41. Alagille Syndrome Liver. alagille syndrome. alagille syndrome is an inherited liver disease seenin infants and young children. alagille syndrome What is alagille syndrome? http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths

42. Digestive System Diseases List of resources organized by diseases provided for physicians and patients. List is developed by Category Health Medicine Medical Specialties Gastroenterology...... Fatty Liver, Cirrhosis, and Related Disorders Merck Manual. AlagilleSyndrome The alagille syndrome Alliance - (US); About Artheriohepatic http://www.mic.ki.se/Diseases/c6.html

search help staff Digestive System Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search MedlinePlus/Digestive at NCBI/NLM Brief overview of the Digestive System DR Johnson ] - University of Leeds (UK) Pathophysiology of the Digestive System - Colorado State University (US) A collection of Patient Pamphlets from Three Rivers Endoscopy C. (US) Documents on Digestive Diseases for patients - NIDDK (US) Patient Information about some Digestive Disorders - DDF (UK) Open for Discussion , a problem based learning program by Reynolds et al. - Univ of Calgary (CA) Notes on Cyber Gastroenterology JA Murra Saca Atlas Endoscopy of Digestive Disease F Sulbaran ] - (VE) Digestive Health Resource Center at the American Gastrenterological Association A warning about Colon cleansing - MayoClinic About Electrogastrography including the Anatomy of the Stomach - Univ. of Alberta (CA)

43. Alagille Syndrome - FISH Analysis alagille syndrome, FISH Analysis.The Kleberg Cytogenetics Laboratory offers afluorescence in situ hybridization (FISH)based assay for identifying the http://www.bcmgeneticlabs.org/tests/cyto/alagille.html

ALAGILLE SYNDROME FISH ANALYSIS The Kleberg Cytogenetics Laboratory offers a fluorescence in situ hybridization (FISH)-based assay for identifying the microdeletion on the short arm of chromosome 20 associated with Alagille Syndrome. Reasons for Referral: Alagille Syndrome is characterized by intrahepatic cholestasis and abnormalities of the heart, eye, vertebrae and kidney, as well as a characteristic facial appearance. Testing Methodology: FISH is the application of fluorescently labeled DNA molecules to metaphase chromosomes and interphase nuclei for the detection of chromosome abnormalities and alterations. It is a rapid, reliable and direct approach for identifying patients with microdeletions or microduplications. A small percentage of individuals with Alagille syndrome have microdeletions of 20p that can be detected by FISH(~ 6%). Specimen Requirements: Whole blood in sodium heparin (green-top) tubes: 1.0 -2.0 CC Adult/Child: Minimum 3.0 -5.0 CC

44. Alagille Syndrome (AGS) Syndrome, alagille syndrome (AGS). alagille syndrome has been referred toas a continuous gene syndrome provisionally mapped to 20p12.1p11.23. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome017.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome Alagille syndrome (AGS) Synonyms Alagille-Watson syndrome (AWS) Watson-Miller syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome cholestasis-peripheral pulmonary stenosis hepatic ductular hypoplasia hepatic ductular hypoplasia-multiple malformations syndrome hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts (PILBD) Summary Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). Major Features Head and neck: Prominent forehead, dysmorphic flat midface, prognathism, and pointed chin.

45. 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.org/alagille_syndrome.htm

Health-Nexus.Com Health-Nexus.Net 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...

46. Nature Publishing Group Article. Parental mosaicism of JAG1 mutations in families with alagille syndrome. Alagillesyndrome; JAG1 mutation; mosaicism; mild phenotype; chromosome 20. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n3/abs/5200613a

47. Nature Publishing Group Table of contents Previous Abstract Next Article PDF. Erratum. Parentalmosaicism of JAG1 mutations in families with alagille syndrome. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ejhg/journal/v9/n7/abs/5200671a

48. Centro Medico Teknon : Library Translate this page alagille syndrome Definition alagille syndrome is a disorder that mimicsother forms of prolonged liver disease in infants and young children. http://www.teknon.es/Library/Library.asp?563

49. Alagille Start Omhoog. Lever Alagille Engels. alagille syndrome (2); AlagilleSyndrome (3); alagille syndrome (4); alagille syndrome Families; http://www.xs4all.nl/~ritanila/alagille.html

Lever Alagille Engels Alagille Syndrome (2) Alagille Syndrome (3) Alagille Syndrome (4) Alagille Syndrome Families ... Support Group of Australia

50. University Of Miami School Of Medicine - Glossary - Alagille Syndrome alagille syndrome. Children with alagille syndrome usually present with jaundice(yellowing of the skin and whites of the eyes) in the newborn period. http://www.med.miami.edu/patients/glossary/art.asp?articlekey=6752

51. Alagille Syndrome alagille syndrome. 2000/6/21. ?. . alagille syndrome.Basic data. Chief complaint. Present illness. Present illness. http://www.vghtc.gov.tw:8082/ped/teaching/inout/GI/alagille syndrome/

52. Alagille Syndrome(arteriohepatic Dysplasia) alagille syndrome(arteriohepatic dysplasia). the the most common syndrome incorporatingintrahepatic bile duct paucity. progressive destruction of bile ducts. http://www.vghtc.gov.tw:8082/ped/teaching/inout/alagille syndrome/tsld002.htm

53. Service Page - Pathologie Information newsgroup. question to Orphanet. DISEASE Bile ducts paucity, syndromicform, Synonym(s) alagille syndrome Arteriohepatic dysplasia, CIM Q44.7, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=52

