Geometry.Net - the online learning center
Home  - Health_Conditions - Crigler-najjar Syndrome

e99.com Bookstore
  
Images 
Newsgroups
Page 2     21-40 of 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20
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  

         Crigler-najjar Syndrome:     more detail
  1. Crigler-Najjar Syndrome

21. Crigler-Najjar Syndrome
criglernajjar syndrome. Crigler-Najjar Syndrome crigler-najjar syndrome.crigler-najjar syndrome - Welcome to . Advertisement
http://www.health-nexus.com/crigler-najjar_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
Crigler-Najjar Syndrome
Crigler-Najjar Syndrome Web Pages Welcome to the Crigler-Najjar Syndrome Web Site This is a web site devoted to children and adults with the Crigler-Najjar syndrome and their families. ...
www.icondata.com ...files/CRIGLER- ...PEDBASE) Discipline: GI Last Updated: 12/26/94 CRIGLER-NAJJAR SYNDROME - I DEFINITION: An inherited disorder of bilirubin...bili-rubin in the liver there are two forms of Crigler-Najjar Syndrome...
Crigler-Najjar syndrome
CRIGLER-NAJJAR SYNDROME Welcome to .... Advertisement CRIGLER-NAJJAR SYNDROME - A rare genetic defect (autosomal recessive) where there is the inability to form...
MEDLINEplus Medical Encyclopedia: Crigler-Najjar syndrome Crigler-Najjar syndrome. ... Causes and risks Return to top. Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents ...

22. GILBERT SYNDROME
1. Genetic. 1. criglernajjar syndrome-Type I. 2. Gilbert Syndrome (Crigler-NajjarSyndrome-Type II). mild-moderate inherited deficiency of enzyme activity.
http://www.icondata.com/health/pedbase/files/GILBERTS.HTM
  • Pediatric Database (PEDBASE)
  • Discipline: GI
  • Last Updated: 4/28/94
    GILBERT SYNDROME
    DEFINTION:
    A benign disorder of bilirubin metabolism characterized by persistent, unconjugated hyperbilirubinemia and intermittent jaundice.
    EPIDEMIOLOGY:
    • incidence: 6/100 (?)
    • age of onset:
      • newborn (first 4 weeks of life)
    • risk factors:
      • familial - autosomal dominant with variable expression
        • chrom.#: ?2
        • gene: ?
      • PATHOGENESIS:
        1. Background
        • UDP-glucuronosyltransferase is an enzyme which conjugates bilirubin in the liver
        • there are a number of conditions which affect UDP-glucuronosyl-transferase activity resulting in an unconjugated hyperbilirubinemia:
        1. Genetic
        1. Crigler-Najjar Syndrome-Type I
        • severe inherited deficiency of enzyme activity
        2. Gilbert Syndrome (Crigler-Najjar Syndrome-Type II)
        • mild-moderate inherited deficiency of enzyme activity
        2. Acquired
        1. Lucey-Driscoll Syndrome
        • an inhibitor of enzyme activity is acquired from the mother's serum
        2. Breast Milk Jaundice
        • an inhibitor of enzyme activity is acquired from the mother's milk
        2. Genetic Defect
  • 23. Crigler-Najjar Syndrome
    criglernajjar syndrome. Definition Causes, incidence, and risk factorscrigler-najjar syndrome is inherited as an autosomal recessive trait.
    http://www.pennhealth.com/ency/article/001127.htm
    Disease Injury Nutrition Poison ... Prevention
    Crigler-Najjar syndrome
    Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
    Alternative Names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar)
    Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

    24. Crigler-Najjar Syndrome
    criglernajjar syndrome. Alternative Names Glucuronyl transferase deficiency Afamily history of crigler-najjar syndrome. Review Date 8
    http://www.pennhealth.com/ency/article/001127sym.htm
    Disease Injury Nutrition Poison ... Prevention
    Crigler-Najjar syndrome
    Alternative Names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar)
    Symptoms:
    • A family history of Crigler-Najjar syndrome Yellow skin (jaundice) and eyes (icterus) that begins on the 2nd or 3rd day of life and progressively worsens Jaundice that persists beyond 2 weeks of life without an obvious cause Confusion and changes in thinking (resulting from brain toxicity of bilirubin)

    Signs and tests: Tests used to evaluate the liver function include:
    Review Date: 11/8/2002
    Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

    25. Crigler-Najjar Syndrome : Meddie Health Search
    ITEMS LINKS Austin Health Information An overview of criglernajjarsyndrome including symptoms, treatment and prevention. (Rating
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Cr
    HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED
    Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Genetic Disorders : Crigler-Najjar Syndrome ITEMS: LINKS: HOME ADD A LINK MODIFY A LINK ...
    Design © ISC Enterprises Inc.

    26. Avera Health - Crigler-Najjar Syndrome
    criglernajjar syndrome. Definition Prevention Genetic counseling is recommendedfor prospective parents with a family history of crigler-najjar syndrome.
    http://www.avera.org/adam/ency/article/001127.htm
    Disease Injury Nutrition Poison ... Liver anatomy
    Crigler-Najjar syndrome
    Definition: Crigler-Najjar syndrome is an inherited disorder in which bilirubin (a substance made by the liver) cannot be changed into its water-soluble form, bilirubin glucuronide. This causes jaundice (yellow discoloration of skin and eyes) and organ malfunctions.
    Alternative Names: Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar)
    Causes, incidence, and risk factors: Crigler-Najjar syndrome is caused by an abnormal gene which fails to produce a functional enzyme (bilirubin glucuronyltransferase) capable of converting bilirubin into a water-soluble and therefore, easily excreted form. As a result, bilirubin can build up in the body, which can damage the brain and other organs. The syndrome is inherited as an autosomal recessive trait. This means that the child must get the defective gene from both parents to develop the severe form of the condition. Parents who are carriers (with just one defective gene) have about half the normal enzyme activity of a normal adult. Infants who inherit the trait from both parents (this is called homozygous for the abnormal gene) develop severe jaundice (hyperbilirubinemia) beginning a few days after birth. If these infants are not treated, they may develop

    27. CRIGLER-NAJJAR SYNDROME
    criglernajjar syndrome - A rare genetic defect (autosomal recessive) where thereis the inability to form bilirubin glucuronide due to the absence of the
    http://www.medhelp.org/glossary/new/gls_1354.htm
    Welcome to .... Advertisement
    CRIGLER-NAJJAR SYNDROME - A rare genetic defect ( autosomal recessive ) where there is the inability to form bilirubin glucuronide due to the absence of the enzyme bilirubin-glucuronoside glucuronosyltransferase; finding include jaundice , and irreversible brain damage in the severe form.
    Med Help International
    Search Ask the Doctor Forums Patient Network The medical glossary has been made possible by a generous donation from:
    (revised: 1996)
    Advertisement

    28. CRIGLER-NAJJAR SYNDROME
    criglernajjar syndrome - A rare, autosomal recessive cause of nonhemolyticjaundice. The problem stems from a genetic defect where
    http://www.medhelp.org/glossary2/new/gls_1466.htm
    CRIGLER-NAJJAR SYNDROME - A rare, autosomal recessive cause of nonhemolytic jaundice . The problem stems from a genetic defect where there is the inability to form bilirubin glucuronide due to the absence of the enzyme bilirubin-glucuronoside glucuronosyltransferase. Characteristics include the signs and symptoms of jaundice with irreversible brain damage in the most severe form of the disease. Treatments include phototherapy, exchange transfusions, and cholestyramine.
    Med Help Home
    Search Ask the Doctor Patient Network The medical glossary has been made possible by a generous donation from:

    29. Crigler-Najjar3bis
    Clinical description of the criglernajjar syndrome from the Online Mendelian Inheritancein Man database. NORD. Mutations in crigler-najjar syndrome patients.
    http://it.geocities.com/criglernajjar/trebis.htm
    CRIGLER-NAJJAR
    SYNDROME Please refer to the following link: Crigler-Najjar Web pages Other useful links: OMIN Clinical description of the Crigler-Najjar syndrome from the Online Mendelian Inheritance in Man database. NORD Clinical description of the Crigler-Najjar syndrome from the National Organization for Rare Disorders, Inc. database. Dr. Namita Roy-Chowdhury Home page of Dr. N. Roy-Chowdhury at the Albert Einstein College of Medicine of Yeshiva University, Bronx, NY. The Human Gene Mutation Database Mutations in Crigler-Najjar syndrome patients. B-UDPGT Human UDP-glucuronosyltransferase from the OMIN database. Online Medical Dictionary Medical dictionary from the CancerWeb. Yahoo.health Clinical description of the Crigler-Najjar syndrome from the database of Adam.com. Yahoo.health. Glossary of Genetic Terms Glossary of genetic term from the NIH site. Cholestyramine Information on cholestyramine frome On Health web site. Download Acrobat file data sheet of Questran. Gabriella's Crigler-Najjar Page Personal page of a Crigler-Najjar patient. More Liver Links Foundations: American Liver Foundation Children's Liver Disease Foundation Center for Liver Disease and Transplantation Children's Liver Alliance Inc. (Australia)

    30. Crigler-Najjar3registry
    Web Page http//www.criglernajjar.com. THE criglernajjar syndrome GROUP. THE CRIGLER-NAJJARSYNDROME NEWSLETTER. Newsletter made by Crigler-Najjar families.
    http://it.geocities.com/criglernajjar/treregistry.htm
    CRIGLER NAJJAR
    SYNDROME
    THE CRIGLER NAJJAR ASSOCIATION CNA / King’s Way Foundation c/o Cory Mauck 3134 Bayberry Street Witchita, Kansas 67226 e-mail: mauckc@msn.com
    Web Page: http://www.criglernajjar.com
    THE CRIGLER-NAJJAR SYNDROME GROUP List of parents, patients and healthcare providers, sharing common experiences about Crigler-Najjar syndrome type I and II. GO TO THE CRIGLER-NAJJAR GROUP
    THE CRIGLER-NAJJAR SYNDROME NEWSLETTER
    Newsletter made by Crigler-Najjar families. It is a way to stay connected with other Crigler-Najjar families. If you would like to receive a copy or send a story about your experience with Crigler-Najjar syndrome, please contact the Hiscock family at the following address:
    hiscock@optonline.net
    Click here to see the March 2001 edition of the CNS FAMILY NEWSLETTER

    Click here to see the November 2001 edition of the CNS FAMILY NEWSLETTER

    Click here to see the January 2003 edition of the CNS FAMILY NEWSLETTER

    THE CRIGLER-NAJJAR SYNDROME PHOTO-ALBUM Visit our photo-album
    Home Definition Treatment ... Updates

    31. Crigler-Najjar Syndrome Information Page Diseases Database
    criglernajjar syndrome Information Page. 2 synonyms or equivalents were found.crigler-najjar syndrome aka/or Glucuronyl transferase deficiency
    http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=3176

    32. Crigler-Najjar Syndrome
    criglernajjar syndrome. Crigler-Najjar Syndrome crigler-najjar syndrome.crigler-najjar syndrome - Welcome to . Advertisement
    http://www.health-nexus.org/crigler-najjar_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
    Crigler-Najjar Syndrome
    Crigler-Najjar Syndrome Web Pages Welcome to the Crigler-Najjar Syndrome Web Site This is a web site devoted to children and adults with the Crigler-Najjar syndrome and their families. ...
    www.icondata.com ...files/CRIGLER- ...PEDBASE) Discipline: GI Last Updated: 12/26/94 CRIGLER-NAJJAR SYNDROME - I DEFINITION: An inherited disorder of bilirubin...bili-rubin in the liver there are two forms of Crigler-Najjar Syndrome...
    Crigler-Najjar syndrome
    CRIGLER-NAJJAR SYNDROME Welcome to .... Advertisement CRIGLER-NAJJAR SYNDROME - A rare genetic defect (autosomal recessive) where there is the inability to form...
    MEDLINEplus Medical Encyclopedia: Crigler-Najjar syndrome Crigler-Najjar syndrome. ... Causes and risks Return to top. Crigler-Najjar syndrome is inherited as an autosomal recessive trait. Parents ...

    33. ORPHANET® : Crigler-Najjar Syndrome
    Translate this page ORPHANET database access. crigler-najjar syndrome. Direct access to details Alias Bilirubin uridinediphosphate glucuronosyltransferase deficiency. Home Page.
    http://www.orpha.net/static/GB/crigler_najjar.html
    ORPHANET database access
    Crigler-Najjar syndrome
    Direct access to details
    Alias :
    Home Page

    34. Service Page - Pathologie Information
    DISEASE criglernajjar syndrome, Synonym(s) Bilirubin uridinediphosphateglucuronosyltransferase deficiency, CIM E80.5, Crigler
    http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=205

    35. Crigler-Najjar Syndrome
    criglernajjar syndrome. BASICS DESCRIPTION Two distinct, inherited,syndromes marked by deficiencies of hepatic glucuronyl transferase.
    http://www.5mcc.com/Assets/SUMMARY/0237.html

