21. Alagille Syndrome Seattle. alagille syndrome. AHD, Arteriohepatic Table 1. Molecular GeneticTesting Used to Diagnose alagille syndrome. Test Method, Mutations http://ribosome.geneclinics.org/profiles/alagille/details.html

Alagille Syndrome [AHD, Arteriohepatic Dysplasia, Cholestasis with Peripheral Pulmonary Stenosis] Authors: Nancy B Spinner, PhD Ian D Krantz, MD Children's Hospital of Philadelphia Initial Posting: 19 May 2000 Last Update 4 February 2003 Summary Disease characteristics. Alagille syndrome is characterized by potentially life-threatening involvement of the liver and heart and by skeletal, ophthalmological, and facial changes that may not be medically significant but can be useful in diagnosis. Hepatic involvement typically presents in the first three months of life as cholestasis, jaundice, and pruritis with a paucity of bile ducts observed histologically; some patients develop liver failure. The most common cardiac manifestations are peripheral and branch pulmonic stenosis (67% of patients) and tetralogy of Fallot (7-16%). Posterior embryotoxon (prominent Schwalbe's ring) of the eye and butterfly vertebrae do not cause symptoms. Diagnosis/testing. The diagnosis of Alagille syndrome is primarily based on clinical findings. Fluorescence in situ hybridization (FISH) detects a microdeletion of 20p12, including the entire

22. Alagille Watson Syndrome * P alagille syndrome from GENE Clinics by Lynn Bason, MS S Japanese AlagilleSyndrome Okayama Hospital, Japan. S Children's Liver Alliance Inc. http://ibis-birthdefects.org/start/alagsyn.htm

Alagille Watson Syndrome About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Notice! For more about parental and patient support resources explore Support Groups . For general sources of information see Professional Associations and Information Sources AHD Alagille - Watson Syndrome Arteriohepatic Dysplasia AWS Cholestasis With Peripheral Pulmonary Artery Stenosis Syndromatic Hepatic Ductular Hypoplasia Notice: You may consider searching for Liver or Hepatic disorders Special Resources Alagille Watson Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [S] Support Group [Japanese] [*] [P] Alagille Syndrome from GENE Clinics by Lynn Bason, MS, et al., January 5, 2000 Clinical Finding, % of Patients: Bile duct paucity, 85% Chronic cholestasis, 96% Cardiac murmur, 97% Eye findings, 78% Vertebral anomalies, 51% Characteristic facies, 96% Renal disease, 40% Pancreatic insufficiency, 41%

23. Alagille Syndrome Alliance Return to Search Page alagille syndrome Alliance. Conditions alagille syndrome;Watsonalagille syndrome. Hours Answered 8am - 9pm, PST Voicemail yes. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Alag

24. ALAGILLE SYNDROME alagille syndrome is an inherited disorder that mimics other formsof prolonged liver disease seen in infants and young children. http://www.gastro.com/html/liverdisease/alagillesyndrome.shtml

Alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. Children with Alagille Syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver. This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50 percent of affected children. Symptoms of the illness are jaundice, pale, loose stools and poor growth within the first three months of life. Later there is persistent jaundice, itching, fatty deposits in the skin and stunted growth and development during early childhood. Frequently, the disease stabilizes between ages 4 and 10 with an improvement in symptoms. Other features which help establish the diagnosis 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 to 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.

25. Alagille Syndrome alagille syndrome. alagille syndrome Alliance Worldwide support network forpeople who care about people with alagille syndrome hosted by talkcity. http://www.health-nexus.com/alagille_syndrome.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alagille Syndrome Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. Children's Liver Alliance - Alagille Syndrome Contains intimate stories of this liver disease and its effect on families. Read symptoms, treatments and medical articles. Gastroenterology - Alagille Syndrome Gastroenterology. ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME. Alagille first described a syndrome consisting of a paucity of interlobular ... Alagille Syndrome / The Family Village Who to Contact. WebMD/Lycos - Article - Alagille Syndrome With Lycos, WebMD offers a comprehensive online health resource. Whether you want to get information about a medical condition, learn more about leading a healthier lifestyle, or talk to others...

26. Liver Diseases Please Visit Our Liver Disease Pages listed below Liver Diseases alagille syndromeAlpha1-Antitrypsin Deficiency Autoimmune Hepatitis Biliary Atresia http://www.health-nexus.com/liver_diseases.htm

Health-Nexus.Net Health-Nexus.Org The #1 Health information site Home ... Wilson Disease Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Liver Diseases Categories Alagille Syndrome Glycogen Storage Disease Alcoholic Liver Disease Hemochromatosis ... American Liver Foundation national, voluntary nonprofit health agency dedicated to preventing, treating, and curing hepatitis and all liver diseases through research, education, and support groups. Division of Digestive and Liver Diseases - Diseases of the Liver Resource provides an alphabetical list of liver diseases and conditions with links to more detailed information. American Association for the Study of Liver Diseases (AASLD) NIH Consensus Development Conference Management of Hepatitis C: 2002 Important Drug Alerts .... Dr. Wu's Liver Diseases

