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Alagille Syndrome
Definition: An autosomal dominant MUTATION involving CHROMOSOME 20. It is characterized by the almost normal LIVER that has few or no intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). Other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS.

Synonym(s): Arteriohepatic Dysplasia / Dysplasia, Arteriohepatic / Alagille-Watson Syndrome / Cholestasis with Peripheral Pulmonary Stenosis / Hepatic Ductular Hypoplasia, Syndromatic / Alagille Watson Syndrome / Arteriohepatic Dysplasias / Dysplasias, Arteriohepatic / Syndrome, Alagille / Syndrome, Alagille-Watson
MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Alagille syndrome?
Alagille syndrome is a genetic disorder that can affect the liver, heart, and other systems of the body.
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (jaundice), itching, and deposits of cholesterol in the skin (xanthomas). A liver biopsy may indicate too few bile ducts (bile duct paucity). These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine.
Heart problems associated with Alagille syndrome may include impaired blood flow ...

How common is Alagille syndrome?
The estimated prevalence of Alagille syndrome is 1 in every 70,000 people. This figure is based on diagnoses of liver disease in infancy, and may be an underestimation due to the varying severity and symptoms of the disorder. The prevalence of this disorder could be as high as 1 in 20,000 people if the frequency of gene mutations that cause Alagille syndrome is considered.


More information from the Genetics Home Reference Website
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  Web resources for "Alagille Syndrome"
  English (12)  French (1)    Spanish (1)      

= Site with HON description   -   = Site with a robot description
info: enter the site: (click below) domain of the site:  
view the HON description of the site HONcode - ASNOM - Association Amicale Santé Navale et d'Outre Merwww.asnom.org  
view the HON description of the site HONcode - Alagille Syndrome - National Digestive Diseases Information Clearinghouse www.digestive.niddk.nih.gov  
view the HON description of the site HONcode - Alagille syndrome - Genetics Home Referenceghr.nlm.nih.gov 3
view the robot description of the site Alagille Syndrome / Family Villagewww.familyvillage.wisc.edu  
view the robot description of the site Liver Disease and Organ Transplant Info - C.L.A.S.S. Resource Center C.L.A.S.S. Kids Site Templatewww.classkids.org  
view the robot description of the site http://www.alagille.org/www.alagille.org 2
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the robot description of the site Whonamedit - Alagille's syndromewww.whonamedit.com  
view the HON description of the site HONcode - Orphanet: Alagille syndromewww.orpha.net 3
view the HON description of the site HONcode - Liver Diseases: MedlinePluswww.nlm.nih.gov 2
view the HON description of the site HONcode - Liver Condionswww.kumc.edu  
 
 

Broader term(s): - Cholestasis, Intrahepatic - Cholestasis - Bile Duct Diseases - Biliary Tract Diseases - Digestive System Diseases - Heart Defects, Congenital - Cardiovascular Abnormalities - Cardiovascular Diseases - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical image(s) for "Alagille Syndrome"
click below to enlargeAlagilles Syndrome - autosomal recessive disease
www.sos.se
Copyright © Socialstyrelsen, Stockholm, Sweden Alagilles Syndrome - autosomal recessive disease
click below to enlargeAlagille's Syndrome / Arteriohepatic Dysplasia   -  Right elbow - Xanthomata
tray.dermatology.uiowa.edu
Copyright © Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata
Broader term(s): - Cardiovascular Diseases
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  Medical News for "Alagille Syndrome"
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Broader term(s): - Abnormalities

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  Scientific articles from MEDLINE for "Alagille Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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  Clinical Trials for "Alagille Syndrome"
ClinicalTrials.gov - Linking patients to medical research

Broader term(s): - Cholestasis, Intrahepatic - Cholestasis - Bile Duct Diseases - Biliary Tract Diseases - Digestive System Diseases - Heart Defects, Congenital - Cardiovascular Abnormalities - Cardiovascular Diseases - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities

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  Medical Conferences/Events for "Alagille Syndrome"
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Broader term(s): - Cardiovascular Diseases

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Abnormalities
                  Abnormalities, Multiple 
      Diseases
          Cardiovascular Diseases
              Cardiovascular Abnormalities
                  Heart Defects, Congenital 
      Diseases
          Digestive System Diseases
              Liver Diseases
                  Cholestasis, Intrahepatic 
              Biliary Tract Diseases
                  Bile Duct Diseases
                      Cholestasis
                          Cholestasis, Intrahepatic 

MeSH 2010 © U.S. National Library of Medicine®.

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