Alagille Syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver. More detailed information about the symptoms, causes, and treatments of Alagille Syndrome is available below.
See full list of 55 symptoms of Alagille Syndrome
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See full list of 33 occasional symptoms of Alagille Syndrome
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Read more about Misdiagnosis and Alagille Syndrome
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Alagille Syndrome include:
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Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). - (Source - Diseases Database)
Alagille Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Alagille Syndrome, or a subtype of Alagille Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Alagille Syndrome as a "rare disease".
Source - Orphanet
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