eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | alpha-1-antitrypsin deficiency |
| Comorbidity | C0221757|alpha-1 antitrypsin deficiency |
| Sentences | 7 |
| PubMedID- 24222913 | Furthermore, the expression of alpha-1 antitrypsin deficiency is variable even within the same family or in carriers of the same molecular defects; thus, patients must be counselled about the significance of molecular data that genetic testing offers. |
| PubMedID- 20820946 | alpha-1 antitrypsin deficiency is an autosomal recessive disorder resulting in the expression of a defective alpha-1 antitrypsin protein as a consequence of the presence of an abnormal allele. |
| PubMedID- 25928208 | Studies that exclusively enrolled subjects with alpha-1 antitrypsin deficiency or those that tested single risk factors, including genetic polymorphisms, for association with outcomes in copd were excluded. |
| PubMedID- 22783301 | alpha-1 antitrypsin deficiency (aatd) is an inherited disease due to mutations in the serpina1 gene on chromosome 14. this gene codes for aat which protects the lungs from damage and make them work normally. |
| PubMedID- 21138571 | alpha-1 antitrypsin deficiency (a1atd) is an established genetic risk factor estimated to occur in 1-2% of patients with copd, though generally under-recognised and the co-morbidities in this condition have not explored [4]. |
| PubMedID- 24955265 | Furthermore, the association between lymphoma and alpha-1 antitrypsin deficiency is scarcely described in the literature. |
| PubMedID- 25945264 | An association between scad and fibromuscular dysplasia, marfan's syndrome, kawasaki's disease, alpha-1 antitrypsin deficiency, and diabetic ketoacidosis has also been shown in recent studies [4]. |
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