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 toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Qualificatifs : diagnostic diagnostic Alagille, syndrome d' [Par Dr Hadchouel M (INSERM - Institut National de la Santé et de la Recherche Médicale, U.347 "Génétique et mécanismes des maladies du foie de l’enfant"). Site éditeur Orphanet mots clés : Alagille, syndrome Alagille, syndrome diagnostic type(s) : guide ressources structure recherche texte association patients 12 mars 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

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: American Liver Foundation Also See: To locate a genetic counselor or clinical geneticist in your area: Professional Genetics Societies Genetic clinics, centers, departments 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 Begin your search for Alagille Syndrome Alagille Syndrome search Top Books Search for other books All Products Books Popular Music Classical Music Video DVD Pretending to be Normal More... Funkentelechy Vs. the Placebo Syndrome More... Black Light Syndrome More... Carpal Tunnel Syndrome More... More... More... 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 Ask The Doctor Forums 17 month with neonatal hepatitis/intra-hepatic bile duct paucity (Maternal ~ Child Health Forum) Support Groups: Alagille Syndrome Alliance [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 Online Communities / Message Boards... The Alagille Syndrome Message Board Website: http://members4.boardhost.com/agswebmaster/ Description: Part of the Alagille Syndrome Alliance . See their Bulletin Board Homepage for more information. Date Added: 04/29/2002 Online Chats... Note: Regularly scheduled chats are listed on our NEW Online Events Calendar Links in this section are primarily to chat rooms open 24/7 which may or may not be moderated. Chat Room Central Website: http://www.alagille.org/chatroom.html Description: Part of the Alagille Syndrome Alliance , this page has a link to their chat room and a chat schedule. Date Added: 07/23/2002 Usenet Groups... Note: Your browser must be properly configured to access Usenet groups from this site. None Listed Mailing Lists... None Listed National / International Organizations... UNITED STATES The Alagille Syndrome Alliance Website: http://www.alagille.org/

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