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Information for patients and families
Glut1 deficiency syndrome (Glut1 Deficiency Foundation)
Gorlin syndrome (Gorlin Syndrome Alliance)
Recurrent pericarditis (NORD)
Autoimmune polyglandular syndrome type 1 (NORD)
Opsoclonus myoclonus syndrome (NORD)
Thyroid eye disease (NORD)
Bile synthesis disorders (NORD)
Cyclic vomiting syndrome (NORD)
Eosinophilic esophagitis (NORD)
Short bowel syndrome (NORD)
Essential thrombocythemia (NORD)
Polycythemia vera (NORD)
Sickle cell disease (NORD)
Waldenstrom macroglobulinemia (NORD)
Warm autoimmune hemolytic anemia and cold agglutinin (NORD)
Congenital athymia (NORD)
Cytomegalovirus infection after transplant (NORD)
Post-transplant lymphoproliferative disorders (NORD)
Severe chronic neutropenia (NORD)
Alagille syndrome (NORD)
Aromatic L-amino acid decarboxylase deficiency (NORD)
Cerebrotendinous xanthomatosis (NORD)
Classical homocystinuria (NORD)
Congenital cytomegalovirus (NORD)
Fabry disease (NORD)
Gaucher disease (NORD)
Glycogen storage disease type II (NORD)
Metachromatic leukodystrophy (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Mycobacterium avium complex (NORD)
NGLY1 deficiency (NORD)
Niemann-Pick disease types A and B (NORD)
PIK3CA-related overgrowth spectrum (NORD)
Tay-Sachs disease (NORD)
Zellweger spectrum disorders (NORD)
Early infantile epileptic encephalopathy (NORD)
Opsoclonus myoclonus syndrome (NORD)
Spinocerebellar ataxia (NORD)
Focal segmental glomerulosclerosis (NORD)
IgA nephropathy (NORD)
Pulmonary arterial hypertension (NORD)
ADHD: Information for patients and families (The Primary School)
Asthma: Information for patients and families (The Primary School)
Childhood nutrition and obesity: Information for patients and families (The Primary School)
Childhood oral health: Information for patients and families (The Primary School)
Food allergies and EpiPens: Information for patients and families (The Primary School)
Toxic stress: Information for patients and families (The Primary School)
Affected individuals have a reduced number of bile ducts in the liver.
As a result, there is a decrease in bile flow, also known as cholestasis.
Some patients may also have an enlarged spleen or liver.
Deficiencies in specific vitamins may result in vision problems from a lack of Vitamin A, bone weakness from a lack of vitamin D, developmental delays from a lack of Vitamin E, and blood clotting problems from a lack of Vitamin K.
The heart can also be impacted by Alagille syndrome.
The most common finding in ALGS patients is peripheral pulmonary arterial stenosis.
This means that the blood vessels carrying blood to the lungs are narrowed.
The stenosis typically manifests as a heart murmur, or an extra sound in the heartbeat.
Symptoms are based on the degree of narrowing of the blood vessel and some people may have no symptoms while others may have dizziness, shortness of breath, increased sweating, chest pains, and cyanosis, or bluish colored skin.
Alagille syndrome (NORD) is a rare, autosomal dominant disorder that affects the liver, heart, and other parts of the body. The most common symptom of Alagille syndrome is jaundice (yellowing of the skin and eyes) in infancy. Other symptoms may include malformed bones, kidney problems, and irregular developmental milestones. There is no cure for Alagille syndrome, but many affected individuals can lead normal, productive lives with proper care.
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