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

61. UGT1A1
CD972508, 118, TAAAA^AAGGActCTGCTATGCT, criglernajjar syndrome 1, 1. CD931056, 169, GCCCACT^GTAttcTTCTTGCATG, crigler-najjar syndrome 1, 2.
http://archive.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 CTTGTTT^GGTgATCAGATGGA Crigler-Najjar syndrome 2 ATGGAG^ACTAaGGGAGCTGGA Crigler-Najjar syndrome 1 References 1 - Ciotti (1997) Am J Med Genet 2 - Ritter (1993) J Biol Chem ... Pharmacogenetics
HGMD

62. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Crigler-Najjar Synd
Category criglernajjar syndrome. HOME ABOUT Search Login . Conditions and Diseases/Genetic Disorders/crigler-najjar syndrome. Links
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63. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/
Click Here. Top Health Conditions and Diseases Genetic Disorders criglernajjar syndrome (5 links). News about crigler-najjar syndrome
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Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Genetic Disorders Crigler-Najjar Syndrome (5 links) See Also: News about Crigler-Najjar Syndrome New Cardiac Arrhythmia Syndrome Identified (June 1, 2004) full story Silence Of The Genes: Researchers Provide Unique View Of Inherited Disorders And Cancer (June 1, 2004) full story UW-Madison Scientists Find A Key To Cell Division (May 28, 2004) full story Vaccines Against Foodborne Disease On Horizon (May 25, 2004) full story Discovery Of Gene For Cornelia De Lange Syndrome Discovery May Lead To Prenatal Test For Debilitating Disorder (May 20, 2004) full story [ More news about Crigler-Najjar Syndrome Books about Crigler-Najjar Syndrome List Price: Amazon.com's Price:

64. »»Reviews For Crigler-Najjar Syndrome««
criglernajjar syndrome Reviews. Related Subjects Genetic_Disorders More Pages crigler-najjar syndrome Page 1 2. Search site for a Book Review.
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Crigler-Najjar Syndrome Reviews
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More Pages: Crigler-Najjar Syndrome Page 1 Book reviews for "Crigler-Najjar Syndrome" sorted by average review score: Management of Genetic Syndromes Published in Hardcover by Wiley-Liss (15 January, 2001) Authors: Suzanne B. Cassidy and Judith E. Allanson Amazon base price:
Used price:
Buy one from zShops for: Average review score:
Excellent Educational Text "...a detailed practical guide for management of patients with genetic conditions...an asset to the bookshelf of any healthcare provider...also an excellent educational text..." (Journal of Genetic Counseling, Vol. 12, No. 4, August 2003) Useful Book "...quite useful to anyone...interested in a taste of what emerging technologies in genomics, proteomics, and bioinformatics can bring to bear on questions of potential importance in biomedical research." (American Journal of Human Genetics, Vol. 72, 2003) "a wealth of practical information" Cassidy and Allanson have assembled a talented group of authors to address the more common genetic disorders. The chapters are extremely well organized and each emphasizes not only diagnostic techniques and differential diagnosis, but also patient management. The generalist will find a wealth of practical information readily available and accessible. The clinical geneticist will discover and rediscover valuable "pearls" within this text. Edward R.B. McCabe, Department of Pediatrics, Mattel Children's Hospital at UCLA Hereditary Hearing Loss and Its Syndromes (Oxford Monographs on Medical Genetics, No 28)

65. Crigler-Najjar Syndrome
criglernajjar syndrome. Definition Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
http://www.shands.org/health/information/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

66. Maladie De Gilbert Et Maladie De Crigler-Najjar
Translate this page regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of 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.
  • 67. Resource Library Find Information On Crigler-Najjar Syndrome At
    criglernajjar syndrome. Definition Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
    http://www.mercksource.com/pp/us/cns/cns_hl_adam.jspzQzpgzEzzSzppdocszSzuszSzcns

    68. Disease - Crigler-Najjar Syndrome, North Carolina
    Disease crigler-najjar syndrome. Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
    http://www.uhseast.com/11571.cfm

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    Disease - Crigler-Najjar syndrome
    Liver anatomy 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 Crigler-Najjar); Arias syndrome (type II Crigler-Najjar) Causes And Risk: 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

    69. Crigler-Najjar Syndrome
    Liver Disease. criglernajjar syndrome. Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
    http://www.pennhealth.com/ency/article/001127.htm
    Search Encyclopedia: List of Topics Print This Page  Liver Disease
    Crigler-Najjar syndrome
    Liver anatomy 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 Crigler-Najjar); 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

