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360 Possible Causes for Crigler-Najjar Syndrome Type 1

  • Crigler-Najjar Syndrome Type 1

    Title Other Names: Crigler-Najjar syndrome, type I Categories: Crigler Najjar syndrome, type 1 is an inherited disorder in which bilirubin, a substance made by the liver,[rarediseases.info.nih.gov] Irreversible brain damage may occur early in the course of Crigler-Najjar syndrome type 1.[ncbi.nlm.nih.gov] PubMed is a searchable database of medical literature and lists journal articles that discuss Crigler Najjar syndrome, type 1.[rarediseases.info.nih.gov]

  • Gilbert Syndrome

    There are two forms: Crigler-Najjar syndrome type 1 (CN-1) and Crigler-Najjar syndrome type 2 (CN-2).[rarediseases.info.nih.gov] People with Gilbert syndrome have a normal life expectancy. [1] Of note, mutations in the UGT1A1 gene can alternatively cause other disorders, such as Crigler-Najjar syndrome[rarediseases.info.nih.gov] In both types, jaundice is persistent and more severe than in Gilbert syndrome, with CN-1 causing potentially life-threatening symptoms. [1] [4] [5] Sometimes it can be hard[rarediseases.info.nih.gov]

  • Transient Familial Neonatal Hyperbilirubinemia

    Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Cystic fibrosis Dubin-Johnson syndrome Erythrocyte galactose epimerase deficiency FTH1[se-atlas.de] The five inheritable conditions discussed are: Rotor syndrome (RS); Gilbert’s syndrome (GS); Crigler-Najjar syndrome types 1 and 2 (CNS1 and CNS2); Dubin-Johnson syndrome[acutecaretesting.org] Depending on the severity of a mutation’s effect on the enzymatic activity, Crigler-Najjar syndrome type 1 (a complete absence of enzymatic activity) or Crigler-Najjar syndrome[emedicine.medscape.com]

  • Familial Hypercholanemia

    Alagille syndrome, citrullinemia type 2, Crigler-Najjar syndrome types 1 and 2, Dubin-Johnson syndrome, Gilbert syndrome, intrahepatic cholestasis of pregnancy type 3 or[blueprintgenetics.com] 1-4 E80.6 Dubin-Johnson syndrome E80.5 Crigler-Najjar syndrome types 1 and 2 E80.4 Gilbert syndrome Q44.7 Alagille syndrome K83.1 Intrahepatic cholestasis of pregnancy type[blueprintgenetics.com] The Blueprint Genetics cholestasis panel covers classical genes associated with progressive familial intrahepatic cholestasis types 1-4, Dubin-Johnson syndrome, Crigler-Najjar[blueprintgenetics.com]

  • Neonatal Jaundice

    In Crigler-Najjar syndrome type 1, there is complete absence of UDP glucuronosyltransferase activity, and the result is bilirubin encephalopathy in the first days to months[omicsonline.org] Crigler-Najjar syndromes type 1 and 2 : These rare syndromes are caused by autosomal recessive mutations that result in total UDP-glucoronyltransferase deficiency (type 1)[pathophys.org] A novel stop codon mutation in exon 1 (558C A) of the UGT1A1 gene in a Thai neonate with Crigler-Najjar syndrome type I.[thieme-connect.com]

  • Hereditary North American Indian Childhood Cirrhosis

    Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Cystic fibrosis Dubin-Johnson syndrome Erythrocyte galactose epimerase deficiency FTH1[se-atlas.de] syndrome type I Leprechaunism, fructose 1.6 diphosphatase deficiency First 2 mo Wolman disease, tyrosinemia, perinatal hemochromatosis α 1 -Antitrypsin deficiency, NPD type[clinicalgate.com] 1 Congenital bile acid synthesis defect type 2 Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital bronchobiliary fistula[se-atlas.de]

  • Physiological Neonatal Jaundice

    syndrome types 1 and 2 Gilbert syndrome Hypothyroidism Breast milk jaundice Characteristics: increased unconjugated and conjugated bilirubin level, negative Coombs' test,[aafp.org] Crigler-Najjar syndromes type 1 and 2 : These rare syndromes are caused by autosomal recessive mutations that result in total UDP-glucoronyltransferase deficiency (type 1)[pathophys.org] […] and Rotor syndrome* Parenteral nutrition Tumor or band* (extrinsic obstruction) Undersecretion due to metabolic-endocrine conditions Crigler-Najjar syndrome (familial nonhemolytic[msdmanuals.com]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Preferred Name Crigler-Najjar syndrome, type I Synonyms Deficiency of glucuronosyltransferase ID Active 1 altLabel Deficiency of glucuronosyltransferase Crigler-Najjar syndrome[purl.bioontology.org] […] thumbs, congenital Crigler Najjar syndrome, type 1 Macroepiphyseal dysplasia with osteoporosis, wrinkled skin, and aged appearance Mitochondrial complex II deficiency Severe[checkrare.com] And Dental Anomalies 1 Craniosynostosis, Type 1 4 Craniosynostosis, Type 2 1 Crigler-Najjar Syndrome, Type I 1 Crigler-Najjar Syndrome, Type II 1 Crouzon Syndrome 5 Crouzon[preventiongenetics.com]

  • Chudley-Rozdilsky Syndrome

    Cri du chat syndrome Crigler Najjar syndrome type 1 Crigler Najjar syndrome type 2 Crisponi syndrome Crohn's disease of the esophagus Crome syndrome Cronkhite-Canada disease[personalizedcause.com] Cribriform carcinoma - See Adenoid cystic carcinoma Crigler Najjar syndrome type 2 - See Crigler-Najjar syndrome type 2 Crigler Najjar syndrome, type 1 Crigler-Najjar syndrome[elbiruniblogspotcom.blogspot.com] syndrome, type 1 * Crigler Najjar syndrome, type 2 * Crisponi syndrome * Crohn’s disease, pediatric * Crohn's disease of the esophagus * Crome syndrome * Cronkhite-Canada[medicalgeek.com]

  • IgG4-Related Hepatopathy

    Crigler-Najjar syndrome Crigler-Najjar syndrome type 1 Crigler-Najjar syndrome type 2 Cystic fibrosis Dubin-Johnson syndrome Erythrocyte galactose epimerase deficiency FTH1[se-atlas.de] 1 Congenital bile acid synthesis defect type 2 Congenital bile acid synthesis defect type 3 Congenital bile acid synthesis defect type 4 Congenital bronchobiliary fistula[se-atlas.de] […] syndrome CADDS Caroli disease Cerebrotendinous xanthomatosis Cholestasis-lymphedema syndrome Cirrhotic cardiomyopathy Classic galactosemia Congenital bile acid synthesis defect type[se-atlas.de]

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