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GENATLAS PHENOTYPE
last update : 16-12-2015
Symbol NAIC
Location 16q22.1
Name north america indian childhood cirrhosis
Corresponding gene UTP4
Other symbol(s) CIRH1A
Main clinical features
  • transient neonatal jaundice that progresses to biliary cirrhosis requiring hepatic transplantation in childhood or early adulthood
  • biochemical and histopathologic features of the disease suggest involvement of the bile ducts rather than of the bile canaliculi
  • elevated gamma-glutamyltransferase and alkaline phosphatase levels and, typically, marked fibrosis around portal bile ducts
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function homozygous for R565W mutation, missense mutation in the C-terminus (PMID: 20385600) )
    Remark(s) . may be caused by dysfunctional pre-ribosome assembly due to the loss of an interaction between the C-terminus of CIRH1A and another small subunit processome protein (PMID: 20385600))