Crigler-Najjar Syndrome, Type II

Alternative Names

  • Hyperbilirubinemia, Crigler-Najjar Type II
  • HBLRCN2
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

606785

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q37.1

Description

The hereditary hyperbilirubinemias include those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome, Rotor syndrome, and several forms of intrahepatic cholestasis. Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606785.1United Arab EmiratesUnknownYesNM_021027.3:c.983A>GHomozygousAutosomal, RecessiveAli et al. 2011
606785.2United Arab EmiratesNM_000463.3:c.1073A>GHomozygousAutosomal, RecessiveAl-Shamsi et al. 2014
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