Alagille syndrome (ALGS) can affect numerous systems of the body. It is caused by genetic mutations of the JAG1 or NOTCH2 genes that affect the Notch signaling pathway, a highly conserved system important for embryonic development. ALGS exhibits reduced penetrance and variable expressivity, which can lead to variations in clinical features. Learn about ALGS symptoms here: Symptoms…
Lysosomal acid lipase deficiency (LAL-D) is a very rare inherited autosomal recessive disease that results in abnormal lysosomal storage of cholesteryl esters and triglycerides throughout the body. It is characterized by systemic dyslipidemia and progressive atherosclerosis, as well as liver, splenic, and gastrointestinal dysfunction. Learn about the genetics, inheritance, prevalence, and incidence of LAL-D here: Epidemiology…
Alpha-1 antitrypsin deficiency (AATD) is an inherited autosomal codominant condition that is passed down from both parents to their children. The disease was first observed as a connection between low plasma serum levels of the protein alpha-1 antitrypsin (AAT) and symptoms of pulmonary emphysema. The therapies of AATD include pulmonary rehabilitation therapy, supportive respiratory therapy,…
Long chain fatty acid oxidation disorders (LCFAOD) are a group of rare, genetic, metabolic disorders characterized by impaired fat metabolism resulting in acute crises of energy production and chronic energy deficiency. The clinical presentation of the diseases varies greatly from one patient to the next; comorbidities include hypoketotic hypoglycemia, hepatic dysfunction, cardiomyopathy, rhabdomyolysis, skeletal myopathy,…
A multidisciplinary team of Alagille syndrome (ALGS) specialists can help patients with the disease manage their condition and symptoms. These ALGS specialists include pediatricians, nutritionists, gastroenterologists, cardiologists, ophthalmologists, nephrologists, transplant hepatologists, and clinical geneticists. Learn about these specialists here: Specialists for Alagille Syndrome
Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition characterized by liver and obstructive lung disease. This condition is caused by a disruption in the normal production of the protein alpha-1 antitrypsin. Learn about the genes, mutations, and types of AATD here: The etiology and different types of AATD
