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Alagille syndrome

What is Alagille syndrome?

Alagille syndrome is a genetic disorder that affects the liver, heart, and other systems of the body.


Alagille syndrome is a genetic disorder that affects the liver, heart, and other systems of the body.
Acknowledgement of Alagille syndrome has not been added yet.
Synonyms for Alagille syndrome has not been added yet.
AGS is most commonly due to JAG1 (20p12) gene mutations (AGS type 1), encoding a Notch signaling pathway ligand. AGS type 2 is due to NOTCH2 gene mutations (1p12). This condition is inherited in an autosomal dominant pattern, which means one copy of the altered or deleted gene in each cell is sufficient to cause the disorder, but reduced penetrance and somatic mosaicism are common.
One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. Because the bile ducts can be malformed, narrow, or very few, bile builds up in the liver. The symptoms arise because the liver cannot properly eliminate waste from the bloodstream. Symptoms of alagille syndrome include jaundice, itchiness, and deposits of cholesterol on the skin called xanthomas. In the eyes, posterior embryotoxon and retinal pigmentary changes may occur. People with alagille syndrome may also develop an abnormal spine, a condition referred to as “butterfly” vertebrae. Cardiac abnormalities include pulmonary atresia or stenosis, atrial and/or ventricular septal defects, tetralogy of Fallot, and patent ductus arteriosus. Characteristic facial features, if present, are usually apparent from childhood and include prominent forehead, deep-set eyes, upslanting palpebral fissures, hypertelorism, flat nasal root, and pointed chin.
A diagnosis of Alagille syndrome is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Because the symptoms of Alagille syndrome are highly variable, obtaining a diagnosis can be difficult. Surgical removal and microscopic study of liver tissue (liver biopsy) can reveal bile duct paucity. A physician may suspect Alagille syndrome if an individual has three of the following five clinical finding in addition to bile duct paucity: cholestasis; heart defect; skeletal abnormality; eye (ophthalmologic) abnormality; and/or distinctive facial features.
Diagnostic tests of Alagille syndrome has not been added yet
The treatment of alagille syndrome is directed toward the specific symptoms that are apparent in each individual. Pediatricians, gastroenterologists, cardiologists, ophthalmologists, and other healthcare professionals may need to systematically and comprehensively plan treatment. Supplemental vitamins and nutrients may be needed. In some cases, a nasogastric tube or a gastrostomy tube must be used in order to ensure sufficient calorie absorption. The drug ursodeoxycholic acid is given to help improve bile flow, which can lead to a reduction in some symptoms such as itching (pruritus) or fatty deposits (xanthomas). Not all patients respond positively to pharmacologic and dietary therapies and may need to be treated via a surgical procedure known as partial biliary diversion. This surgical procedure is used to disrupt or divert recirculation of bile acids between the liver and the gastrointestinal tract. Liver transplantation may be necessary for patients with refractory disease. Cardiac or vascular procedures may be required for significant symptomatic lesions.
The disease usually stabilizes between ages 4 and 10 years.
Tips or Suggestions of Alagille syndrome has not been added yet.
References of Alagille syndrome has not been added yet.

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Community External News Link
Title Date Link
Mirum Snags First Drug Approval for Rare, Genetic Liver Disorder 10/03/2021
New stem cell source offers hope to patients with rare liver disease 10/16/2021
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CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

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We are the parent of Sophia which has been diagnosed with Alagille Syndrome in Montreal.
I'm a young girl with alagille syndrome. i was diagnoised at six months with the disorder. I have chronic kidney disease and chronic liver disease and two heart diseses.

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