    36. Maladie De Gilbert Et Maladie De Crigler-Najjar
    Translate this page regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identificationof a genetic mutation in a patient with crigler-najjar syndrome, type I
    http://www.hepatoweb.com/hepatobase/bilirubine.html
    Revue de Presse
    du Mois

    Mobile
    HEPATOBASE ...
    Retour Liste
    Forme de la mise sur le site Date de mise sur le site Dr D.Mennecier Maladie de Gilbert et maladie de Crigler-Najjar
    (Voir La glucuroconjugaison de la bilirubine
    • partiel dans la maladie de Gilbert,
    • total et non inductible dans la maladie de Crigler-Najjar de type I,
    • incomplet et surtout inductible dans la maladie de Crigler-Najjar de type II.
    Enfin, la maladie de Gilbert ne justifie aucun traitement.
    la maladie de Crigler-Najjar
  • Remarque
    La maladie de Gilbert
    survenant surtout lors La maladie de Gilbert se transmet classiquement sur le mode autosomique dominant. Clinique :
  • Remarque
    Maladie de Gilbert et maladie de Crigler-Najjar
    Philippe LABRUNE 157, rue de la Porte-de-Trivaux, 92141 Clarmart Cedex, France.
    1. Arias IM, Gartner LM, Cohen M, Ben Ezzer J. Chronic non-hemolytic unconjugated hyperbilirubinemia with glucuronosyltransferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med 2. Crigler JF, Najjar VA. Congenital familial non-hemolytic jaundice with kernicterus. Pediatrics 3. Burchell B, Coughtrie MWH, Jansen PLM. Function and regulation of UDP-glucuronosyltransferase genes in health and liver disease : report of the 7th international workshop on glucuronidation, september 1993, Pitlochry, Scotland.
  • 37. Crigler-Najjar Syndrome - General Practice Notebook
    criglernajjar syndrome. crigler-najjar syndrome is a rare form of congenitalnon-haemolytic hyperbilirubinaemia. Type I Crigler-Najjar
    http://www.gpnotebook.co.uk/cache/349175813.htm
    Crigler-Najjar syndrome Crigler-Najjar syndrome is a rare form of congenital non-haemolytic hyperbilirubinaemia. Type I Crigler-Najjar syndrome is characterised by a total deficiency of hepatic glucuronyl transferase. It is inherited as an autosomal recessive. Conjugated bilirubin is absent from the serum. The majority die with kernicterus in the first year of life. Phototherapy can reduce the serum bilirubin by 50% and may be performed at home. Type II Crigler-Najjar syndrome is characterised by a partial deficiency of glucuronyl transferase. It is inherited as an autosomal dominant. Patients given phenobarbital often survive into adult life. Phototherapy may be used to lower the serum bilirubin level.
    Click here for more information...

    38. Home
    criglernajjar syndrome is caused by a liver enzyme deficiency. The Crigler-NajjarAssociation. In Search of a Cure for crigler-najjar syndrome.
    http://www.criglernajjar.com/
    Crigler-Najjar Syndrome is caused by a liver enzyme deficiency
    Crigler-Najjar Syndrome (CNS) is an inherited metabolic disorder caused by a liver enzyme deficiency which prevents the usual metabolic breakdown of bilirubin; a normal by-product in our body’s disposal of worn-out red blood cells. Children with CNS are unable to eliminate bilirubin from their bodies and therefore must undergo daily 12-hour exposure to special blue lights, just to survive. Without daily treatments, a child would suffer brain damage, muscle and nerve damage and death due to bilirubin toxicity.
    A Rare Orphan Disease
    Crigler-Najjar is a very rare disease. There are less than 50 known cases in the USA, and less than 200 worldwide. It is named after Dr. Crigler and Dr. Najjar who discovered the disease. Dr. John F. Crigler is a Special Medical Two-year-old Melanie has to sleep under intense blue lights to help combat the disease Crigler-Najjar Syndrome Advisor to the CNA.
    The Crigler-Najjar Association
    In Search of a Cure for Crigler-Najjar Syndrome
    Our group represents approximately 50 families in the U.S.A. who have family members affected by Crigler-Najjar syndrome. Started in 2002 with a handful of Crigler-Najjar families, our group has grown and expanded to represent all families who are interested in finding a cure, and helping others who are less fortunate.

