Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Farber's Disease


Synonyms of Farber's Disease
  • Acid Ceramidase Deficiency
  • Farber's Lipogranulomatosis

Disorder Subdivisions



    General Discussion
    Farber's disease is a rare inherited metabolic disorder. It is one of the diseases known as lysosomal storage diseases. These are inherited errors of metabolism that happen as the result of the lack or malfunction of a particular enzyme needed to break down complex chemical compounds in the structures within cells known as lysosomes. In this case, the enzyme that is missing is acid ceramidase. The deficiency of this enzyme leads to the accumulation of a substance known as ceramide and is associated with characteristic symptoms and progressive tissue damage, particularly in the joints, liver, lung, and nervous system.

    Farber?s disease is usually recognized by the presence of three symptoms: painful and progressively deformed joints, nodules under the skin, and progressive hoarseness. Other organ systems may also be involved. Farber's disease is inherited as an autosomal recessive genetic trait.

    Organizations related to Farber's Disease
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • Hide & Seek Foundation for Lysosomal Disease Research
      4123 Lankershim Blvd.
      North Hollywood CA 91602-2828
      Phone #: 818-762-8621
      800 #: N/A
      e-mail: info@hideandseek.org
      Home page: http://www.hideandseek.org
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • Vaincre Les Maladies Lysosomales
      2 ter avenue de Fance
      Massy None 91300
      Phone #: 01 -69 -75 40 30
      800 #: --
      e-mail: accueil@vml-asso.org
      Home page: http://www.vml-asso.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html