27. A To Z Encyclopedia Topic: Alagille Syndrome Unfortunately, at this time, we are not able to provide informationabout this condition or procedure. However, we will be frequently http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Alagille Syndrome

28. Page 1 HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR All Rights Reserved2001. alagille syndrome. Introduction Infancy Childhood Puberty Adulthood. http://www.geocities.com/anaivette_morales/ALAGILLE/Page_1x.html

Continue This site is intended to complement professional advice HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR Alagille Syndrome Introduction Infancy Childhood Puberty ... References Master's Degree Project Genetic Counseling Program Brandeis University

29. Page 2 HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR All Rights Reserved 2001.alagille syndrome. ABOUT THE AUTHOR. Top of the Page. alagille syndrome Main Menu. http://www.geocities.com/anaivette_morales/ALAGILLE/Page_2x.html

This site is intended to complement professional advice HOME DISEASES ABOUT THIS WEBSITE ABOUT THE AUTHOR Alagille Syndrome ABOUT THE AUTHOR ABOUT THIS WEBSITE DISEASES HOME ... References INTRODUCTION Alagille syndrome is also known as Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia. Some of the most common problems associated with this condition are liver disease, heart disease, and problems in the spine, eyes, and kidneys. Although genetic testing is available for Alagille syndrome, the diagnosis is mainly based on clinical findings. GENETICS Alagille syndrome is caused by an alteration in a gene called JAG-1. This gene is located on chromosome 20 and it plays a role in early human development. The condition is inherited in an autosomal dominant fashion, which means that there is a

30. Alagille Syndrome : Meddie Health Search ITEMS LINKS alagille syndrome Alliance Worldwide support network for peoplewho care about people with alagille syndrome hosted by talkcity. http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Al

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Alagille Syndrome ITEMS: LINKS: Alagille Syndrome Alliance Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. (Rating: 0.00 Votes: 0) Rate It Children's Liver Alliance A description, the diagnosis, symptoms, treatment and complications of Alagille syndrome. (Rating: 0.00 Votes: 0) Rate It Dept. of Dermatology - University of Iowa College of Medicine Images of Alagille's Syndrome. (Rating: 0.00 Votes: 0) Rate It Pediatric Database A definition of Alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

31. Alagille (Watson) Syndrome (Arteriohepatic Dysplasia, [Hepatofacioneuro]cardiove Miller Syndrome). ARTERIOHEPATIC DYSPLASIA OR alagille syndrome; Alagillesyndrome; alagille syndrome; Syndrome Alliance; alagille syndrome. HOME http://www.bdid.com/alagille.htm

HOME Alagille (Watson) Syndrome (Arteriohepatic Dysplasia, [Hepatofacioneuro]cardiovertebral Syndrome, Watson Miller Syndrome) ARTERIOHEPATIC DYSPLASIA OR ALAGILLE SYNDROME Alagille syndrome Alagille Syndrome Alagille syndrome (AGS) ... HOME

32. Alagille Syndrome alagille syndrome UserName, Password. New Register, Patient was clinicallydiagnosed as a case of Arteriohepatic dysplasia or alagille syndrome. http://www.pediatriconcall.com/fordoctor/CaseReports/alagille_syndrome.asp

Question of day Alternative Medicine Journals Queries ... Shopping Mall ALAGILLE SYNDROME UserName Password New Register Dr Ira Shah M.D, DCH(Gold Medalist), FCPS, DNB Key words:- Arteriohepatic dysplasia , chronic cholestasis, pulmonary artery hypoplasia Introduction: Case :- 18 month old male child BONCM to normal parents presented with jaundice since 2 months of age, clay colored stools with high colored urine, and pruritis since l year. Patient was noticed to have cyanosis, which increased, on crying. He had dysmorphic features in form of deep-seated eyes, with prominent forehead and small pointed chin. Patient had hepatomegaly with 5cm palpable liver. He also had an ejection systolic murmur with soft and single second heart sound suggestive of tetralogy of fallot physiology. Patient was clinically diagnosed as a case of Arteriohepatic dysplasia or Alagille syndrome . 2 D echo showed subvalvalar pulmonary stenosis with left pulmonary artery not seen. USG Abdomen was suggestive of gall bladder sludge with hepatomegaly. His liver enzymes were elevated. There was hyperbilirubinemia with increased direct compound (2.4mg% D= 1.2 mg%). Serum cholesterol (316 mg%) and Triglyceride (352 mg%) were markedly elevated. Liver scan (HIDA) showed decreased excretion. Patient was advised cardiac catheterisation to assess the anatomical malformation and evaluate further treatment. Liver biopsy was not undertaken in this patient. He was treated with fat soluble vitamins, cholestyramine, ureodeoxycholic acid. His pruritis markedly subsided with above management. He was started on T. Propranalol for his cyanotic heart disease and discharged. He was advised surgery for heart disease and option for liver transplantation was explained.

