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         Alagille Syndrome:     more detail
  1. Alagille Syndrome by National Digestive Diseases Information Clearinghouse, 2010-03-12
  2. Alagille syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Sonja Eubanks, 2005
  3. Alagille Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
  4. Alagille Syndrome

1. AGS 01 Home
Worldwide support network for people who care about people with alagille syndrome hosted by talkcity.Category Health Conditions and Diseases alagille syndrome......The official alagille syndrome Alliance Worldwide Web Site. This pageincludes extensive information about alagille syndrome and
http://www.alagille.org/
Atlanta AGS Picnic!
We will hold an AGS Family Picnic in Atlanta GA on Sunday May 25, 2003.
Please email Brenda Garza at bwg1@cdc.gov or Patti Everett at pattieverett@mindspring.com
for further information. Interesting Reading
Joe Anderson found a useful book. It's titled: "Growth, Stature, and Psychosocial Well- Being."
Click here for a description of the book's contents.
Julia Hope Schiff

If you are interested in making a donation to the Alliance in memory of Julia Hope Schiff,

please click the following link.
...
www.juliahopeschiff.com

Two great new ways to support the Alliance IGIVE Do you want to donate to the Alliance? Do you shop online? All you have to do is click on the IGIVE link below and follow the instructions! It is completely free to you, but the Alliance will get a donation of up to of the cost of your purchases. IGIVE features many well known retailers, including Amazon.com and even Ebay IGIVE link: www.igive.com Natalie Rich Fine Art Products - proceeds support The Alagille Syndrome Alliance Art, note cards, invitations:

2. Medical Information Including Diagnosis, Testing And Genetics
alagille syndrome in Brief. Testing for alagille syndrome. Diagnosis of AlagilleSyndrome. Treatment for alagille syndrome. Life Expectancy with alagille syndrome.
http://www.alagille.org/medical_info_1999.html
Alagille Syndrome in Brief Testing for Alagille Syndrome Diagnosis of Alagille Syndrome Treatment for Alagille Syndrome Life Expectancy with Alagille Syndrome The History of Alagille Syndrome Liver Transplantation and Alagille Syndrome

3. Alagille's Syndrome
Images of Alagille's Syndrome.Category Health Conditions and Diseases alagille syndrome......Dept. of Dermatology University of Iowa College of Medicine. Alagille'sSyndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata.
http://tray.dermatology.uiowa.edu/Alagil01.htm
Dept. of Dermatology - University of Iowa College of Medicine
Alagille's Syndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata
For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM) Return to Image Index page. Return to Image Index page.
Return to Dermatology's Home page.
January, 1996

4. Pediatric Database
A definition of alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management.
http://www.icondata.com/health/pedbase/files/ALAGILLE.HTM
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 4/26/94
    ALAGILLE SYNDROME
    DEFINITION:
    An autosomal dominant disorder resulting in a syndrome char acterized by hepatic and cardiac abnormalities.
    EPIDEMIOLOGY:
    • incidence: rare (over 100 cases world-wide)
    • age of onset:
      • infancy (jaundice)
    • risk factors:
      • familial - autosomal dominant and sporadic
        • chrom.#: 20p11.2
        • gene: ?
      • M = F
      PATHOGENESIS:
      1. Background
      • a disorder causing a direct hyperbilirubinemia and jaundice due to a persistent intrahepatic cholestasis
      2. Genetic Defect
      • genetic defect -> may be a defect in a specific connective tissue component present in the bile ducts, vasculature, and bone -> hepatic ductular hypoplasia -> intrahepatic cholestasis -> jaundice
      CLINICAL FEATURES:
      1. Gastrointestinal Manifestations
      1. Cholestasis
      • poor feeding, vomiting, lethargy, irritability (pruritis)
      • hepatomegaly +/- splenomegaly, steatorrhea, jaundice
      2. Complications
      • malabsorption of fats and fat-soluble vitamins (D,E,A,K)
      • failure to thrive
      • hepatic fibrosis with portal hypertension
      • cirrhosis with liver failure
      • hepatocellular carcinoma
      2. Cardiac Manifestations
  • 5. Alagille Syndrome
    A description, the diagnosis, symptoms, treatment and complications of alagille syndrome.
    http://www.liverkids.org.au/falagille.htm

    This site is hosted by
    Netfirms Web Hosting WHAT IS ALAGILLE'S SYNDROME? Alagille's syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. Alagille's Syndrome is generally inherited only from one parent. Each affected adult or child may have all or only a few of the features of the syndrome. Alagille's occurs approximately once in every 100,000 live births with equal incidence between girls and boys. For a couple who already have an affected child, the risk of a further child being affected are 1 in 30 if neither parent has any signs, and 1 in 10 if one of the parents has signs of the syndrome. DIAGNOSIS OF ALAGILLE'S SYNDROME This can be difficult in the young baby when the condition may appear very similar to other forms of liver disease, such as biliary atresia. However there are other features associated with Alagille's Syndrome which help establish the diagnosis. These include abnormalities in the cardiovascular system, the spinal column, the eye and the kidneys. Narrowing of the blood vessel connecting the heart to the lungs (pulmonary artery) leads to extra heart sounds but rarely problems in heart function. The shape of the bones of the spinal column may look like a butterfly's wings on x-ray but almost never cause problems with function of the nerves in the spinal cord.

