1. The Official Website Of The Alagille Syndrome Alliance The official alagille syndrome Alliance Worldwide Web Site. This page includes extensive Alliance, Cindy L. Hahn. The alagille syndrome Alliance. http://www.alagille.org/

The Alagille Syndrome Alliance Welcome to the offical website of the Alagille Syndrome Alliance! We are glad you found us. Take a look around the site and please sign our guestbook. Join the AGS chat Come join the fun with our host, Joe Anderson! Our chatroom sessions are now utilizing the C.L.A.S.S. server. ... AGS chat home page Next chat session: Date: Sunday June 5th Time: 6 p.m. Pacific Standard Time (PST) Hosted by: Joe Anderson (AGS Board Member). 2004 Transplant Family Picnic Do you live close to Greenbay, Wisconsin? Would you like to spend a fun time with some AGS families? If you answered yes to these questions, plan on heading to Greenbay this Saturday - June 5th. For more information email Shawn Curry at Gacurrycrew@aol.com The AGS Family Map Do you want to be added to our AGS family map? If you do, please email us at agswebmaster@alagille.org. In your email, please specify how you want your name, location and email to appear on the map. Thanks very much! Cheeky Monkey Toys Cheeky Monkey Toys is now donating toys for care packages for AGS kids who are hospitalized or feeling under the weather. Check out their

2. NORD - National Organization For Rare Disorders, Inc. The synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alagille Synd

3. Alagille Syndrome, Cincinnati Children's Hospital Medical Center A rare inherited disorder in which there are fewer than normal bile ducts in the liver. Information by Cincinnati Children's Hospital Medical Center. http://www.cincinnatichildrens.org/svc/prog/liver/diseases/alagilles-syndrome.ht

Home Contact Us Site Map Go to Advanced Search ... Acute Liver Failure Alagille Syndrome Alpha-1 Antitrypsin Deficiency Autoimmune Hepatitis Biliary Atresia Gylcogen Storage Disease (GSD) ... Contact Us Liver Diseases and Treatments Alagille Syndrome Related Services Liver Care Center Explanation Alagille Syndrome Causes Symptoms l Diagnosis l Alagille Syndrome Treatment l Prognosis What is alagille syndrome? Alagille syndrome is a rare, inherited disorder in which there are fewer than normal bile ducts in the liver Alagille syndrome is a disorder that often affects the liver and other organs, including the heart, eyes, spine and kidneys. Often, patients with alagille syndrome have distinctive facial appearances. A small number of patients (about 15%) go on to develop severe liver disease and require liver liver transplantation This disorder is usually present at birth. Alagille syndrome is one of the most common inherited disorders that causes reduced bile flow within the liver. It occurs about once in every 100,000 births. Back to Top What are the causes of alagille syndrome?

4. Alagille's Syndrome Discussion of the genetics, clinical presentation, natural history, and treatment of Alagille's syndrome. http://www.ikp.unibe.ch/lab2/Alagille.htm

Alagille's syndrome Prof. J. Reichen First described by Alagille in 1969, reported in the English literature in 1975 (1). Synonyms: arteriohepatic dysplasia, syndromatic ductopenia. Genetics: Autosomal dominant disorder owing to mutations in the JAG1 gene on chromosome 20p12 (2;3). JAG1 codes for a NOTCH receptor ligand important in cell-cell interactions and in development. Different mutations have been described 70 % of which are sporadic (4). During embroygenesis JAG1 is expressed mainly in the cardiovascular system; in the liver it is associated with blood vessels. It is also expressed in other structures of mesenchymal origin suggesting that the variety of associated conditions are not chance associations (5). Clinical presentation, associated features: The classical syndrome consists of jaundice in early infancy, characteristic facies, pulmonary stenosis, butterfly vertebrae, growth and mental retardation and hypogonadism (1). In Emerick's series, 40 % had renal disease and stroke occurred in 14 % (6). The growth retardation is due to resistance to GH (7). Severe pruritus occurs in 45 % but can abate with age (6). Besides posterior embryotoxon a variety of other ocular anomalities have been described (8). Table 1 Frequency of main signs of Alagille's syndrome in the two largest series Alagille (9) (n= 80) Emerick (6) (n=92) Chronic cholestasis Characteristic facies Systolic murmur Butterfly vertebrae Posterior embryotoxon Other associated conditions include congenital mechanical obstruction of the small intestine (10), cystic renal disease (11), tubulo-interstitial nephropathy (12), exocrine pancreatic insufficiency (13), pancreas atrophy with diabetes mellitus (14), coproporphyrin abnormalities with photosensitivity (15).

5. Alagille Syndrome / The Family Village Search Google for "alagille syndrome" Who to Contact. alagille syndrome Alliance ASA mission is to provide information about alagille syndrome, networking services, and a forum for 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.

6. EMedicine - Alagille Syndrome : Article By Ann Scheimann, MD alagille syndrome alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, kidneys, and characteristic facial growth hormone-binding protein in children with alagille syndrome and short stature http://www.emedicine.com/ped/topic60.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology Alagille Syndrome Last Updated: July 11, 2003 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, Associate Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia, University of Pennsylvania; Robert Konop, PharmD

7. Alagille Syndrome alagille syndrome. alagille syndrome Alliance. 10630 SW Garden Park Place. Tigard, OR 97223. Phone (503) 6396217 Contact Cindy L Hahn. Online Resouces American Liver Foundation. Also See 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. SupportPath.com: Alagille Syndrome SupportPath.com leads you to Internet resources for supportrelated information on hundreds of health, personal, and relationship topics. alagille syndrome. Also called Arterio-hepatic dysplasia 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... INTERNATIONAL Genetic Alliance Website: http://www.geneticalliance.org/

9. ALAGILLE SYNDROME alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in other organ systems distinguishes alagille syndrome from other liver and bile 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.

