21. Alagille Syndrome, AHD, Arteriohepatic Dysplasia, Cholestasis With Peripheral Pu Alagille Syndrome, AHD, arteriohepatic dysplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromatic Hepatic Ductular Hypoplasia,Alagille Syndrome, AHD http://www.icomm.ca/geneinfo/alagille.htm

Alagille Syndrome, AHD, Arteriohepatic Dysplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromatic Hepatic Ductular Hypoplasia,alagille syndrome, ahd, arteriohepatic dysplasia, cholestasis with peripheral pulmonary stenosis, syndromatic hepatic ductular hypoplasia,Alagille Syndrome, AHD, Arteriohepatic Dysplasia, Cholestasis with Peripheral Pulmonary Stenosis, Syndromatic Hepatic Ductular Hypoplasia For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Alagille Syndrome also known as: AHD Arteriohepatic Dysplasia Cholestasis with Peripheral Pulmonary Stenosis Syndromatic Hepatic Ductular Hypoplasia View photos of this disorder Click on photos to enlarge them. (as defined by the National Organization for Rare Disorders Alagille Syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency.

22. Arteriohepatic Dysplasia arteriohepatic dysplasia arteriohepatic dysplasia is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children. http://ww3.komotv.com/global/story.asp?s=1230821&ClientType=Printable

23. Entrez PubMed arteriohepatic dysplasia a benign syndrome of intrahepatic cholestasis with multiple organ involvement. Riely CA, Cotlier E, Jensen http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

24. Entrez PubMed Ocular findings in arteriohepatic dysplasia (Alagille s syndrome). Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

25. Ateriohepatic Dysplasia arteriohepatic dysplasia. (See ALAGILLE SYNDROME). Home HotLines Resources Printed Guide Child Care for the 90 s Links. © 1997 ABC F Press. http://www.childhealthinfo.com/arteriohepatic-dysplasia.htm

ARTERIOHEPATIC DYSPLASIA (See ALAGILLE SYNDROME) [Home] [Printed Guide] [Child Care for the '90's] [Links] ... MoreInfo@ChildHealthInfo.com

26. HealthMedNet ILLNESS DISEASE URL DIRECTORY arteriohepatic dysplasia, http//directory.ansme.com/health/168.html, arteriohepatic dysplasia, http//my.webmd.com/content/healthwise/30/7398, http://www.healthmednet.com/ARO-ATH.htm

ARO - ATH Aromatherapy http://www.ahealthyme.com/primerindex/a Arrhenoblastoma http://www.healthcentral.com/library/library.cfm Arrhenoblastoma of ovary http://health.yahoo.com/encyclopedia/a.html Arrhenoblastoma Of Ovary http://www.healthcentral.com/library/library.cfm Arrhthymias http://www.heart.info.org/card_db.html Arrhthymias http://www.mic.Ki.Se/Diseases/index.html Arrhythmia http://directory.ansme.com/health/168.html Arrhythmia http://health.excite.com/ Arrhythmia http://www.americanheart.org/presenter.jhtml?identifier=1200002 Arrhythmia http://www.emedicine.com/aaem/topiclist.htm Arrhythmia http://www.galaxy.com/cgi-bin/dirlist?node=33685 Arrhythmia http://www.health.com/health/wynks/ Arrhythmia http://www.health.gov/NHIC/NHICScripts/AlphaKey.cfm?Alpha= Arrhythmia http://www.health.nih.gov Arrhythmia http://www.hon.ch/cgi-bin/HONselect?browse+C14.280 Arrhythmia Arrhythmia http://www.ohsu.edu/cliniweb/C14/C14.280.html Arrhythmia http://www.vh.org/navigation/vh/topics/adult_patient_index.html Arrhythmia http://www.webcrawler.com/health/diseases_and_conditions/conditions_a_z/conditions_a Arrhythmia http://www-med.stanford.edu/healthlibrary/resources/internet/bodysystems/cardiovascular.html#aneurysms

27. Alagille Syndrome arteriohepatic dysplasia OR ALAGILLE SYNDROME. Alagille Medicine. Alagille sSyndrome / arteriohepatic dysplasia Right elbow - Xanthomata. http://www.health-nexus.com/alagille_syndrome.htm

Health-Nexus.Net Health-Nexus.Org 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...

28. Alagille Syndrome New Register, Dr Ira Shah MD, DCH(Gold Medalist), FCPS, DNB. Key words arteriohepatic dysplasia , chronic cholestasis, pulmonary artery hypoplasia http://www.pediatriconcall.com/fordoctor/casereports/alagille_syndrome.asp

DOCTOR CORNER Search GO Home Back Ask Doctor Post Query Education Teaching Files Question of the day Specialist Answers Latest Updates Conference Journal Search Pharma Updates Search For Pediatricians Hospitals Special Schools Drug Index ... Sign Out ALAGILLE SYNDROME UserName Password New Register 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.

