Disclaimer - Electronic Collection In alagille syndrome, there is invariably a reduced ratio of interlobular bile The association of alagille syndrome with a deletion of the short arm of http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
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Alagille Syndrome alagille syndrome is an autosomal dominant, multisystem disorder with variable Syndromic paucity of interlobular bile ducts (alagille syndrome or http://www.humpath.com/article.php3?id_article=111
Alagille Syndrome - St. Joseph Mercy, Ann Arbor Michigan alagille syndrome St. Joseph Mercy Health System Hospitals serving Ann Arbor,SE Michigan, Washtenaw County, Livingston County, Wayne County, http://www.sjmercyhealth.org/12372.cfm
Extractions: @import url(default.css); Online Health Information Back to Health Library Print This Page Email to a Friend Alagille Syndrome Alliance This information is provided as a resource and does not constitute an endorsement for any group. It is the responsibility of the reader to decide whether a group is appropriate for his/her needs. For evidence-based information on diseases, conditions, symptoms, treatment and wellness issues, continue searching this site. National network. Founded 1993.
Glossary Of Genetic Terms alagille syndrome . defined, A rare inherited liver disorder seen in infantsand young children. The disease is characterized by a buildup of bile in http://life.fudan.edu.cn/inforservice/dictionary/Glossary/Alagille.htm
Blackwell Synergy - Cookie Absent alagille syndrome Cutaneous Manifestations in 38 Children During the 1990s,38 children with alagille syndrome were evaluated at two pediatric centers http://www.blackwell-synergy.com/doi/abs/10.1111/j.1525-1470.2005.22102.x
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UCLiC - Cholestatic Liver Disease Consortium alagille syndrome Alpha1 Antitrypsin Deficiency Bile Acid Synthesis alagille syndrome. The Cholestatic Liver Disease Consortium is committed to http://rdcrn.epi.usf.edu/clic/learnmore/alagille.htm
Extractions: CLiC Cholestatic Liver Disease Consortium What is CLiC? Learn More Diseases We Study Glossary ... PFIC (Progressive Familial Intrahepatic Cholestasis) The Cholestatic Liver Disease Consortium is committed to providing timely and useful information to both patients and physicians. Currently, this page is being updated in order to bring you the most up-to-date information. Please check back soon! Join the Registry for this Disorder Find a Study Advocacy Groups for Mitochondrial Hepatopathies Back to Menu ... Return to RDCRN Main Page
GEMdatabase - Selected Title TITLE, alagille syndrome. DESCRIPTION, This review focuses on the diagnosis, and genetic counseling of patients and families with alagille syndrome. http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=819
Alagille Syndrome alagille syndrome. Definition. alagille syndrome is a genetic disorder that mimicsother alagille syndrome was first described in 1969 by D. Alagille, http://ww2.wfaa.com/global/story.asp?s=1230375&ClientType=Printable
Liver Syndrome Arteriohepatic Dysplasia (Alagille Syndrome) alagille syndrome is a genetic condition affecting 1 in 70000 newborns.Generally presenting in infancy, this condition is often misdiagnosed as biliary http://www.fairviewtransplant.org/liver/Alagille.asp
Extractions: Liver Disorders Transplant Services Website Arteriohepatic Dysplasia (Alagille Syndrome) Alagille syndrome is a genetic condition affecting 1 in 70,000 newborns. Generally presenting in infancy, this condition is often misdiagnosed as biliary atresia. Occasionally, it can escape medical attention until school age, where it appears as xanthomata (fibrous, fatty tissue or nodules under the skin) or pruritis (itching). Jaundice may or may not be present. The syndrome is marked by five major features, several of which must be present for diagnosis: cholestatic liver disease, congenital heart disease, vertebral and/or long bone anomalies, ophthalmic (eye) abnormalities and peculiar facies (facial features), such as deep-set eyes and an oversized brow. There is a 50 percent chance that people with this syndrome will pass it to their children. A prenatal diagnosis is not available.
Childrens Liver Disease Foundation diseases. About this section alagille syndrome. alagille syndrome This syndrometakes its name from Professor Alagille in France. http://www.childliverdisease.org/diseases/alagille
Extractions: Alagille Syndrome is the name given to a particular type of liver condition called biliary hypoplasia in association with at least two or other signs in other parts of the body (see below). Alagille Syndrome affects approximately one child in every 100,000 live births and occurs equally between boys and girls. This syndrome takes its name from Professor Alagille in France. He was one of the first people to recognise it in 1975. It is also sometimes called Arterio-Hepatic Dysplasia or Syndromic biliary hypoplasia.
Nature Genetics alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand alagille syndrome is an autosomal dominant disorder characterized by http://www.nature.com/ng/wilma/v16n3.866645811.html
Extractions: 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.
ATLAS- Alagille SYNDROME D ALAGILLE . alagille syndrome Additional images from the web.Xanthoma in Alagille Hand xanthoma in Alagille. http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas2.htm
Extractions: SYNDROME D'ALAGILLE . ALAGILLE SYNDROME Front Large, visage triangulaire Large forehead, triangular face Xanthoma due to hypercholesterolemia Paucity: absence of bile canalicule Flat face, high pitched voice Same child as in previous frame, 7 years later. Short stature, pruritus responding to Rifampycin, moderately abnormal LFT's. Additional images from the web: Xanthoma in Alagille
Alagille's Syndrome Images of alagille's syndrome. http://tray.dermatology.uiowa.edu/Alagil01.htm
Alagille's Syndrome - 3 alagille s syndrome / Arteriohepatic Dysplasia Palmar Hand - Xanthomata.For more information, see the American Liver Foundation and Online Mendelian http://tray.dermatology.uiowa.edu/Alagil03.htm
Alagille's Syndrome (www.whonamedit.com) alagille s syndrome A congenital familial syndrome marked by clinical picturewith intrahepatic cholestasis, neonatal jaundice, and hepatomegaly. http://www.whonamedit.com/synd.cfm/729.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. Arterio-hepatic dysplasia, cardiovertebral syndrome, cholestasis-peripheral pulmonary stenosis, cholestasis-pulmonary artery stenosis, cholestasis with peripheral pulmonary stenosis, hepatic ductular hypoplasia, hepatic ductal hypoplasia-multiple malformations syndrome, hepatofacial-neurocardiac-vertebral syndrome, cholestasis-pulmonary artery stenosis syndrome, hepatofacioneurocardiovertebral syndrome, paucity of interlobular ducts.
Extractions: Alagille, syndrome Définition [MeSH Scope Note ; traduction CISMeF] : Hypoplasie des canaux hépatiques, sténose congénitale de lartère pulmonaire, anomalies faciales et autres malformations congénitales, notamment squelettiques. Se manifeste souvent comme un ictère pendant la période néonatale. Cest une maladie autosomique récessive qui en général se manifeste dans lenfance. Le terme « artériohépatique » se réfère á lartère pulmonaire et aux canaux biliaires intrahépatiques et non á lartère hépatique.
Penn State Faculty Research Expertise Database (FRED) alagilleWatson syndrome, Cholestasis with Peripheral Pulmonary Stenosis.Hepatic Ductular Hypoplasia, Syndromatic, alagille Watson syndrome http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D016738