    6. Alagille, Syndrome : Sites Et Documents Francophones
    syndrome alagille . Arborescence(s) du thesaurus MeSH contenant le motclé Alagille, syndrome alagille syndrome
    http://www.chu-rouen.fr/ssf/pathol/alagillesyndrome.html
    Alagille, Syndrome Menu général CISMeF Synonyme(s) CISMeF dysplasie artério-hépatique (AHD) ; paucité des voies biliaires, forme syndromique ; paucité ductulaire syndromatique .
    Synonyme(s) dysplasie arteriohepatique ; syndrome alagille
    Arborescence(s) Alagille, syndrome Alagille syndrome
    appareil digestif, maladies
    maladies et malformations congénitales, héréditaires et néonatales Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter
    Qualificatifs :

    7. Alagille Syndrome
    alagille syndrome. alagille syndrome Alliance. 10630 SW Garden Park Place
    http://www.kumc.edu/gec/support/alagille.html
    Alagille syndrome
    Alagille Syndrome Alliance
    10630 SW Garden Park Place
    Tigard, OR 97223
    Phone: (503) 639-6217 Contact: Cindy L Hahn
    Online Resouces:
    Also See:
    To locate a genetic counselor or clinical geneticist in your area:

    Genetic Societies
    Clinical Resources ... Search
    Genetics Education Center
    Debra Collins, M.S. CGC
    , Genetic Counselor, dcollins@kumc.edu
    This site subscribes to the principles of the HONcode
    (Health on the Net, Code of Conduct for Medical and Health Web Sites)
    of the Health On the Net Foundation

    8. NORD - Alagille Syndrome
    The synonyms, a general discussion and further resources.
    http://www.stepstn.com/cgi-win/nord.exe?proc=GetDocument&rectype=0&recnu

    9. Alagille Syndrome Related Search
    Search for books about alagille syndrome. alagille syndrome. Begin your search for. alagille syndrome
    http://www.book-summary.com/alagille-syndrome.html
    Alagille Syndrome
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    privacy
    ... Free Site Templates About Alagille Syndrome Touching the derivation of the name Alagille Syndrome, I confess myself, with sorrow, equally at fault. Among a multitude of opinions upon this delicate point- some acute, some learned, some sufficiently the reverse I am able to select nothing which ought to be considered satisfactory. Modified text originally written by Edgar Allan Poe.

    10. Gastroenterology - Alagille Syndrome
    ARTERIOHEPATIC DYSPLASIA OR alagille syndrome. Alagille first described a syndromeconsisting of a paucity of interlobular bile ducts with chronic cholestasis.
    http://www.mc.vanderbilt.edu/peds/pidl/gi/alagille.htm

    PIDL Home/ Contents
    Development Nutrition Acute Illness ... Psychosocial
    Gastroenterology
    ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME Alagille first described a syndrome consisting of a paucity of interlobular bile ducts with chronic cholestasis. Patients with this syndrome typically have the following major features: peculiar facies, chronic cholestasis, butterfly- like vertebral arch defects, and peripheral pulmonary artery hypoplasia or stenosis, either isolated or associated with complex cardiovascular abnormalities. Other less frequent features include growth retardation, mental retardation, renal disturbances, other vascular malformations, high- pitched voice, and delayed puberty with hypogonadism. Patients typically present with conjugated hyperbilirubinemia from chronic cholestasis within the first 3 months of life. Hepatomegaly and splenomegaly are almost invariably present. A remarkable feature is the extreme degree of pruritus. The splenomegaly may actually precede the development of portal hypertension. Xanthomas are commonly seen on the extensor surfaces of the fingers, palmar creases, nape of the neck, anal folds, popliteal fossa, and inguinal area. There is marked elevation of cholesterol, phospholipid, and triglyceride levels. Typically liver enzymes are found to be normal.

