- Emphysema (HP:0002097). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:60)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:60)
- Decreased circulating alpha-1-antitrypsin concentration (HP:0032025): The concentration of alpha-1-antitrypsin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:60)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Neonatal unconjugated hyperbilirubinemia (HP:0008176). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Bronchitis (HP:0012387): Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Decreased DLCO (HP:0045051): Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Intrahepatic inclusion bodies (HP:6000976): Nuclear or cytoplasmic aggregates of stainable substances within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:60)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Failure to thrive in infancy (HP:0001531). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Chronic pulmonary obstruction (HP:0006510): An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Cytoplasmic antineutrophil antibody positivity (HP:0032230): The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:60)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60)
- Panniculitis (HP:0012490): Inflammation of subcutaneous adipose tissue. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:60)
These phenotypes are associated with the disease Alpha-1-antitrypsin deficiency (ORPHA:60).