33. ETenet - Library alagille syndrome. Definition. alagille syndrome is a disorder that mimics otherforms of prolonged liver disease in infants and young children. http://www.etenet.com/Apps/Library/Corporate.asp?ID=521

34. Health Library - Alagille Syndrome alagille syndrome. Synonyms Disorder Subdivisions General Discussion Resources AlagilleSyndrome is a genetic liver disorder usually present at birth. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

35. 227: ALAGILLE SYNDROME WITH HEMOCHROMATOSIS alagille syndrome WITH HEMOCHROMATOSIS. J Leonard, M Borgaonkar. A case report ofa patient with both alagille syndrome and hemochromatosis will be discussed. http://www.pulsus.com/cddw2003/abs/abs227.htm

ALAGILLE SYNDROME WITH HEMOCHROMATOSIS J Leonard , M Borgaonkar Department of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland A case report of a patient with both Alagille syndrome and hemochromatosis will be discussed. Alagille syndrome is a rare inherited condition of arteriohepatic dysplasia usually recognized within the first year of life. Jaundice and cholestasis resulting from biliary tract hypoplasia are the predominant features. Alagille syndrome may result in long-term complications including cirrhosis, hepatocellular carcinoma, and pancreatic insufficiency. Hemochromatosis is also a genetic disorder characterized by increased gut iron absorption. Eventually there can be iron deposition in several areas including the liver, heart, and pancreas leading to organ dysfunction. Until now, there have been no reports of a patient with both Alagille syndrome and hemochromatosis. This is the first case of a patient with both Alagille syndrome and hemochromatosis. This case represents an interesting association of two genetic disorders. Although almost certainly incidental, this association has never before been reported. NEXT ABSTRACT

36. Short Description Of Cell Lines. Pathology: Alagille Syndrome #118450 Version 4.200205, Short description of cell lines. Pathology Alagillesyndrome 118450 OMIM record. By selecting the cell line http://www.biotech.ist.unige.it/cldb/pat410.html

Version Short description of cell lines. Pathology: Alagille syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian lymphoblast GEIMM By Beatrice...

37. NORD - National Organization For Rare Disorders, Inc. alagille syndrome. To purchase fulltext report ($7.50) Copyright 1987, 1990,1996, 1998, 1999 Synonyms of alagille syndrome AHD; Arteriohepatic Dysplasia; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alagille Synd

38. SLUCare alagille syndrome. Definition. alagille syndrome is a disorder that mimics otherforms of prolonged liver disease in infants and young children. http://www.slucare.edu/patient/library/articles/521.shtml

Medical Terminology Library A B C D ... P Q R S T U ... W X Y Z Alagille Syndrome Definition Alagille syndrome is a disorder that mimics other forms of prolonged liver disease in infants and young children. However, a group of unusual features in other organ systems distinguishes Alagille syndrome from other liver and bile duct diseases in infants. It is also known as arteriohepatic dysplasia. (Back to Top) Description Children with Alagille syndrome usually have a liver disease characterized by a progressive loss of the bile ducts within the liver over the first year of life and narrowing of bile ducts outside the liver. This leads to a buildup of bile in the liver, causing damage to liver cells. Scarring may occur and lead to cirrhosis in about 30 to 50 percent of affected children. (Back to Top) Causes and Risk Factors Alagille syndrome is generally inherited from one parent and there is a 50 percent chance that each child will develop the syndrome. Each affected adult or child may have all or only a few of the features of the syndrome. Frequently, a parent or brother or sister of the affected child will share the facial appearance, heart murmur or butterfly vertebrae, but have a completely normal liver and bile ducts.

39. Rikshospitalet: Senter For Sjeldne Sykdommer Og Syndromer alagille syndrome. alagille syndrome may cause symptoms from various organs ofthe body. alagille syndrome develops differently from one person to another. http://ssss.oslonett.no/side.php?aid=227&s=english

40. Ask NOAH About: Liver, Gallbladder And Bile Duct Diseases Specific Diseases Alphabetical Search. A, B, C, D, E, F, G, H, J, L, P,T, W. alagille syndrome (See Liver, Gallbladder and Bile Duct Disease inChildren). http://www.noah-health.org/english/illness/gastro/liver.html

Ask NOAH About: Liver, Gallbladder and Bile Duct Diseases What are Liver, Gallbladder and Bile Duct Diseases? Care and Treatment The Basics Diagnosis and Symptoms Specific Diseases ... Information Resources What are Liver, Gallbladder and Bile Duct Diseases? The Basics About Your Liver - Canadian Liver Foundation (also in French 50 Ways to Love Your Liver - American Liver Foundation Gallbladder - MEDLINEplus Guide to Your Liver - British Liver Trust Information Service ... How Can You Love Me If You Don't Know Me? - American Liver Foundation (also in Spanish The Liver: A Primer - American Liver Foundation Anatomy Anatomy - Merck Manual The Biliary System - Methodist Healthcare System, Houston TX (also in Spanish Biology of the Liver and Gallbladder - Merck Manual Home Edition The Liver - Methodist Healthcare System, Houston TX (also in Spanish Where is the Liver Located in the Body? - Canadian Liver Foundation (also in French Glossaries Diagnosis and Symptoms of Liver, Gallbladder and Bile Duct Disease Clinical Manifestations of Liver Disease - Merck Manual Home Edition Common Characteristics of Liver Disease - Lehigh Valley Hospital, Allentown PA

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