Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 21-08-2015
Symbol ILFS2
Location 2p24.3
Name infantile liver failure syndrome 2
Corresponding gene NBAS
Main clinical features
  • recurrent episodes of acute liver failure during intercurrent febrile illness, onset of recurrent acute liver failure in infancy, in the first 2 years of life
  • episodic liver failure precipitated by intercurrent febrile illness, and liver function recovered completely with conservative management in the interval; crises were manifest by vomiting, lethargy, increased liver enzymes, jaundice, and coagulopathy
  • patient fibroblasts showed a reduction of NBAS levels to 18 to 36p100 of control values, indicating a substantial impairment of protein translation and/or stability
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease
    Remark(s)
  • all mutations, which are not predicted to cause a loss of function, are clustered in two regions in the first half of the gene, exons 812 and exons 2128 (PMID: 26073778))