Disease Information for Crigler-Najjar syndrome

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Clinical Manifestations
Signs & Symptoms
Yellow skin discoloration
Jaundice of newborn
Jaundice/Yellow skin and eyes
Yellow eyeballs/Scleral icterus
Mental Deficiency Child
Neurologic manifestations/signs
Neurological symptoms/signs
Clinical Presentation & Variations
Presentation/Death in infancy
Disease Progression
Course/Chronic disorder
Course/Chronic only
Familial disease variant/course prediction
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Liver disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Indirect bilirubin inc/normal direct bil. (Lab)
Liver Functions Abnormal (Lab)
Abnormal Lab Findings - Decreased
URINE Urobilinogen
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Indirect bilirubin (Lab)
PT -Prothrombin time (Lab)
Diagnostic Test Results
Pathology
PATH/Tissue biopsy/Enzyme assay abnormal
Isotope Scan
Isotope/Hepatic bilirubin clearance study/abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Basal gangion lesion/secondary
Bilirubinemia
Cirrhosis in childhood
Crigler-Najjar syndrome
Death Newborn/Perinatal
Kernicterus
Mental retardation
Neonatal hyperbilirubinemia
Upper GI Bleeding in children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Liver involvement/disorder (ex)
CLASS/Liver/gallbladder/ducts (category)
Pathophysiology
Pathophysiology/Dominant and Autosomal recessive variants
Pathophysiology/Dominant inheritance kindred/variety
Pathophysiology/Gene locus Chromosome 2
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Variable course subsets/severe/mild
Pathophysiology/Defect glucuronyl transferase /UDP
Pathophysiology/UDPGA/Uridine diphos-glucuronide def
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Subsets/Variable dominance/sex linkage
PROCESS/Variant expressions/Subsets (ex)
PROCESS/Inherited bilirubin metabolism disorder (ex)
Synonyms
Synonym
Bil UDP glucurnyl transf defic, Bili glucuronosyltra'ase def, Bilirubin glucuronosyltransferase deficiency, Bilirubin UDP glucuronyl transferase deficiency, Crigler Najar Syndrome, CRIGLER NAJJAR DISEASE, crigler Najjar disease or syndrome, Crigler Najjar syndrome, Crigler Najjar syndrome (disorder), Crigler Najjar syndrome type I, Crigler Najjar syndrome type I (disorder), Crigler Najjar type 1, deficiency glucuronyl transferase, Deficiency of glucuronosyltransferase, glucuronyl transferase deficiency, Glucuronyltransferase deficiency, jaundice crigler Najjar disease or syndrome (fetus), kernicterus crigler Najjar disease or syndrome, Syndrome Crigler Najar, Syndrome Crigler Najjar, UDP glucuronyl transferase deficiency, Synonym/Arias syndrome, Synonym/Bilirubin glucuronyl transferase deficiency, Synonym/Congenital non-hemolytic jaundice/CN, Synonym/Congenital unconjugated hyperbilirubinemia, Synonym/Congenital unconjugated/non-hemolytic jaundice
Treatment
Drug Therapy - Indication
RX/Phenobarbital
SX/Hepatocyte/transplant
Surgical Procedures or Treatments
SX/Liver transplant
Other Treatments
TX/Phototherapy.
Definition

A familial form of congenital hyperbilirubinemia 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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External Links Related to Crigler-Najjar syndrome
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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