National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Farber disease


Other Names:
Farber lipogranulomatosis; Ceramidase deficiency; Acid ceramidase deficiency; Farber lipogranulomatosis; Ceramidase deficiency; Acid ceramidase deficiency; AC deficiency; N-Laurylsphingosine deacylase deficiency; Farber's disease See More
Categories:
This disease is grouped under:
Farber disease is an inherited lipid storage disease in which an excess amount of fat builds up in the joints, tissues, and central nervous system. Symptoms of Farber disease include 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. The symptoms tend to get worse over time and lead to a shortened lifespan. There are multiple types of Farber disease classified by the severity and nervous system involvement. Farber disease occurs when the ASAH1 gene is not working correctly and is inherited in an autosomal recessive pattern. It is diagnosed based on clinical exam, the symptoms, and enzyme and genetic testing. Treatment is focused on managing the symptoms. Stem cell transplant is an option for some patients.[1][2][3] 
   
Last updated: 6/12/2020
The following list includes the most common signs and symptoms in people with Farber disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition

Signs and symptoms of Farber disease may include:[1][2]
  • Joint pain and swelling (arthralgia)
  • Failure to thrive
  • Enlarged liver (hepatomegaly)
  • Hoarse cry due to a soft, floppy voice box (laryngomalacia)
  • Lumps of fat under the skin and around the joints (periarticular subcutaneous nodules)
  • Short stature
  • Developmental delay
Symptoms typically appear in the first few weeks of life. In severe cases, both the liver and spleen are enlarged. Seven types of Farber disease have been described, each with slightly different characteristics. Types 4 and 5 are generally associated with severe neurological problems.[1]
Last updated: 6/15/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormal enzyme/coenzyme activity 0012379
Arthritis
Joint inflammation
0001369
Flexion contracture
Flexed joint that cannot be straightened
0001371
Joint swelling 0001386
Periarticular subcutaneous nodules 0007470
30%-79% of people have these symptoms
Arthralgia
Joint pain
0002829
Cherry red spot of the macula 0010729
EMG: chronic denervation signs 0003444
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Foam cells in visceral organs and CNS 0003640
Global developmental delay 0001263
Hoarse cry 0001615
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
5%-29% of people have these symptoms
Abnormal conjunctiva morphology 0000502
Abnormal epiglottis morphology 0005483
Abnormality of the elbow
Abnormality of the elbows
0009811
Abnormality of the knee 0002815
Abnormality of the sternum
Sternal anomalies
0000766
Abnormality of the wrist
Abnormalities of the wrists
0003019
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Brain atrophy
Brain degeneration
Brain wasting
[ more ] 		0012444
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Diffuse reticular or finely nodular infiltrations 0002207
Dysphonia
Inability to produce voice sounds
0001618
Feeding difficulties
Feeding problems
Poor feeding
[ more ] 		0011968
Hepatosplenomegaly
Enlarged liver and spleen
0001433
Laryngeal stridor 0006511
Macular degeneration 0000608
Mutism
Inability to speak
Muteness
[ more ] 		0002300
Myoclonus 0001336
Nodular pattern on pulmonary HRCT 0025392
Osteoporosis 0000939
Recurrent fever
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] 		0001954
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ] 		0002098
Respiratory insufficiency
Respiratory impairment
0002093
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Visual fixation instability 0025405
Weak cry 0001612
1%-4% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Anemia
Low number of red blood cells or hemoglobin
0001903
Ascites
Accumulation of fluid in the abdomen
0001541
Chronic diarrhea 0002028
Elevated hepatic transaminase
High liver enzymes
0002910
Hepatic failure
Liver failure
0001399
Hepatic fibrosis 0001395
Hydrops fetalis 0001789
Infantile spasms 0012469
Intrahepatic cholestasis with episodic jaundice 0006575
Loss of voice 0001686
Lymphadenopathy
Swollen lymph nodes
0002716
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Opacification of the corneal stroma 0007759
Paraparesis
Partial paralysis of legs
0002385
Short finger
Stubby finger
0009381
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Hepatomegaly
Enlarged liver
0002240
Irritability
Irritable
0000737
Lipogranulomatosis 0040139
Motor delay 0001270
Progressive
Worsens with time
0003676
Splenomegaly
Increased spleen size
0001744
Variable expressivity 0003828
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Last updated: 7/1/2020
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.[2]
Last updated: 6/15/2020
Farber disease is inherited in an autosomal recessive pattern.[2] All individuals inherit two copies of each gene. 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). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition. 
Last updated: 6/15/2020
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.[2][4]  
Last updated: 6/15/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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 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.[1][3]

Specialists involved in the care of someone with Farber disease may include:
  • Medical geneticist
  • Neurologist 
  • Rheumatologist
  • Pain management specialist
  • Otolaryngologist (ENT)
Last updated: 6/15/2020
Farber disease is very rare. Less than 200 people with Farber disease have been described in the medical literature. The exact number of people with this condition is unknown.[2]
Last updated: 6/15/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

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 helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 disease. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Zielonka M, arbade SF, Kölker S, Hoffmann GF, Ries M. A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features. Genet Med. 2018; 20(5):524-530. https://pubmed.ncbi.nlm.nih.gov/29048419.
  2. Yu FPS, Amintas S, Levade T, Medin JA. Acid ceramidase deficiency: Farber disease and SMA-PME. Orphanet J Rare Dis. 2018; 13(1):121. https://pubmed.ncbi.nlm.nih.gov/30029679.
  3. Ehlert K, Levade T, Di Rocco M, et al. Allogeneic hematopoietic cell transplantation in Farber disease. J Inherit Metab Dis. 2019; 42(2):286-294. https://pubmed.ncbi.nlm.nih.gov/30815900.
  4. Schuchman EH. Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy. Biochim Biophys Acta. 2016; 1862(9):1469-1471. https://pubmed.ncbi.nlm.nih.gov/27155573.