Intermittent fever. Recurrent colds. Breathing difficulties. Difficulty breathing. Respiratory impairment. Decreased body height. Small stature. Muscle degeneration. Muscle wasting. Involuntary muscle stiffness, contraction, or spasm. Unusual facial appearance. Low number of red blood cells or hemoglobin. Accumulation of fluid in the abdomen. High liver enzymes. Liver failure. Swollen lymph nodes. Involuntary, rapid, rhythmic eye movements.
Partial paralysis of legs. Stubby finger. Short toes. Stubby toes. Low platelet count. Enlarged liver. Worsens with time. Increased spleen size.
Do you have more information about symptoms of this disease? We want to hear from you. Cause Cause. Farber disease occurs when the ASAH1 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. Inheritance Inheritance. Farber disease is inherited in an autosomal recessive pattern. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers.
Carriers of an autosomal recessive condition typically do not have any signs or symptoms they are unaffected.
Diagnosis Diagnosis. Farber disease is diagnosed through a clinical history and exam and specialized tests looking for abnormalities in white blood cells.
Genetic testing may also be used to confirm the diagnosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Orphanet lists international laboratories offering diagnostic testing for this condition. Treatment Treatment. Treatment for Farber disease is focused on managing the symptoms.
Corticosteroids can be given to help with pain. Individuals with difficulty breathing due to swelling and abnormal fat build-up in the upper airway may require a breathing tube tracheostomy. In some cases, surgery or a bone marrow transplant may be helpful. Statistics Statistics. Farber disease is very rare. Less than people with Farber disease have been described in the medical literature. The exact number of people with this condition is unknown. Do you have updated information on this disease?
Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.
You can also learn more about genetic consultations from MedlinePlus Genetics. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet. Differential diagnoses include juvenile idiopathic arthritis, stiff skin syndrome and lethal restrictive dermopathy. Encephalopathy due to prosaposin deficiency should also be excluded. Visit the Orphanet disease page for more information. Research Research.
Clinical Research Resources Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. Living With Living With. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability.
Older persons may have granulomas surgically reduced or removed. Children born with the most severe form of the disease usually die within 6 months, while individuals having a milder form of the disease may live into their teenage years or young adulthood. Skip to main content. Submit Search. You are here Home » Disorders » All Disorders. Farber's Disease Information Page. What research is being done? See More About Research.
Show More. Show Less. Search Disorders. Sikora, J. Acid ceramidase deficiency in mice results in a broad range of central nervous system abnormalities. Singh, I. Cytokine-mediated induction of ceramide production is redox-sensitive. Implications to proinflammatory cytokine-mediated apoptosis in demyelinating diseases. Polyarticular arthritis as presenting feature of Farber disease: a lysosomal storage disease involving inflammation.
Sugita, M. Science , — Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase.
Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis. Torcoletti, M. Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation.
Rheumatology Oxford 53 , — Tsuboi, K. Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase. Vasiliauskaite-Brooks, I. Structural insights into adiponectin receptors suggest ceramidase activity. Nature , — Yeager, A. Bone marrow transplantation for infantile ceramidase deficiency Farber disease. Bone Marrow Transplant.
Yu, F. Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. Lung Cell. Zaugg, P. Sorting of murine vascular smooth muscle cells during wound healing in the chicken chorioallantoic membrane. Zhang, Z. Human acid ceramidase gene: novel mutations in Farber disease. Zhou, J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Your documents are now available to view. Confirm Cancel.
From the journal Biological Chemistry. Supplementary Materials Cite this. You currently have no access to view or download this content.
Please log in with your institutional or personal account if you should have access to this content through either of these. Showing a limited preview of this publication:. Abstract Farber disease FD is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation.
Keywords: acid ceramidase ; ceramide ; Farber disease ; lysosomal storage disorders. Acknowledgments We thank S. Received: Accepted: Published Online: Published in Print: Beckmann, N. Pathological manifestations of Farber disease in a new mouse model. Biological Chemistry , 10 , Biological Chemistry, Vol. Biological Chemistry.
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