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Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Alagille syndrome, or ALGS, is a genetic disorder that can affect multiple organs in the body and cause a variety of abnormalities.
Alagille syndrome typically affects the liver but it can also cause problems in the heart, kidney, eyes, and bones.
One of the main liver features of Alagille syndrome is the disruption of bile flow from the liver to the gallbladder.
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.
The symptoms and signs of cholestasis include jaundice, or the yellowing of skin and eyes, severe itching, pale colored stools, and dark urine.
Some patients may also have an enlarged spleen or liver.
Because many necessary vitamins and nutrients need bile to be properly absorbed, people with Alagille syndrome may also experience select vitamin deficiencies, or poor weight gain and growth.
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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