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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

61. Health, Conditions And Diseases, Genetic Disorders: Alagille Syndrome
alagille syndrome Alliance Worldwide support network for people who care about people with alagille syndrome. alagille syndrome
http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Alagille
Top Health Conditions and Diseases Genetic Disorders ... Alagille Syndrome
Related links of interest: Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal. Help build the largest human-edited directory on the web.

62. Alagille Syndrome
alagille syndrome. UserName. Password. New Register, Patient was clinically diagnosed as a case of Arteriohepatic dysplasia or alagille syndrome.
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.

63. Alagille Syndrome - Digestive Disease Terms And Definitions By Health Dictionary
Definition for alagille syndrome and other Digestive Disease Terms by Health Dictionary. alagille syndrome A condition of babies in their first year.
http://www.health-dictionary.com/digestive-term-details/Alagille-Syndrome
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Alagille Syndrome:
A condition of babies in their first year. The bile ducts in the liver disappear, and the bile ducts outside the liver get very narrow. May lead to a buildup of bile in the liver and damage to liver cells and other organs.
Pronunciation: (al-uh-GEEL sin-drohm)
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Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions
2002-2004. All right are reserved.

64. :: Ez2Find :: Alagille Syndrome
Guide alagille syndrome, Global Metasearch Any Language Guides, alagille syndrome. ez2Find Home Directory Health
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65. PharmGKB: Alagille Syndrome
alagille syndrome. Alternate Names Arteriohepatic Dysplasia; Arteriohepatic Dysplasias; Dysplasia, Arteriohepatic; Dysplasias, Arteriohepatic
http://www.pharmgkb.org/do/serve?objId=PA446376&objCls=Disease

66. VolunteerMatch - Alagille Syndrome Alliance
Find a great place to volunteer using VolunteerMatch. alagille syndrome Alliance is located in Portland, Oregon. alagille syndrome Alliance, Back .
http://www.volunteermatch.org/orgs/org9029.html
June 2, 2004
Alagille Syndrome Alliance
View Opportunities

Mission Statement
To provide a support network for people with Alagille Syndrome, enable families to meet other families, support research efforts on AGS, and to increase awareness and understanding of AGS and its symptoms to the general population. Description
The Alagille Syndrome Alliance is an international support network for people with AGS and their families. The Alliance has grown to several hundred families with AGS located all over the world, all seeking support, understanding, and to share their experiences with others.
Opportunities
There are currently no opportunities for this organization.
Address
10630 SW Garden Park Place
Portland, OR 97223 US Contact Julie Kelin (Board of Director/Fundraising Chairperson) Phone Fax Email Website http://www.athenet.net/~luxhoj/Alagillesyndrome.html Home Search Virtual ... For Corporations

67. JAG1
Reference. CD003193, 12, CGGG^CGCCcCCTAAGCCTCCT, alagille syndrome, 1. CD993773, 13, GGGCGC^CCCCtAAGCCTCCTG, alagille syndrome, 2. CD003518,
http://archive.uwcm.ac.uk/uwcm/mg/ns/4/6175920.html
Small deletions Accession
Number Location/
codon Deletion Phenotype Reference
CGGG^CGCCcCCTAAGCCTCCT Alagille syndrome GGGCGC^CCCCtAAGCCTCCTG Alagille syndrome CCCTG^CTCTGtgCCCTGCGAGC Alagille syndrome TGCTC^TGTGCcCTGCGAGCCA Alagille syndrome CTGTGCC^CTGcgagccaag_E1I1_gtaGGAGCCCTTC Alagille syndrome GCCGGCAG_I1E2_GTg^TGTGGGGCCT Alagille syndrome AACGGG^GAGCtGCAGAACGGG Alagille syndrome CCGCGAC^GAGtgtgacacatacttcAAAGTGTGCC Alagille syndrome CTTTC^AGTTTcGCCTGGCCG_E2I2_G Alagille syndrome CGAATGT^AACagAG_E4I4_GTATGTGT Alagille syndrome GTGTCTCCAG_I5E6_gtgccag^TATGGCACTC Alagille syndrome CACCCG^GGATgCGTCCACGGC Alagille syndrome AGTGC^CTCTGtgAGACCAACTG Alagille syndrome GTCTC^AACGGgGGAACTTGTA Alagille syndrome GTTTTTGCAG_I7E8_cT^GAGCACGCC Alagille syndrome GGAG^ACCTCcCTGGGCTTTGA Alagille syndrome GGCTTT^GAGTgtGAGTGTTCCC Alagille syndrome ACGGA^TTTAAgTGTGTGTGCC Alagille syndrome CCCCA^CAGTGgACTGGGAAAA Alagille syndrome CTGT^CGG_E11I11_GTAtgtaaatcTTTGCTTAAA Alagille syndrome TCCCCTTCTCctcttctaG_I11E12_^GATTTGGTT Alagille syndrome CACTGT^GAGAgaGACATCGATG Alagille syndrome GTGAG^AGAGAcaTCGATGAATG Alagille syndrome GAGAGA^GACAtCGATGAATGT Alagille syndrome CCAGC^AACCCctGTTTGAATGG Alagille syndrome ACCCC^TGTTTgaatGGGGGTCACT Alagille syndrome CAGTGT^CTGTgtCCCACTGGTT Alagille syndrome TCTGC^AAGTGcCCCGAGGACT Alagille syndrome AACTGC^TCACacCTGAAAGACC Alagille syndrome GCACG^ACCCCctGTGAAG_E13I13_GTAC Alagille syndrome AGTGGCC^ATGgCTTCCAACGA Alagille syndrome CCAAC^GTCTGtgGTCCTCACGG Alagille syndrome

