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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-01-2012
Symbol TCHF
Location 12q13
Name transient childhood hypertriglyceridemia and fatty liver followed by hepatic fibrosis
Corresponding gene GPD1
Main clinical features
  • moderate to severe transient hypertriglyceridemia in infancy and early childhood that normalizes with age
  • associated with hepatomegaly and moderately elevated transaminases that may decrease later in life, persistent fatty liver, and the development of hepatic fibrosis
  • Genetic determination autosomal recessive
    Function/system disorder digestive tract/liver and annex
    Type disease