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Diseases » Alagille Syndrome » Summary

What is Alagille Syndrome?

Contents

What is Alagille Syndrome?

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.
Alagille Syndrome: 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

Alagille Syndrome: Introduction

How many people get Alagille Syndrome?

Prevalance of Alagille Syndrome: 1 per 20,000 - 70,000 people suffer from Alagille syndrome, Genetics Home Reference website
Prevalance Rate of Alagille Syndrome: approx 1 in 20,000 or 0.00% or 13,600 people in USA [about data]

How serious is Alagille Syndrome?

Complications of Alagille Syndrome: see complications of Alagille Syndrome

What are the symptoms of Alagille Syndrome?

Symptoms of Alagille Syndrome: see symptoms of Alagille Syndrome

Complications of Alagille Syndrome: see complications of Alagille Syndrome

How is it treated?

Treatments for Alagille Syndrome: see treatments for Alagille Syndrome
Research for Alagille Syndrome: see research for Alagille Syndrome

Name and Aliases of Alagille Syndrome

Main name of condition: Alagille Syndrome

Other names or spellings for Alagille Syndrome:

arteriohepatic dysplasia, peripheral pulmonary stenosis with cholestasis, Hepatic ductular hypoplasia, Watson Alagille syndrome, Alagille-Watson syndrome, Cholestasis with peripheral pulmonary stenosis, Paucity of interlobular bile ducts, Cardiovertebral syndrome, Watson-Miller syndrome, Hepatofacioneurocardiovertebral syndrome, Syndromic paucity of bile ducts

Arteriohepatic dysplasia Source - Diseases Database

Arteriohepatic dysplasia, Cholestasis with peripheral pulmonary stenosis, Hepatic ductular hypoplasia, syndromatic, WAS (Watson Alagille syndrome), Watson Alagille syndrome, Alagille-Watson syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Alagille Syndrome: