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Genetic and Rare Diseases Information Center (GARD)

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Farber's disease


Other Names for this Disease

  • AC deficiency
  • Acid ceramidase deficiency
  • Ceramidase deficiency
  • Farber disease
  • Farber lipogranulomatosis
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Overview

Farber's disease is an inherited condition involving the breakdown and use of fats in the body (lipid metabolism). People with this condition have an abnormal accumulation of lipids (fat) throughout the cells and tissues of the body, particularly around the joints. Farner's disease is characterized by three classic symptoms: a hoarse voice or weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Other symptoms may include difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. Researchers have described seven types of Farber's disease based on their characteristic features. This condition is caused by mutations in the ASAH1 gene and is inherited in an autosomal recessive manner.[1]  
   
Last updated: 10/8/2014

References

  1. Farber lipogranulomatosis. Genetics Home Reference (GHR). December 2013; http://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis. Accessed 10/8/2014.
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Please contact us with your questions about Farber's disease. We will answer your question and update these pages with new resources and information.

Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Farber's disease. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • AC deficiency
  • Acid ceramidase deficiency
  • Ceramidase deficiency
  • Farber disease
  • Farber lipogranulomatosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.