81. The Health Library — Digestive System alagille syndrome. alagille syndromeChildren's Liver Association for SupportServices. What Is alagille syndrome?American Liver Foundation. http://healthlibrary.stanford.edu/resources/internet/bodysystems/digestive4.html

Diseases and Disorders Use these links to jump directly to your topic of interest: Abdominal Pain Anal and Rectal Disease Anatomy Appendicitis ... Vomiting Digestive System: Page 1 Page 2 Page 3 Page 4 Page 5 Gallbladder and Bile Duct Diseases Gallbladder and Bile Duct Diseases:MEDLINEplus Bile Duct Diseases Bile Duct Cancer, see Cancer, Bile Duct Cancer Bile Reflux:Mayo Clinic Choledocholithiasis (Bile Duct Stones):Merck Manual Primary Sclerosing Cholangitis:NIDDK ... Primary Sclerosing Cholangitis: Mayo Clinic Gallbladder Diseases Cholecystitis (Gall Bladder Inflammation):Merck Manual Gallbladder Cancer, see Cancer, Gallbladder Cancer Gallstones:NIDDK Gallbladder Surgery Treatment of Gallstone and Gallbladder Disease:Society for Surgery of the Alimentary Tract About Cholecystectomy (Surgical Removal of the Gall Bladder):American College of Surgeons Laparoscopic Cholecystectomy:Society of American Gastrointestinal Endoscopic Surgeons Liver Diseases Liver Diseases (General):MEDLINEplus How the Liver Works:Lucile Packard Children's Hospital What are the Diseases That Affect the Liver?:American Liver Foundation The Liver Disorders Sourcebook:netLibrary ... Preventive Strategies in Chronic Liver Disease:American Academy of Family Physicians Alagille Syndrome Alagille Syndrome:Children's Liver Association for Support Services What Is Alagille Syndrome?:American Liver Foundation

82. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Sites alagille syndrome Alliance Worldwide support network for peoplewho care about people with alagille syndrome hosted by talkcity. http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Genetic Disorders : Alagille Syndrome See also: Health: Conditions and Diseases: Digestive Disorders: Liver Health: Conditions and Diseases: Rare Disorders Sites: Alagille Syndrome - Discussion of the genetics, clinical presentation, natural history, and treatment of Alagille's syndrome. Alagille Syndrome Alliance - Worldwide support network for people who care about people with alagille syndrome hosted by talkcity. Children's Liver Alliance - A description, the diagnosis, symptoms, treatment and complications of Alagille syndrome. Dept. of Dermatology - University of Iowa College of Medicine - Images of Alagille's Syndrome. NORD - Alagille Syndrome - The synonyms, a general discussion and further resources. Pediatric Database - A definition of Alagille syndrome, the epidemiology, pathogenesis, clinical features, investigations and management. Last update: 18:24 PT, Thursday, March 20, 2003

83. Directory :: Look.com alagille syndrome (5) See Also. alagille syndrome Alliance Worldwide support networkfor people who care about people with alagille syndrome hosted by talkcity. http://www.look.com/searchroute/directorysearch.asp?p=550333

84. ATLAS- Alagille ATLAS PEDIATRIE. alagille syndrome. INDEX. SYNDROME D'ALAGILLE . alagille syndrome,Front Large, visage triangulaire. Large forehead, triangular face. http://www.icampus.ucl.ac.be/PEDIHEPA/document/pedihepa/atlas2.htm

ATLAS PEDIATRIE Alagille syndrome INDEX 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 Hand xanthoma in Alagille

85. Thomas Gridley Staff Research Page - The Jackson Laboratory disease syndromes. One of these syndromes is alagille syndrome, whichis caused by mutations in the jagged 1 (JAG1) gene. In an http://www.jax.org/staff/thomas_gridley.html