    11. Alagille Syndrome - C.L.A.S.S.
    alagille syndrome. What is alagille syndrome? alagille syndrome is amultisystem hereditary disorder. It often presents with clinical
    http://www.classkids.org/library/alagille.htm
    Alagille Syndrome
    What is Alagille syndrome?
    Alagille syndrome is a multi-system hereditary disorder. It often presents with clinical symptoms involving the liver during infancy and early childhood. Alagille syndrome is named after the French pediatric liver specialist who first recognized the clinical features of the syndrome. Seen throughout the world in many races, Alagille syndrome is more commonly reported in boys, although girls are also affected. Alagille syndrome is the most common form of the inherited disorders which cause reduced bile flow within the liver. Genetic research of the chromosomes of patients with Alagille syndrome has found mutations in the Jagged 1 gene.
    Diagnosis
    The diagnosis of Alagille syndrome usually depends upon finding several different components of the syndrome in an individual. The classic syndrome involves five distinct findings, including: Chronic cholestasis (reduced bile flow). Symptoms usually begin in infancy with jaundice, itching, and cholesterol deposits in the skin (xanthomas). A liver biopsy shows that there are not enough bile ducts within the liver. Congenital heart disease. Usually peripheral pulmonic stenosis, although other heart disorders such as Tetralogy of Fallot and coarctation of the aorta have been reported.

    12. Liver Links
    alagille syndrome. alagille syndrome alagille syndrome Alliance alagille syndromeAmerican Liver Foundation alagille syndrome Vanderbilt Med Ctr. Biliary Atresia.
    http://www.classkids.org/library/liverlinks.htm
    Liver Links
    Jaundice
    Jaundice in healthy newborns KidsHealth
    Jaundice in newborn babies
    CLDF
    Breast-feeding jaundice
    Dr. Greene
    Jaundice
    adam.com
    Jaundice
    BabyCenter
    Symptoms
    Symptoms of liver disease CLDF
    Symptoms of liver disease
    Merck Manual
    Symptoms of liver disease
    USC
    Lab Tests
    Liver function tests Hepatitis A-Z
    Liver function tests
    adam.com
    Understanding liver function tests
    RnCeus
    Interpreting LFTs
    AAFP
    Lab tests in liver diseases
    Dr. Worman
    Cirrhosis
    Cirrhosis of the Liver AGA Cirrhosis of the Liver NIDDK Cirrhosis Dr. Worman Cirrhosis OnHealth
    Alagille Syndrome
    Alagille Syndrome Alagille Syndrome Alliance Alagille Syndrome American Liver Foundation Alagille Syndrome Vanderbilt Med Ctr
    Biliary Atresia
    Biliary Atresia American Liver Foundation Biliary Atresia Canadian Liver Foundation Biliary Atresia Dr.Koop Biliary Atresia Vanderbilt Medical Center Biliary Atresia Pediatric Surgery Update Biliary Atresia Ethicon Reviewed on Children’s Liver Association for Support Services 27023 McBean Parkway #126 Valencia, CA 91355

    13. GeneReviews: Alagille Syndrome
    Your browser does not support HTML frames so you must view alagille syndromein a slightly less readable form. Please follow this link to do so.
    http://www.geneclinics.org/profiles/alagille/
    Your browser does not support HTML frames so you must view Alagille Syndrome in a slightly less readable form. Please follow this link to do so.

    14. Alagille Syndrome / The Family Village
    Library A B. alagille syndrome.
    http://www.familyvillage.wisc.edu/lib_alag.htm
    Alagille Syndrome
    Who to Contact
    Where to Go to Chat with Others

    Learn More About It

    Web Sites
    ...
    Search Google for "Alagille Syndrome"
    Who to Contact
    Alagille Syndrome Alliance [ASA]
    10630 SW Garden Park Place
    Tigard, Oregon, USA 97223
    E-mail: alagille@earthlink.net
    Web: http://www.alagille.org/
    See also: Arteriohepatic Dysplasia, Watson-Alagille Syndrome, Syndromic Hepatic Ductular Hypoplasia, Syndromic Intrahepatic Biliary Hypoplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromic Bile Duct Paucity, Intrahepatic Biliary Artresia or Dysgenesis. ASA's mission is to provide information about Alagille syndrome, networking services, and a forum for exchange of experiences for families with the syndrome. They also disseminate information to all those interested in this rare liver disorder, and will refer families to others in the same geographical area. The Alliance publishes a quarterly newsletter, LiverLinks , and has a brochure and a fact sheet available that explain the syndrome and treatment that is available. ASA offers a new parent packet that includes, the newsletter, fact sheet, brochure, and an information form for referrals. ASA collects information on physicians and research being done and makes this information available to its members on a limited basis. They are in the process of developing a bibliography of articles and they have a scientific advisory board.