10. The Official Website Of The Alagille Syndrome Alliance - Contact Us The official alagille syndrome Alliance Worldwide Web Site. This page includes extensive information about alagille syndrome and http://www.alagille.org/contact.html

Contact Us Contacting the Alliance Please contact us if you move or if your email address changes. Your help in keeping our records current is appreciated! You can contact the Alliance at the following address: Cindy L. Hahn, Director Alagille Syndrome Alliance 10630 S.W. Garden Park Place Tigard, OR 97223 Phone: (503) 639-6217 Email: alagille@earthlink.net No faxes please. The best time to call is after 2 p.m. Pacific time, Monday-Friday, or on weekends. Please do not call after 10 p.m. Pacific time. Contacting the Board of Directors The Alagille Syndrome Alliance board member contact information is shown below. Please feel free to contact any one of us via email with comments or questions. Joseph M. Anderson Email: janderson@alagille.org Elizabeth A. Caldwell Email: brcaldwell@alagille.org Richard Caldwell Email: brcaldwell@alagille.org Patti H. Everett Email: peverett@alagille.org Erik Luxhoj Email: eluxhoj@alagille.org Brenda Garza Email: bgarza@alagille.org You can also email the whole board at once: Email all the board members.

11. Alagille Syndrome Disease characteristics. alagille syndrome (AGS) is a complex, dominantly inherited multisystem disorder The diagnosis of alagille syndrome is primarily based on clinical findings http://www.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 Binita M Kamath, MBBChir About the Authors / Author History Initial Posting: 19 May 2000 Last Revision 2 February 2004 Summary Disease characteristics. Alagille syndrome (AGS) is a complex, dominantly inherited multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The major clinical manifestations of AGS are cholestasis, characterized by bile duct paucity on liver biopsy; congenital cardiac defects, primarily involving the pulmonary arteries; posterior embryotoxon in the eye; typical facial features; and butterfly vertebrae. Renal and central nervous abnormalities also occur. The clinical features are highly variable, even within families. Diagnosis/testing. The diagnosis of Alagille syndrome is primarily based on clinical findings. Sequence analysis of the gene , available on a clinical basis, detects mutations in approximately 70% of individuals who meet clinical diagnostic criteria and is therefore only useful in certain circumstances. Fluorescence

12. GeneReviews: Alagille Syndrome 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. 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.

13. Pediatric Database A definition of alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. http://www.icondata.com/health/pedbase/files/ALAGILLE.HTM

14. Alagille Syndrome, Cincinnati Children's Hospital Medical Center alagille syndrome is an inherited disorder in which there are fewer than normal bile ducts in the liver information by Cincinnati Children s Hospital Medical http://www.cincinnatichildrens.org/health/info/liver/diagnoses/alagille.htm

Home Contact Us Site Map Go to Advanced Search ... Acute Liver Failure Alagille Syndrome Alpha-1 Antitrypsin Deficiency Autoimmune Hepatitis Biliary Atresia Gylcogen Storage Disease (GSD) ... Contact Us Liver Diseases and Treatments Alagille Syndrome Related Services Liver Care Center Explanation Alagille Syndrome Causes Symptoms l Diagnosis l Alagille Syndrome Treatment l Prognosis What is alagille syndrome? Alagille syndrome is a rare, inherited disorder in which there are fewer than normal bile ducts in the liver Alagille syndrome is a disorder that often affects the liver and other organs, including the heart, eyes, spine and kidneys. Often, patients with alagille syndrome have distinctive facial appearances. A small number of patients (about 15%) go on to develop severe liver disease and require liver liver transplantation This disorder is usually present at birth. Alagille syndrome is one of the most common inherited disorders that causes reduced bile flow within the liver. It occurs about once in every 100,000 births. Back to Top What are the causes of alagille syndrome?

15. Alagille Syndrome - C.L.A.S.S. alagille syndrome. What is alagille syndrome? alagille syndrome is a multisystem 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.

16. Children's Liver Alliance A description, the diagnosis, symptoms, treatment and complications of alagille syndrome. http://www.liverkids.org.au/falagille.htm

17. What Is Alagille Syndrome? - Liver Health Information - The American Liver Found What is alagille syndrome? alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children. http://www.liverfoundation.org/db/articles/1010

Liver Health Articles Liver Health Links Patient Stories PDF Newsletter ... Publications What is Alagille Syndrome? 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% of affected children. What are the Symptoms of Alagille? 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 four and ten 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 (murmurs) but rarely problems in heart function. The shape of the bones of the spinal column may look like the wings of a butterfly on x-ray but almost never cause any problems with function of the nerves in the spinal cord.

18. OMIM - ALAGILLE SYNDROME; AGS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450

19. Entrez PubMed Click here to read alagille syndrome and the Jagged1 gene. Genetic studies have demonstrated the range of defects in JAG1 that cause alagille syndrome. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

20. 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 Yes 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: Wed Apr 28 2004

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