Thomas Gridley, Ph.D., Senior Staff Scientist Email: gridley@jax.org Phone: Lab Staff: Postdoctoral Fellows: Ethan Carver, Ph.D., Amy Kiernan, Ph.D., Luke Krebs, Ph.D., Brent McCright, Ph.D. Professional Assistant: Christine Norton, B.S. Research Assistants: Julie Lozier, B.S., Kathleen Oram, B.S., Calah Tenney, B.S. Research: Genetic Analysis of Mouse Development and Disease The main interest of our laboratory is the study of genes important for embryonic development in mice, and the connections between mutations in these genes and congenital human disease syndromes. Our analyses focus on a developmental signaling pathway termed the Notch pathway, and on genes of the Snail family, which encode zinc finger-containing transcriptional repressors. Analysis of the Notch Signaling Pathway The Notch signaling pathway is an evolutionarily conserved intercellular signaling mechanism. Genes of the Notch family encode transmembrane receptors that interact with membrane-bound ligands encoded by Delta/Serrate/Jagged family genes. The signal induced by ligand binding is transmitted intracellularly by a process involving proteolytic cleavage of the receptor and nuclear translocation of the intracellular domain of the Notch protein. Genes of the Notch signaling pathway have been cloned from numerous vertebrate organisms, and many are essential for normal embryonic development. In humans, mutations in genes encoding components of the Notch signaling pathway are found in one type of cancer and in three inherited disease syndromes. One of these syndromes is Alagille syndrome, which is caused by mutations in the jagged 1 (

86. Alagille Syndrome Founded 1993. Support network for anyone who cares about people with alagille syndrome,a genetic liver disorder. alagille syndrome. alagille syndrome Alliance. http://www.bchealthguide.org/kbase/shc/shc29ala.htm

document.write(''); var hwPrint=1; var hwDocHWID="shc29ala"; var hwDocTitle="Alagille Syndrome"; var hwRank="1"; var hwSectionHWID="shc29ala"; var hwSectionTitle=""; var hwSource="cn1.6"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="SHC"; Self Help Clearinghouse Alagille Syndrome Alagille Syndrome Alliance National network. Founded 1993. Support network for anyone who cares about people with Alagille syndrome, a genetic liver disorder. Disseminates information. Aims to increase awareness in health professionals. Newsletter, phone support, information and referrals, scientific advisory board. WRITE: Alagille Syndrome Alliance c/o Cindy L. Hahn 10630 S.W. Garden Park Pl. Tigard, OR 97223 CALL: (503)639-6217 (day/eve) E-MAIL: alagille@earthlink.net WEBSITE: http://www.alagille.org VERIFIED: 2/6/2002 This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information. For more information, click here How this information was developed Topic Contents Alagille Syndrome Alliance

87. Indian Pediatrics - Editorial One baby had classical features of alagille syndrome – growth failure, abnormalfacies, posterior embryotoxon, peripheral pulmonic stenosis and butterfly http://www.indianpediatrics.net/dec2001/dec-1430-1431.htm

Home Past Issue About IP About IAP ... Subscription Letters to the Editor Indian Pediatrics 2001; 38: 1430-1431 Bile Duct Paucity – Making a Case for Liver Biopsy in the Investigation of Neonatal Cholestasis Bile Duct Paucity (BDP) (syndromic – Alagille and non syndromic) is a well recognized, although uncommon cause of neonatal cholestasis(1-3). As the clinical presentation can closely resemble extra hepatic biliary atresia, BDP will be missed unless an infant with Neonatal Cholestasis (NC) undergoes a comprehensive work up including a liver biopsy. We present our experience of 5 cases seen over 3 years. A. Sibal, U. Mishra, Apollo Center for Advanced Pediatrics, Indraprastha Apollo Hospital, Sarita Vihar, New Delhi, India. References 1. Alagille D, Odievre M, Gautier M, Dommergues JP. Hepatic ductular hypoplasia associated with characterisitc facies, vertebral malformations, retarded physical, mental and sexual development and cardiac murmur. J Pediatr 1975; 86: 63-71. 2. Alagille D. Management of paucity of interlobular bile ducts. J Hepatol 1985; 1: 561-565.

88. Alagille's Syndrome - 3 Dept. of Dermatology University of Iowa College of Medicine. alagille'sSyndrome / Arteriohepatic Dysplasia - Palmar Hand - Xanthomata. http://tray.dermatology.uiowa.edu/Alagil03.htm

Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Palmar Hand - Xanthomata For more information, see the American Liver Foundation and Online Mendelian Inheritance in Man (OMIM) Return to Image Index page. Return to Image Index page. Return to Dermatology's Home page. January, 1996

89. Alagille's Syndrome of clinical features, genetics and treatment of alagille'ssyndrome. alagille's syndrome Prof. J. Reichen First described...... 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).