    70. Crigler-Najjar Syndrome
    criglernajjar syndrome. Crigler-Najar Syndrome; Crigler Najar Syndrome; Crigler Najjar Syndrome; Syndrome, Crigler-Najar; Syndrome, Crigler-Najjar.
    http://medical.webends.com/kw/Crigler-Najjar Syndrome
    Medical.WebEnds.com - Medical Terminology Dictionary
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    Crigler-Najjar Syndrome
    Crigler-Najar Syndrome; Crigler Najar Syndrome; Crigler Najjar Syndrome; Syndrome, Crigler-Najar; Syndrome, Crigler-Najjar A familial form of congenital hyper bilirubin emia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation.
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    71. Mioti: Diseases + Conditions
    Diseases + Conditions Crigler Najjar Syndrome. Search Mioti MEDLINEplus criglernajjar syndrome. MEDLINEplus, a goldmine of
    http://www.mioti.com/cat/condition/condition.asp?Cat=CriglerNajjar

    72. Free Online ICD9/ICD9CM Codes And Medical Dictionary
    criglernajjar syndrome Crigler-Najar Syndrome Crigler Najar Syndrome Crigler Najjar Syndrome Syndrome, Crigler-Najar Syndrome, Crigler-Najjar A
    http://icd9cm.chrisendres.com/index.php?action=dictdtl&recordid=2977

    73. Avera Health - Crigler-Najjar Syndrome
    criglernajjar syndrome. Definition Glucuronyl transferase deficiency (type I); Arias syndrome (type II Crigler-Najjar). Causes, incidence, and risk factors
    http://www.avera.org/adam/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

    74. Avera Health - Crigler-Najjar Syndrome
    criglernajjar syndrome. Liver biopsy, enzyme assay for low-absent Glucuronyl transferase activity; A family history of crigler-najjar syndrome.
    http://www.avera.org/adam/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.

    75. Welcome To ENH.org - Health Encyclopedia: Crigler-Najjar Syndrome
    criglernajjar syndrome. Prevention Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
    http://www.enh.org/Encyclopedia/ency/article/001127.asp
    Screenings
    Disease Reference
    Injury Reference Test Reference ... Child Safety
    Crigler-Najjar syndrome
    Liver anatomy 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

    76. Entrez PubMed
    Click here to read Diagnosis and management of criglernajjar syndrome. Jansen PL. Division of Gastro-enterology and Liver Diseases
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

    77. Crigler-Najjar Syndrome Type II. New Observation Of Possible
    criglernajjar syndrome type II. New observation Germany. The inheritance of crigler-najjar syndrome type II (CNS II) is still unclear. Both
    http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=DocSum

    78. NodeWorks - Genetic Disorders: Crigler-Najjar Syndrome
    Top Health Conditions Diseases Genetic Disorders criglernajjar syndrome ( 2 ). An inherited disorder of bilirubin metabolism
    http://dir.nodeworks.com/Health/Conditions_and_Diseases/Genetic_Disorders/Crigle
    in entire NodeWorks Directory in Health in Genetic Disorders in ++ Crigler-Najjar Syndrome Top Health Genetic Disorders Crigler-Najjar Syndrome An inherited disorder of bilirubin metabolism in which bilirubin cannot be changed into its water-soluble form, bilirubin glucuronide. This is caused by an enzyme imbalance in the liver. Crigler-Najjar Disease Bi-lingual site with information and links on this disease. NORD: Crigler Najjar Syndrome Type I General information and further resources.
    NodeWorks boosts web surfing! Page Returned in seconds - HTML Compressed Help build the largest human-edited directory on the web. Submit a Site Update a Site Open Directory Project Become an Editor

    79. Crigler-Najjar Syndrome
    criglernajjar syndrome. Alternative Names Genetic counseling is recommended for prospective parents with a family history of crigler-najjar syndrome.
    http://www.healthscout.com/ency/article/001127prv.htm
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    Crigler-Najjar syndrome
    Alternative Names: Glucuronyl transferase deficiency (type I Crigler-Najjar); Arias syndrome (type II Crigler-Najjar)
    Prevention: Genetic counseling is recommended for prospective parents with a family history of Crigler-Najjar syndrome. People who carry the gene can be recognized by blood testing.
    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.
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    80. Genetic Disorders / Crigler-Najjar Syndrome
    Genetic Disorders / criglernajjar syndrome. Categories related to crigler-najjar syndrome Conditions and Diseases/Nutrition and Metabolism Disorders,
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    Pediatric Database
    A look at crigler-najjar syndrome, a definition, epidemiology, pathogenesis, clinical features, investigation and management. Davidson College Biology Department
    A brief description of crigler-najjar syndrome along with some links for further study. Austin Health Information
    An overview of crigler-najjar syndrome including symptoms, treatment and prevention. Crigler-Najjar Disease Bi-lingual site with information and links on this disease. NORD: Crigler Najjar Syndrome Type I General information and further resources. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Feel free to link to this page: http://paloweb.com/Health/Conditions_and_Diseases/Genetic_Disorders/Crigler-Najjar_Syndrome/

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