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References OMIM Gene GeneReviews HGMD HGNC
last update : 20-08-2012
Symbol FLGD
Location 8p22
Name Farber lipogranulomatosis
Other name(s)
  • acide ceraminase deficiency
  • N-Laurylsphingosine deacylase deficiency
  • Farber diseasse
  • Corresponding gene ASAH1
    Main clinical features
  • characterized by the triad of painful and deformed joints, periarticular subcutaneous nodules, progressive hoarseness due to laryngeal involvement
  • associated to moderate nervous dysfuntion, lungs, heart and lymph nodes involvement, often leading to death within the first two years
  • Genetic determination autosomal recessive
    Related entries including five subtypes differing in severity and site of major involvement:: * In the classic type 1, the diagnosis can be made almost at a glance by the triad of subcutaneous nodules, arthritis, and laryngeal involvement * types 2 and 3 survive longer (liver and lung appear not to be involved) with normal intelligence in many of these patients * type 4 patients present with hepatosplenomegaly and severe debility in the neonatal period and all die before 6 months of age * type 5, characterized particularly by psychomotor deterioration beginning at age 1 to 2.5 years
    Function/system disorder metabolism/lysosomal
    Type disease