90. Alagille, Syndrome : Arborescences MeSH Translate this page alagille, syndrome. alagille, syndrome C06.130.450.250.125 page CISMeF dumotclef cirrhose biliaire C06.130.450.250.250 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navialagillesyndrome.html

Alagille, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil digestif, maladies voies biliaires, maladies cholestase cholestase intra-hépatique ... Zellweger, syndrome 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

91. 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

Home List categories Eponyms A-Z Biographies by country ... Contact Alagille's syndrome Also known as: Watson-Miller syndrome Synonyms: 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. Associated persons: Daniel Alagille V. Miller Geoffrey H. Watson Description: A congenital familial syndrome with onset during first three months of life, affecting both sexes. Marked by clinical picture with intrahepatic cholestasis due to hypoplasia of the interlobular biliary duct, neonatal jaundice, hepatomegaly (from 3rd month). Long list of symptoms include dysmorphic (flat) facies sometimes referred to as cholestasis facies, with prominent forehead, mongoloid slant, mild hypertelorism, straight or bulbous nose, and skeletal anomalies; occasionally diffuse xanthomas (palms, extensor areas, creases), and pruritus, Harsh mesosystolic murmur. Growth and mental retardation. In males, hypogonadism. Etiology unknown. Inheritance is autosomal dominant with reduced penetrance and variable expressivity. Bibliography: G. H. Watson, V. Miller:

92. Daniel Alagille (www.whonamedit.com) Daniel alagille French paediatrician, born January 24, 1925,Paris. Associated with alagille's syndrome. Who named it? http://www.whonamedit.com/doctor.cfm/153.html

Home List categories Eponyms A-Z Biographies by country ... Contact Daniel Alagille French paediatrician, born January 24, 1925, Paris. Associated eponyms: Alagille's syndrome A congenital familial syndrome marked by clinical picture with intrahepatic cholestasis, neonatal jaundice, and hepatomegaly. Biography: Daniel Alagille in 1954 graduated from the University of Paris, where he also obtained a diploma in biochemistry. From 1954 to 1964 he worked in the Hôpial Saint-Vincent-de Paul and was appointed associate professor in 1963. He as elevated to full professor of paediatrics and clinical genetics at the Université Paris-Sud in 1971, also being staff physician and chairman of the department of paediatrics, Hôpital de Bicêtre, where he founded a paediatric liver unit. From 1964 he was chief of the paediatric liver research unit of the Institut National de la Santé et de la Recherche. He remained with the Hôpital de Bicêtre until his retirement in 1990. Alagille was chief editor of the Revue internationale d'hépatologie (1954-1971) and Archives françaises de pédiatrie (1964-1990). He has published more than 500 articles and several books. He became Chevalier de l'Ordre National du Mérite in 1967 and Chevalier de la Légion d'Honneur in 1988. By 1996 he was professor emeritus at the Université Paris-Sud in Bicêtre. Bibliography: D. Alagille, E. C. Habib, N. Thomasin:

93. Alagille (syndrome D') Translate this page alagille. (syndrome d'). voir également ictère, foie, bile, cholestase, xanthome,embryotoxon, cholestérol. En anglais alagille's syndrome. http://www.ifrance.com/hishem/Alagille.htm

Alagille (syndrome d') voir également ictère, foie, bile, cholestase, xanthome, embryotoxon, cholestérol En anglais : Alagille's syndrome. Synonyme : paucité ductulaire. Absence partielle ou totale des canaux biliaires interlobulaires. Cette absence de canaux, destinés à conduire la bile à l'intérieur du foie, est due à une maladie génétique dont la transmission se fait sur le mode autosomique dominant (il suffit que l’un des 2 parents possède l'anomalie génétique pour que l'enfant présente la maladie). Ce syndrome se transmet à la descendance avec une expressivité variable (intensité variant suivant les individus). Symptômes Cholestase ou cholostase (diminution ou arrêt de l'écoulement de la bile) Hépatosplénomégalie (augmentation de volume du foie et de la rate) Prurit intense (démangeaison importante) Anomalies cardio-vasculaires (du cœur et des vaisseaux) le plus souvent à type de sténose de l'artère pulmonaire (fermeture du calibre de cette artère). Anomalies des vertèbres qui prennent une forme en aile de papillon Embryotoxon : arc constitué de composants graisseux se déposant autour de l'iris au niveau de la cornée.