29. Alagille Syndrome / The Family Village See also arteriohepatic dysplasia, WatsonAlagille Syndrome, Syndromic Hepatic Ductular Hypoplasia, Syndromic Intrahepatic Biliary Hypoplasia, Cholestasis 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.

30. Arteriohepatic Dysplasia (Alagille Syhdrome,AGS) The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://www3.vghtc.gov.tw:8082/ped/department/ghc/disease/2002-11-28/Arteriohepat

Arteriohepatic Dysplasia (Alagille syndrome, AGS) µo¥Í²v¡G ¤£©ú¡A ­º¦¸³ø¾É¡A Jagged 1 gene (JAG1) ¬°¥D­n¯f¦]¡C ¯f¡@¦]¡G ¡A¦ì©ó¬V¦âÅé ¡A¬ðÅܩίʥ¢ ¥i¾É­P AGS ¡A¬°½¤¤W Notch ¨ü¾¹µ²¦Xª«ªº±K½X¡C (encode a ligand for Notch transmembrane receptor) ¡C¬ù ¯f¤H¬°°¸µo«¬¡A§eÅã©Ê¿ò¶Ç¡C ¯g¡@ª¬¡G Áy³¡¡G ²´²µ²`¡B¼eB¡Bªø»ó¡B¤U¤Ú©úÅã¡B¦Õ·î§Î©Î§C¦ì¡C ¨xŦ¡G ºC©ÊÁx¥Äº¢¯d¡A¨x¤º¤p¸­¶¡ÁxºÞ¯Ê¥F¡A°ªÁx©T¾J¡C ¤ßŦ¡G ASD, VSD, PDA¡C °©Àf¡G ²´·ú¡G (embryotoxon) Axenfeldt Anomaly ¡Cºô½¤°h¤Æ¡A±×µøµ¥¡C ¥Íªø¡G ¿ð½w¡C µÇŦ¡G ¦³ºc³y©M¹ê½è²§±`¡A ¥i¨£µÇ¤p²yÀô¶¡¯×ªÕ¥NÁ»٪(mesangiolipidosis)¡C ªv¡@Àø¡G ¹w¡@«á¡G ¯gª¬©Ê¡A¤ä«ù©Ê¡C ¦º¦]»P¤ßŦ ¡A¨xŦ µo®i¦¨ªùÀR¯ß©Pä (periportal) ÅÖºû¤Æ¡A¬ù ¯f¤H¦º¤`¡^¡C ¤p¨à¿ò¶Ç¥NÁ¤º¤Àªc ·s¥Í¨à¬ì ¤p¨à¤ßŦ¬ì ¤p¨à·P¬V¬ì ... ¤p¨à¯«¸g¬ì ] [¤p¨à¯ÝµÄ¬ì] [ ¤p¨à¦å²G¬ì µo®i¿ð½wÁp¦XŲ©w¤¤¤ß Àu¥Í«O°·¿Ô¸ß¤¤¤ß [¤p¨à³¡] ... [·N¨£¤Ï¬M]

31. Alagille's Syndrome J. Reichen. First described by Alagille in 1969, reported in the English literature in 1975 (1). Synonyms arteriohepatic dysplasia, syndromatic ductopenia. 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).

32. Alagille's Syndrome Dept. of Dermatology University of Iowa College of Medicine. Alagille s Syndrome / arteriohepatic dysplasia - Right elbow - Xanthomata. http://tray.dermatology.uiowa.edu/Alagil01.htm

Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Right elbow - 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

33. Alagille's Syndrome - 4 Medicine. Alagille s Syndrome / arteriohepatic dysplasia Back (Date 10/1980) - Xanthomata Compare with Alagile s Syndrome - 5. http://tray.dermatology.uiowa.edu/Alagil04.htm

Dept. of Dermatology - University of Iowa College of Medicine Alagille's Syndrome / Arteriohepatic Dysplasia - Back (Date: 10/1980) - Xanthomata Compare with Alagile's Syndrome - 5 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

34. Pharmacy Drug Index It is an anticholesterol drug used to reduce abnormally high blood levels of cholesterol and to treat arteriohepatic dysplasia. http://www.mythos.com/pharmacy/Index_DrugName.aspx?L=Q&P=1

35. ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli Translate this page Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia) Review of 80 cases. J Pediatr, 1987, 110 195-200. http://www.orpha.net/data/patho/FR/fr-alagille.html