    15. EMedicine - Alagille Syndrome : Article By Ann Scheimann, MD
    alagille syndrome alagille syndrome (AS) is an autosomal dominant disorder (OMIM118450) associated with abnormalities of the liver, heart, skeleton, eye
    http://www.emedicine.com/ped/topic60.htm
    (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology
    Alagille Syndrome
    Last Updated: February 25, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
    Author: Ann Scheimann, MD , Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution Ann Scheimann, MD, is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition Editor(s): Robert Baldassano, MD , Director, Center for Pediatric Inflammatory Bowel Disease, Assistant Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD

    16. HONselect - Alagille Syndrome
    English alagille syndrome, Arteriohepatic Dysplasia - Dysplasia, Arteriohepatic- Arteriohepatic Dysplasias - Dysplasias, Arteriohepatic - Syndrome, Alagille.
    http://www.hon.ch/HONselect/RareDiseases/C06.130.450.250.125.html
    List of rare diseases: English Deutsch
    Language:
    MeSH term:
    Accepted terms:
    English: Alagille Syndrome - Arteriohepatic Dysplasia
    - Dysplasia, Arteriohepatic
    - Arteriohepatic Dysplasias
    - Dysplasias, Arteriohepatic
    - Syndrome, Alagille
    Français: ALAGILL, SYNDROME - DYSPLASIE ARTERIOHEPATIQUE
    - SYNDROME ALAGILL Deutsch: Alagille-Syndrom - Arteriohepatische Dysplasie - Dysplasie, arteriohepatische Español: SINDROME DE ALAGILLE - DISPLASIA ARTERIOHEPATICA Português: SINDROME ALAGILE - DISPLASIA ARTERIO-HEPATICA HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: No Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C06.130.450.250.125.html Last modified: Thu Jul 25 2002

    17. Volume 16 Number 3 Page 243 Alagille Syndrome Is Caused By Mutations In Human Ja
    volume 16 number 3 page 243 alagille syndrome is caused by mutationsin human Jagged1, which encodes a ligand for Notch1. Linheng
    http://www.stowers-institute.org/labs/LiLab/Jagged1-Alagille.htm
    volume 16 number 3 page 243
    Alagille syndrome is caused by mutations in human , which encodes a ligand for Notch1
    Linheng Li , Ian D. Krantz , Yu Deng , Anna Genin , Amy B. Banta , Colin C. Collins , Ming Qi , Barbara J. Trask , Wen Lin Kuo , Joanne Cochran , Teresa Costa , Mary Ella M. Pierpont , Elizabeth B. Rand , David A. Piccoli , Leroy Hood
    gene ( ), encoding a ligand for the developmentally important Notch transmembrane receptor, to the Alagille syndrome critical region within 20p12. The Notch intercellular signalling pathway has been shown to mediate cell fate decisions during development in invertebrates and vertebrates. We demonstrate four distinct coding mutations in from four Alagille syndrome families, providing evidence that it is the causal gene for Alagille syndrome. All four mutations lie within conserved regions of the gene and cause translational frameshifts, resulting in gross alterations of the protein product. Patients with cytogenetically detectable deletions including have Alagille syndrome, supporting the hypothesis that haploinsufficiency for this gene is one of the mechanisms causing the Alagille syndrome phenotype.

    18. Alagille Syndrome Articles, Support Groups, And Resources
    alagille syndrome articles, support groups, and resources for patientsfrom Med Help International (www.medhelp.org). alagille syndrome.
    http://www.medhelp.org/HealthTopics/Alagille_Syndrome.html
    [Health Topics A-Z]
    A
    B C D ... Z
    Alagille Syndrome

    [Med Help Home]
    [Library Search] [Medical Forums] ... [Patient Network] Revised: 3/30/2003

    19. Alagille Syndrome Alliance
    alagille syndrome Alliance. National network. Founded 1993. Support network for anyonewho cares about people with alagille syndrome, a genetic liver disorder.
    http://www.medhelp.org/amshc/amshc238.htm
    Title: Aicardi Syndrome Newsletter, Inc. Description: Support for families of daughters with Aicardi syndrome, a rare, seizure disorder that affects only females and is characterized by retinal lesions. Information and referrals, resources, research projects. Phone support network, research group, newsletters. Dues $25/year. Scope: International network Founded: Address: c/o Denise M. Parsons
    1510 Polo Fields Ct.
    Louisville, Kentucky, 40245
    United States Telephone: Fax: Email: aicnews@aol.com Web Address: http://www.aicardi.com This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org
    Updated: 02/2003

    20. SupportPath.com: Alagille Syndrome
    SupportPath.com, alagille syndrome. Also called Arteriohepatic dysplasia. NoneListed. Clinical Trials Research on alagille syndrome
    http://www.supportpath.com/sl_a/alagille_syndrome.htm
    Alagille Syndrome
    Also called: Arterio-hepatic dysplasia Other topics of interest on SupportPath.com:
    Liver Disease
    Rare Disorders About Us Add-A-Link ... here
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