94. Alagille (syndrome D') Translate this page alagille (syndrome d'). voir également ictère, foie, bile, cholestase, xanthome,embryotoxon, cholestérol. En anglais alagille's syndrome. http://www.vulgaris-medical.com/texta/alagille.htm

Alagille (syndrome d') voir également ictère, foie, bile, cholestase, xanthome, embryotoxon, cholestérol En anglais : Alagille's syndrome. Synonyme : paucité ductulaire. Absence partielle ou totale des canaux biliaires interlobulaires. Cette absence de canaux, destinés à conduire la bile à l'intérieur du foie, est due à une maladie génétique dont la transmission se fait sur le mode autosomique dominant (il suffit que l’un des 2 parents possède l'anomalie génétique pour que l'enfant présente la maladie). Ce syndrome se transmet à la descendance avec une expressivité variable (intensité variant suivant les individus). Symptômes Cholestase ou cholostase (diminution ou arrêt de l'écoulement de la bile) Hépatosplénomégalie (augmentation de volume du foie et de la rate) Prurit intense (démangeaison importante) Anomalies cardio-vasculaires (du cœur et des vaisseaux) le plus souvent à type de sténose de l'artère pulmonaire (fermeture du calibre de cette artère). Anomalies des vertèbres qui prennent une forme en aile de papillon Embryotoxon : arc constitué de composants graisseux se déposant autour de l'iris au niveau de la cornée.

95. Alagille (syndrome D') Translate this page En anglais alagille's syndrome. Synonyme syndrome d’alagille.Absence partielle ou totale des canaux biliaires interlobulaires. http://www.vulgaris-medical.com/textp/paucite.htm

En anglais : Alagille's syndrome. Synonyme : syndrome d’Alagille. Retard de croissance Retard mental (mais pas dans tous les cas) Le labo Traitement

96. Alagillen Oireyhtymä Kehitysvammahuollon tietopankki. Sapensalpaus, sydän ja verisuoni-sekä muut epämuodostumat. Alagillen oireyhtymä. Watson-Millerin http://www.saunalahti.fi/kup/syndroma/alagille.htm

Kehitysvammahuollon tietopankki Sapensalpaus, sydän- ja verisuoni- sekä muut epämuodostumat Alagillen oireyhtymä Watson-Millerin oireyhtymä Arteriohepaattinen dysplasia (AHD) Kardiovertebraalinen oireyhtymä Interlobulaarinen sappitiehyeiden harvalukuisuus Oireyhtymällä tarkoitetaan sappitiehyeiden harvalukuisuuden aiheuttamaa sapensalpausta yhdistyneenä sydän- ja verisuoni- sekä muihin epämuodostumiin. Sen päätunnusmerkkeihin kuuluvat otsan kohoutuminen, syvälle asettuneet ja etäällä toisistaan sijaitsevat silmät, suora nenä ja suippo leuka, toisinaan myös käheä ääni ja muitakin epänormaaleja piirteitä. Keskitasoista kehitysvammaisuutta esiintyy noin 15 %:lla. Yläleuan hampaat saattavat olla eteentyöntyneet ja korvat esiinpistävät. Silmien verkkokalvojen väriaine voi olla epätasaisesti jakautunut ja karsastusta saattaa esiintyä, samoin näköhemon nystyn poikkeavuutta ja pupillien virheellistä sijoittumista. Nenän kärki on usein sipulimainen. Oireyhtymään kuuluvat myös nikamankaaren vauriot, nikaman keskiosan puuttuminen, puolinikamaisuus ja nikamien yhteensulautuminen, lannenikamien etäistyminen, vartalon ja kasvojen ihon verisuoniston laajentumisen aiheuttamat läiskät ja kämmenien punoitus, ihokarvoituksen niukkuus, heikentyneet refleksit, sydämen sivuäänet, keuhovaltimon ahtauma, sydämen väliseinävauriot, kehittymätön aortta, Fallotin tetralogia , krooninen sapensalpaus ensimmäisinä elinkuukausina ja sitä seuraava lapsuuden keltatauti, maksan ja pernan suurentuneisuus, verenpainetauti sekä mahdollisesti maksakirroosi, sukurauhasten sekä munuaisten kehittymättömyys, munuaisvaltimon ahtauma ja munuaisrappeuma.

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