54. QIMR Website - Iron Metabolism Laboratory In keeping with our gastroenterological theme, investigations are also beingcarried out on the developmental liver disorder alagille syndrome. http://www.qimr.edu.au/research/labs/grega/

Iron Metabolism Laboratory Labhead: Dr Greg Anderson gregA@qimr.edu.au Staff Collaborators Key Publications ... Glossary gene and investigating the functional consequences of these mutations. Hephaestin and intestinal iron absorption We have recently mapped and cloned a novel membrane-bound ceruloplasmin homologue, called hephaestin, which plays a critical role in intestinal iron absorption. Hephaestin is defective in the sex-linked anaemic ( sla ) mouse, and it was analysis of this mouse strain that led to the identification of the gene. This protein is strongly expressed in the small intestine and is required for the movement of iron out of these cells and into the body, the so-called transfer step of iron absorption. We are currently investigating the synthesis, cellular biology and regulation of hephaestin in order to better understand its role in cellular iron efflux. Furthermore, we predict that hephaestin interacts with an iron transporter in order to move iron across membranes. A strong candidate for this role is the basolateral iron transport protein IREG1, and we are actively assessing the relationship between these two proteins. This work is being carried out in collaboration with Dr Christopher Vulpe of the University of California, Berkeley and Dr Andrew McKie at the Rayne Institute in London. Regulation of iron absorption Iron metabolism in neurological disorders Iron accumulation in the brain is found in a number of neurological disorders and is likely to play an important role in the pathogenesis of these diseases. This field represents a new interest for our group and our current studies are centred on the progressive degenerative neurological disease Friedreich ataxia (FRDA). A role for the protein affected in FRDA, frataxin, in mitochondrial iron accumulation has been proposed, and we are investigating this relationship. To strengthen our base in this research field, we have recently commenced collaborative studies with Dr Stephen Robinson at Monash University in Melbourne to characterise the mechanisms of excess iron deposition in Alzheimer's disease.

55. Pediatric Cardiology alagille syndrome. This is also known as arteriohepatic dysplasia.It is a disease mainly of the liver which results in a decreased http://www.ucch.org/sections/cardio/new/alagille.html

Sections/Specialties Palos Heights Merrillville La Rabida [Return to main] Alagille Syndrome This is also known as arteriohepatic dysplasia. It is a disease mainly of the liver which results in a decreased number of tubes (ducts) which usually allow the liver to get rid of a substance known as bile. There is also progressive destruction of the bile ducts. The end result is that bile accumulates within the liver and yellowness of the skin (jaundice) results since the liver cannot get rid of a substance called bilirubin which is one of the components in bile. There are a number of features common to people with Allagile syndrome. They may have a broad forehead with deep set and widely spaced eyes. They may have an underdeveloped mandible, eye abnormalities, abnormalities of the spine, kidney abnormalities, and cardiac abnormalities. The cardiac abnormalities are usually narrowing of the pulmonary arteries (peripheral pulmonary stenosis) which may require a cardiac intervention (such as stenting and dilation). Occasionally, another defect known as

56. Pediatric Cardiology Index of Syndromes alagille syndrome DiGeorge syndrome Downs syndrome Marfan syndromeNoonans syndrome Tuberous sclerosis Turners syndrome Williams syndrome http://www.ucch.org/sections/cardio/new/congenital.html

Sections/Specialties Palos Heights Merrillville La Rabida [Return to main] What causes congenital cardiovascular defects? Congenital cardiovascular defects are present in about one percent of live births. They're among the most common congenital malformations in newborns. In most cases scientists don't know why they occur. Sometimes a viral infection causes serious problems. German measles (also called rubella) is an example. If a woman contracts German measles while pregnant, it can interfere with how her baby's heart develops or produce other malformations. Other viral diseases also may cause congenital defects. Heredity sometimes plays a role in congenital cardiovascular disease. More than one child in a family may have a congenital cardiovascular defect, but this rarely occurs. Certain conditions affecting multiple organs, such as Down's syndrome , can involve the heart, too. Some prescription drugs and over-the-counter medicines, as well as alcohol and "street" drugs, may increase the risk of having a baby with a heart defect. Other factors that affect the heart's development are under study. The fact is, we don't know what causes most congenital cardiovascular defects.

57. Health Library - Alagille Syndrome alagille syndrome. Self Help Clearinghouse. alagille syndrome Alliance.National network. Founded 1993.Support network http://bhagh.nhshealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29ala

58. Alagille Syndrome - General Practice Notebook medical information from General Practice Notebook. alagille syndrome. Alagillesyndrome is defined clinically as the combination of biliary hypoplasia; http://www.gpnotebook.co.uk/cache/-650837994.htm

Alagille syndrome Alagille syndrome is defined clinically as the combination of: biliary hypoplasia cardiovascular abnormalities vertebral abnormalities characteristic facies ocular abnormalities The degree of biliary hypoplasia is variable. Some patients have severe cholestasis, progress to cirrhosis and require liver transplantation. Click here for more information...

59. Health Library - Alagille Syndrome alagille syndrome. Self Help Clearinghouse. alagille syndrome Alliance.National network. Founded 1993.Support network http://yalenewhavenhealth.org/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29a

60. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details Positional Cloning of the Gene(s) Responsible for alagille syndrome. Thisstudy is completed. Sponsored Syndrome. Condition. alagille syndrome. http://www.clinicaltrials.gov/ct/gui/show/NCT00001642?order=28

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