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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. The Official Website Of The Alagille Syndrome Alliance
Worldwide support network for people who care about people with alagille syndrome.
http://www.alagille.org/
d.write(""); 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.
Kaylee's spirit shines brightly
At 2 weeks old Kaylee Wood was admitted to a local hospital. She had not gained any weight and was also very jaundiced... more Great times at Symposium 2005
We took a lot of great pictures at the symposium this year.
Take a look at the weekend's activities... more 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. Access the chatroom from our chat home page ( AGS chat home page This week's chat session: Date: Sunday September 18th Time: 6 p.m. Pacific Standard Time (PST) Hosted by: Joe Anderson (AGS Director). Next week's chat session: Date: Sunday September 25th Time: 6 p.m. Pacific Standard Time (PST) Hosted by: Joe Anderson (AGS Director). AGS in the Classroom Booklet View and print the AGS in the classroom booklet now! CAUTION!!

2. 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).

3. 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

4. Alagille Syndrome
A description, the diagnosis, symptoms, treatment and complications of alagille syndrome.
http://www.liverkids.org.au/alagille.htm

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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.

5. ALAGILLE SYNDROME CASE REPORTS PEDIATRIC ONCALL
Offers an introduction to alagille syndrome and a case study.
http://www.pediatriconcall.com/fordoctor/casereports/alagille_syndrome.asp
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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.

6. The Official Website Of The Alagille Syndrome Alliance
Worldwide support network for people who care about people with alagille syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. The Official Website Of The Alagille Syndrome Alliance - Medical Information
The official website of the alagille syndrome Alliance. This site includesinformation about alagille syndrome and much more.
http://www.alagille.org/medical.html
Medical Information
Description of AGS
Follow the indicated link for excellent information
about what AGS is and all of its symptoms.
Link to description of AGS.
More medical information on AGS
Here are two more links that give additional medical
information about AGS.
Emedicine's description of AGS.

Cincinnati Children's Medical Center description of AGS.

AGS growth charts
There are four AGS growth charts available for download. To view a chart, click on it. You will then be able to print the chart as well. You may also right click and save the file to your computer. Let me know if you have problems. Female - length vs. age Female - weight vs. age Male - length vs. age Male - weight vs. age ... Medical information from old site IMPORTANT! Please Read: In order to view the medical pdf above correctly, you will need Acrobat Reader version 5.0 or higher. Click on the following link to go to Adobe's download page. Once you have reader 5.0 or higher, click on the medical info link to view the file.

8. What Is Alagille Syndrome? - Liver Health Information - The
alagille syndrome is an inherited disorder that mimics other forms of prolonged liver disease seen in infants and young children.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. 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 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?
Recent studies have discovered that defects of a specific gene cause alagille syndrome. The disease usually is inherited from one parent.

10. Alagille's Syndrome
Images of Alagille's Syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Alagille Syndrome - C.L.A.S.S.
Diagnosis and treatment of alagille syndrome. alagille syndrome is namedafter the French pediatric liver specialist who first recognized the 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. Alagille's Syndrome - 3
Alagille's Syndrome / Arteriohepatic Dysplasia Palmar Hand - Xanthomata
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. 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 Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology
Alagille Syndrome
Last Updated: June 27, 2005 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

14. Alagille Syndrome - C.L.A.S.S.
Diagnosis and treatment of alagille syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. OMIM - ALAGILLE SYNDROME; AGS

http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450

16. 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
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Entrez PubMed
alagille syndrome is an autosomal dominant disorder characterized by abnormaldevelopment of liver, heart, skeleton, eye, face and, less frequently, kidney.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

18. Alagille Syndrome
Discussion of the genetics, clinical presentation, natural history, and treatment of Alagille's syndrome.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. Alagille Syndrome, Cincinnati Children's Hospital Medical Center
alagille syndrome is an inherited disorder in which there are fewer than normalbile ducts in the liver information by Cincinnati Children s Hospital
http://www.cincinnatichildrens.org/svc/alpha/l/liver/diseases/alagille-syndrome.
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 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?
Recent studies have discovered that defects of a specific gene cause alagille syndrome. The disease usually is inherited from one parent.

20. Alagille Syndrome / The Family Village
Who to Contact Where to Go to Chat with Others Learn More About It Web Sites Search Google for "alagille syndrome"
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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