    39. UGT1A1
    Reference. CM961403, 15, CTGCGG, Leu-Arg, crigler-najjar syndrome2, 1. CM002646, 39, cCAC-GAC, His-Asp, crigler-najjar syndrome 1, 2.CM981989,
    http://www.uwcm.ac.uk/uwcm/mg/ns/1/120007.html
    Nucleotide substitutions (missense / nonsense) Accession
    Number Codon Nucleotide Amino acid Phenotype Reference
    CTG-CGG Leu-Arg Crigler-Najjar syndrome 2 cCAC-GAC His-Asp Crigler-Najjar syndrome 1 gCAG-TAG Gln-Term Crigler-Najjar syndrome 1 cGGA-AGA Gly-Arg Crigler-Najjar syndrome 1 TACa-TAA Tyr-Term Crigler-Najjar syndrome 1 CTG-CAG Leu-Gln Crigler-Najjar syndrome 2 aTGC-CGC Cys-Arg Crigler-Najjar syndrome 1 gCGG-TGG Arg-Trp Crigler-Najjar syndrome 2 GTG-GGG Val-Gly Crigler-Najjar syndrome 2 CCG-CAG Pro-Gln Gilbert syndrome cAAC-TAC Asn-Tyr Crigler-Najjar syndrome 1 TGCc-TGA Cys-Term Crigler-Najjar syndrome 1 GCC-GTC Ala-Val Crigler-Najjar syndrome 1 ATT-ACT Ile-Thr Crigler-Najjar syndrome 2 GGA-GAA Gly-Glu Crigler-Najjar syndrome 1 CAG-CGG Gln-Arg Crigler-Najjar syndrome 1 tCAG-TAG Gln-Term Crigler-Najjar syndrome 1 TGGc-TGA Trp-Term Crigler-Najjar syndrome 1 gCGG-TGG Arg-Trp Crigler-Najjar syndrome 1 cCGA-TGA Arg-Term Crigler-Najjar syndrome 1 CAA-CGA Gln-Arg Crigler-Najjar syndrome 1 cCAA-TAA Gln-Term Crigler-Najjar syndrome 1 cCGT-GGT Arg-Gly Gilbert syndrome tGCC-ACC Ala-Thr Crigler-Najjar syndrome 1 TCC-TTC Ser-Phe Crigler-Najjar syndrome 1 CAT-CGT His-Arg Crigler-Najjar syndrome 2 GGT-GTT Gly-Val Crigler-Najjar syndrome 2 AGCa-AGG Ser-Arg Crigler-Najjar syndrome 1 tGCA-CCA Ala-Pro Crigler-Najjar syndrome 1 aAAA-GAA Lys-Glu Crigler-Najjar syndrome 1 cAAG-TAG Lys-Term Crigler-Najjar syndrome 1 GAG-GCG Glu-Ala Crigler-Najjar syndrome 2 TGG-TAG Trp-Term Crigler-Najjar syndrome 1

    40. UGT1A1
    CD972508, 118, TAAAA^AAGGActCTGCTATGCT, criglernajjar syndrome 1,1. CD931056, 169, GCCCACT^GTAttcTTCTTGCATG, crigler-najjar syndrome1, 2.
    http://www.uwcm.ac.uk/uwcm/mg/ns/4/120007.html
    Small deletions Accession
    Number Location/
    codon Deletion Phenotype Reference
    TAAAA^AAGGActCTGCTATGCT Crigler-Najjar syndrome 1 GCCCACT^GTAttcTTCTTGCATG Crigler-Najjar syndrome 1 ATTCTTC^TTGcATGCACTGCC Crigler-Najjar syndrome 1 TCCTT^CAGAGagAGGTGACTGT Crigler-Najjar syndrome 2 ATTTGAA^GCCtacattaatgcttcTGGAGAACAT Crigler-Najjar syndrome 1 AATTGCT^GATgCTTTGGGCAA Crigler-Najjar syndrome 2 CTTGCG^AACAaCACGATACTT Crigler-Najjar syndrome 1 ATGGAG^ACTAaGGGAGCTGGA Crigler-Najjar syndrome 1 References 1 - Ciotti (1997) Am J Med Genet 2 - Ritter (1993) J Biol Chem ... J Clin Invest
    HGMD

    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 94    Back | 1  | 2  | 3  | 4  | 5  | Next 20

    free hit counter