Farber's Disease

Common Name(s)

Farber's Disease, Farber's lipogranulomatosis

Farber lipogranulomatosis is an autosomal recessive lysosomal storage disorder characterized by early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement. Based on the age of onset, the severity of symptoms, and the difference in organs affected, 6 clinical subtypes due to deficiency of acid ceramidase have been distinguished. The most severe form is subtype 4, a rare neonatal form of the disease with death occurring before 1 year of age (summary by {2:Alves et al., 2013)}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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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
CNS Foundation

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

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details

 

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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

There are currently no open clinical trials for this condition.