Farber's Disease

Common Name(s)

Farber's Disease, Farber's lipogranulomatosis

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.  
   
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Farber's Disease" for support, advocacy or research.

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Farber's Disease" for support, advocacy or research.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Farber's Disease" returned 4 free, full-text research articles on human participants. First 3 results:

Farber's disease without central nervous system involvement: bone-marrow transplantation provides a promising new approach.
 

Author(s): K Ehlert, J Roth, M Frosch, N Fehse, N Zander, J Vormoor

Journal: Ann. Rheum. Dis.. 2006 Dec;65(12):1665-6.

 

Last Updated: 19 Nov 2006

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Farber's disease (lysosomal acid ceramidase deficiency).
 

Author(s): R A Jameson, P J Holt, J H Keen

Journal: Ann. Rheum. Dis.. 1987 Jul;46(7):559-61.

 

The patient presented with progressive joint deformity, a hoarse voice, subsequent cachexia, and myoclonic seizures. She was first seen aged 22 months and died aged 6 years. A diagnosis of Farber's disease was made by demonstrating a deficiency of acid ceramidase both in leucocytes and fibroblasts.

Last Updated: 3 Nov 1987

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Above-normal urinary excretion of urinary ceramides in Farber's disease, and characterization of their components by high-performance liquid chromatography.
 

Author(s): M Iwamori, H W Moser

Journal: Clin. Chem.. 1975 May;21(6):725-9.

 

We compared the sphingolipid content of urine from a patient with Farber's disease with that of control urine. The ceramides were measured by high-performance liquid chromatography. The patient's urine contained 1.2 mug of ceramides per milligram of creatinine, more than 200-fold ...

Last Updated: 1 Jul 1975

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Farber's Disease" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Farber Disease
 

Status: Recruiting

Condition Summary: Farber's Lipogranulomatosis; Ceramidase Deficiency; Farber Disease; Acid Ceramidase Deficiency; AC Deficiency

 

Last Updated: 3 Mar 2015

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