease with multiple manifestations, including cirrhosis and emphysema, caused by the accumulation of stable polymers of mutant protein in the endoplasmic reticulum of hepatocytes.
|
21909074 |
2011 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha-1-Antitrypsin (AAT) deficiency (AATD) is a hereditary disorder that manifests primarily as pulmonary emphysema and liver cirrhosis.
|
30103740 |
2018 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha 1-antitrypsin (A1AT) deficiency is related to lung and liver diseases, including pulmonary emphysema and liver cirrhosis in humans.
|
31251477 |
2019 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
SERPINA1 Pi*Z was not associated with liver fibrosis or cirrhosis.
|
31517326 |
2019 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
alpha 1-Antitrypsin (AAT) deficiency is associated with predisposition to developing liver cirrhosis in early childhood, and chronic degenerative lung disease in early adult life.
|
7820538 |
1994 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Alpha-1-antitrypsin (alpha-1-AT) deficiency can lead to juvenile liver cirrhosis and lung emphysema in adulthood.
|
8168837 |
1994 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
A deficiency in the plasma protease inhibitor alpha 1-antitrypsin can cause chronic obstructive emphysema or infantile liver cirrhosis.
|
6306478 |
1983 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A significant deviation in AAT genotypes frequencies from the Hardy-Weinberg equilibrium in the adult cirrhosis group occurred due to a higher observed frequency than expected for the Pi ZZ homozygous genotype.Pi ZZ in adults may be considered as the risk factor for liver cirrhosis.
|
28178162 |
2017 |
|
Liver Cirrhosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Extremely deficient levels of alpha-1-antitrypsin (ALPHA1AT) predispose such deficient individuals to the development of emphysema and cirrhosis.
|
767197 |
1976 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
First, the accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis.
|
17562108 |
2007 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For example the polymerization of mutant alpha(1)-antitrypsin leads to the accumulation of ordered polymers within the endoplasmic reticulum of hepatocytes in association with cirrhosis.
|
19164889 |
2009 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Four patients had moderate to wd-HCC in the context of pre-existing liver disease with cirrhosis (progressive familial intrahepatic cholestasis type-2 = 2, alpha-1 antitrypsin deficiency = 1, Alagille syndrome = 1).
|
29968976 |
2018 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Heterozygosity for the alpha-1-antitrypsin Z allele in cirrhosis is associated with more advanced disease.
|
29573137 |
2018 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
HFE and alpha-1 antitrypsin polymorphisms were characterized in 200 Egyptian patients with HCV infection (100 patients complicated with cirrhosis, 100 patients with HCC) and 100 healthy subjects who had no history of any malignancy.
|
21925577 |
2011 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In some patients, accumulation of misfolded PiZ mutant AAT protein triggers hepatocyte injury, leading to inflammation and cirrhosis.
|
29032169 |
2017 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Individuals who are deficient in AAT (those with levels < 11 micromol/L) are at risk for developing such clinical manifestations as emphysema, cirrhosis, panniculitis, and anticytoplasmic neutrophilic antibody (C-ANCA)-positive vasculitis (Wegener's granulomatosis).
|
16088434 |
2005 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
It is estimated that in about 1% of all liver transplant candidates liver cirrhosis is caused by hereditary homozygous α1‑antitrypsin (AAT) deficiency.
|
23235492 |
2013 |
|
Liver Cirrhosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Its severe form is characterized by very low serum levels of AAT, and it most often affects the lungs (causing early-onset emphysema or chronic obstructive lung disease (COPD)) and/or liver (leading to jaundice and liver cirrhosis in children and adults).
|
30929319 |
2019 |
|
Liver Cirrhosis
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Liver injury resulting from this gain-of-toxic function mechanism in which mutant AAT retained in the ER initiates a series of pathologic events, eventually culminating at liver cirrhosis and HCC.
|
28927525 |
2017 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Liver transplantation (LT) cures cirrhosis caused by AAT deficiency and restores the normal production of AAT.
|
24019185 |
2013 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
Severe alpha-1-antitrypsin (AAT) deficiency (PiZZ) is a risk factor for liver disease, but the prevalence of liver cirrhosis and hepatocellular cancer in PiZZ adults is unknown.
|
28328804 |
2017 |
|
Liver Cirrhosis
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Since MZ heterozygotes are almost always, and MS phenotypes sometimes, associated with decreased serum alpha 1-AT levels, and since Z and MZ phenotypes are associated with increased hepatic fibrosis or cirrhosis, these variants may be relevant to problems of spontaneous fibrosis or methotrexate-induced hepatotoxicity in psoriasis. alpha 1-AT deficiency may also contribute to guttate flares with infection and to increased O-2 . production by psoriatic sera-stimulated polymorphonuclear leukocytes (PMNs).
|
6333440 |
1984 |
|
Liver Cirrhosis
|
0.400 |
Biomarker
|
disease |
BEFREE |
The accumulation of polymers underlies the retention of mutants of alpha(1)-antitrypsin and neuroserpin within hepatocytes and neurons to cause cirrhosis and dementia respectively.
|
15787598 |
2005 |