68. JAG1
CM993737, 25, gCGATGA, Arg-Term, alagille syndrome, 1. CM003434, 33, GGT-GAT, Gly-Asp, alagille syndrome, 2. CM003435, 37, TTG-TCG, Leu-Ser, alagille syndrome, 2.
http://archive.uwcm.ac.uk/uwcm/mg/ns/1/6175920.html
Nucleotide substitutions (missense / nonsense) Accession
Number Codon Nucleotide Amino acid Phenotype Reference
gCGA-TGA Arg-Term Alagille syndrome GCC-GTC Ala-Val Alagille syndrome GGT-GAT Gly-Asp Alagille syndrome TTG-TCG Leu-Ser Alagille syndrome ATC-AGC Ile-Ser Alagille syndrome CTG-CCG Leu-Pro Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome cGTG-TTG Val-Leu Biliary atresia, extrahepatic gGAG-TAG Glu-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gAAC-GAC Asn-Asp Biliary atresia, extrahepatic AAG-ATG Lys-Met Biliary atresia, extrahepatic TTC-TCC Phe-Ser Alagille syndrome TGC-TCC Cys-Ser Alagille syndrome CTC-CAC Leu-His Alagille syndrome gCCT-TCT Pro-Ser Alagille syndrome cGCC-ACC Ala-Thr Alagille syndrome TGG-TAG Trp-Term Alagille syndrome CCG-CGG Pro-Arg Alagille syndrome ATT-ACT Ile-Thr Alagille syndrome TCG-TAG Ser-Term Alagille syndrome CCC-CGC Pro-Arg Alagille syndrome CCC-CTC Pro-Leu Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gCAG-TAG Gln-Term Alagille syndrome gTAT-AAT Tyr-Asn Alagille syndrome cCGC-TGC Arg-Cys Alagille syndrome cCGC-GGC Arg-Gly Alagille syndrome CGC-CAC Arg-His Alagille syndrome CGC-CTC Arg-Leu Alagille syndrome TGT-TCT Cys-Ser Alagille syndrome TACt-TAG Tyr-Term Alagille syndrome AGA-AAA Arg-Lys Biliary atresia, extrahepatic

69. Short Description Of Cell Lines. Pathology: Alagille Syndrome #118450
Version 4.200205, Short description of cell lines. Pathology alagille syndrome 118450 OMIM record. By selecting the cell line
http://www.biotech.ist.unige.it/cldb/pat410.html
Version
Short description of cell lines.
Pathology: Alagille syndrome
OMIM record
By selecting the cell line name , you will receive the detailed description of the cell line
By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines
You can search any term of the list by using the 'Find' utility of your browser
human, Caucasian
lymphoblast GEIMM
By Beatrice...

70. Alexa Web Search - Subjects > Health > Conditions And Diseases > Genetic Disorde
alagille syndrome Subjects Health Conditions and Diseases Genetic Disorders alagille syndrome. Sort by Most Popular.
http://www.alexa.com/browse/general?catid=550333&mode=general

71. 227: ALAGILLE SYNDROME WITH HEMOCHROMATOSIS
alagille syndrome WITH HEMOCHROMATOSIS. J Leonard, M Borgaonkar. A case report of a patient with both alagille syndrome and hemochromatosis will be discussed.
http://www.pulsus.com/cddw2003/abs/abs227.htm
ALAGILLE SYNDROME WITH HEMOCHROMATOSIS J Leonard , M Borgaonkar
Department of Medicine, Memorial University of Newfoundland, St. John's, Newfoundland
A case report of a patient with both Alagille syndrome and hemochromatosis will be discussed.
Alagille syndrome is a rare inherited condition of arteriohepatic dysplasia usually recognized within the first year of life. Jaundice and cholestasis resulting from biliary tract hypoplasia are the predominant features. Alagille syndrome may result in long-term complications including cirrhosis, hepatocellular carcinoma, and pancreatic insufficiency. Hemochromatosis is also a genetic disorder characterized by increased gut iron absorption. Eventually there can be iron deposition in several areas including the liver, heart, and pancreas leading to organ dysfunction. Until now, there have been no reports of a patient with both Alagille syndrome and hemochromatosis.
This is the first case of a patient with both Alagille syndrome and hemochromatosis. This case represents an interesting association of two genetic disorders. Although almost certainly incidental, this association has never before been reported.
NEXT ABSTRACT

72. OMIM - ALAGILLE SYNDROME; AGS

http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=118450

73. HealthCentral
alagille syndrome Definition alagille syndrome is a genetic disorder that mimics other forms of prolonged liver disease in infants and young children.
http://www.healthscout.com/ency/408/563/main.html
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74. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Alagille Syndrome
Category alagille syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Genetic Disorders/alagille syndrome.
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75. Alagille Syndrome From Linkspider UK Health Directory
alagille syndrome by Linkspider UK, alagille syndrome links and alagille syndrome topics from our Health directory. Helping you
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76. Alagille Syndrome
Home Up . Click Here! alagille syndrome. Click Here! Musice.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch
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77. Alagille Syndrome Information Diseases Database
2 synonyms or equivalents were found. alagille syndrome aka/or Arteriohepatic dysplasia Medical information linksalagille syndrome specific sites.
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78. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alagille+Syndrome
Alagille (syndrome d ) Alagille s syndrome.
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Alagille Syndrome

79. Alagille Syndrome Alliance
Return to Search Page alagille syndrome Alliance. Conditions alagille syndrome; Watsonalagille syndrome. Hours Answered 8am - 9pm, PST Voicemail yes.
http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Alag

80. 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
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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.

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