Le syndrome d'Alagille Auteur : Docteur Michelle Hadchouel Editeur scientifique : Professeur Serge Erlinger Nom de la maladie et ses synonymes Nom des maladies exclues Incidence Description clinique ... Etiologie Nom de la maladie et ses synonymes Syndrome d’Alagille, AGS, Nom des maladies exclues Jagged Incidence Environ 1/100 000 naissances. Description clinique Manifestations cardiaques Anomalies oculaires Mode de prise en charge et traitement Etiologie Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): Review of 80 cases. J Pediatr, 1987, 110 : 195-200. Anad F, Burn J, Matthews D, Cross I, et al. Alagille syndrome and deletion of 20p. J Med Genet, 1990, 27 : 729-37. Cardona J, Houssin D, Gauthier F et al. Liver transplantation in children with Alagille syndrome - a study of twelve cases. Transplantation 1995, 60 : Crosnier C, Lykavieris P, Meunier-Rotival M, Hadchouel M. Alagille syndrome. The widening spectrum of arteriohepatic dysplasia. Clin Liver Dis. 2000, 4:765-78. Hadchouel M. Paucity of interlobular bile ducts. Semin Diagn Pathol, 1992, 9 : 24-3.

36. Alagille Syndrome arteriohepatic dysplasia (ALAGILLE SYNDROME) EXTREME VARIABILITY AMONG AFFECTED FAMILY MEMBERS. SA Shulman et al.; Am J Med Genet (Oct 1984; 19(2)). Pp. http://www.bchealthguide.org/kbase/nord/nord473.htm

document.write(''); var hwPrint=1; var hwDocHWID="nord473"; var hwDocTitle="Alagille Syndrome"; var hwRank="1"; var hwSectionHWID="nord473"; var hwSectionTitle=""; var hwSource="cn6.0"; var hwProdCfgSerNo="wsh_html_031_s"; var hwDocType="NORD"; National Organization for Rare Disorders, Inc. Alagille Syndrome Important It is possible that the main title of the report is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms AHD Arteriohepatic Dysplasia Cholestasis with Peripheral Pulmonary Stenosis Syndromatic Hepatic Ductular Hypoplasia Disorder Subdivisions None Related Disorders List Information on the following diseases can be found in the Related Disorders section of this report: Zellweger Syndrome Cholestasis-Lymphedema Syndrome Byler Disease Alpha-1-Antitrypsin Deficiency General Discussion Alagille Syndrome is a genetic liver disorder usually present at birth. It is characterized by insufficient passage of bile due to a lower than normal number of bile ducts inside the liver. In some cases, the child may be born with no bile ducts. Major symptoms include prolonged yellow skin discoloration (jaundice), eye and heart structure anomalies, abnormally shaped vertebrae of the spine, compression of nerve space inside the lower spine, an absence of deep tendon reflexes, mental deficiency, facial and kidney (renal) abnormalities, shortened fingers, and pancreatic insufficiency.

37. PSU Vol 12, 1999 Two types of PILBD are recognized 1) syndromic (arteriohepatic dysplasia or Alagille s syndrome) with characteristic extrahepatic abnormalities (fascial http://home.coqui.net/titolugo/PSU12.htm

VOLUME 12, 1999 Volume 12 No 01 JANUARY 1999 Biliary Hypoplasia References 1- Cynamon HA, Powell GK, Isenberg JN, Lobe TE: Support for a conservative approach to mixed intrahepatic and extrahepatic biliary hypoplasia. J Pediatr Surg 22(11):1031-2, 1987 2- Schwartz MZ: An alternate method for intraoperative cholangiography in infants with severe obstructive jaundice. J Pediatr Surg. 20(4): 440-442, 1985 3- Kahn E, Daum F: Arteriohepatic dysplasia (Alagille's syndrome): a common cause of conjugated hyperbilirubinemia. Ann Clin Lab Sci 14(6):480-6, 1984 4- Kahn EI, Daum F, Markowitz J, Aiges HW, Schneider KM, So HB, Altman P, Chandra RS, Silverberg M: Arteriohepatic dysplasia. II. Hepatobiliary morphology. Hepatology 3(1):77-84, 1983 5- Lugo-Vicente HL: Biliary Atresia: An Overview. Bol Asoc Med PR 87(7-9): 147-153, 1995 6- Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith DJ, Silverman A, Sokol RJ: Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 127(2):220-4, 1995 Lumbar Hernias References 1- Somuncu S, Bernay F, Rizalar R, Ariturk E, Gunaydin M, Gurses N: Congenital lumbar hernia associated with the lumbocostovertebral syndrome: two cases. Eur J Pediatr Surg. 7(2)122-124, 1997

38. Harriet Lane Links 6. Alagille s Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm 0314-2000. http://derm.med.jhmi.edu/poi/search.cfm?MolecularBiology=-1&SearchTitle=Molecula

39. Harriet Lane Links 5. Alagille s Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm 0314-2000. http://derm.med.jhmi.edu/poi/search.cfm?PlasticSurgery=-1&SearchTitle=Plastic Su

40. Dorlands Medical Dictionary tachycardia arising in the right ventricle. arteriohepatic dysplasia, Alagille syndrome. bronchopulmonary dysplasia, a chronic lung http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 100    Back | 1  | 2  | 3  | 4  | 5  | Next 20