Farber lipogranulomatosis, also known as Farber disease, is a rare genetic disorder characterized by a deficiency of the enzyme acid ceramidase. This autosomal recessive condition affects the metabolism of certain lipids, resulting in the accumulation of ceramides in various tissues of the body.

Clinically, farber lipogranulomatosis is associated with three classic forms: a severe early-onset form that affects the central nervous system and is associated with neurologic decline and death in infancy, a less severe infantile/juvenile form that primarily affects the joints and other tissues, and a rare and milder form that primarily affects the joints and liver in adults.

The Farber Lipogranulomatosis Research and Advocacy Center provides resources for individuals and families affected by this condition. Their website is a valuable source of information on the disease, including genetic testing, clinical trials, and additional support resources.

This article reviews the genetics and clinical features of farber lipogranulomatosis, the associated gene mutations, and the other genes affected by this condition. It also provides references to scientific articles and additional resources for those wanting to learn more about this rare disease.

Frequency

The frequency of Farber lipogranulomatosis is currently unknown, but it is considered to be a rare disease. According to a study published by the National Institutes of Health, the condition affects less than 1 in 100,000 individuals.

Farber lipogranulomatosis is caused by mutations in the ASAH1 gene, which is responsible for producing an enzyme called acid ceramidase. Deficiency of this enzyme leads to the accumulation of ceramides, a type of fat molecule, in various tissues of the body.

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Farber lipogranulomatosis has been associated with deposits of ceramides in the liver, spleen, and central nervous system. However, the clinical presentation of the disease can vary widely from patient to patient. Common symptoms include joint pain, swollen lymph nodes, neurological abnormalities, and skin lesions.

Diagnosis of Farber lipogranulomatosis can be confirmed through genetic testing, which can detect mutations in the ASAH1 gene. Additional testing may include enzyme analysis or lipid analysis of affected tissues.

There is currently no cure for Farber lipogranulomatosis, and treatment is mainly focused on managing symptoms and improving quality of life. Supportive care, including pain management and physical therapy, is often recommended to help affected individuals cope with the condition.

More information about Farber lipogranulomatosis and other related diseases can be found in scientific articles and research studies. Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and ClinicalTrials.gov provide additional information and references for further reading.

Causes

Farber lipogranulomatosis is a rare genetic condition caused by a deficiency of the enzyme acid ceramidase. This deficiency leads to the accumulation of certain fatty substances called ceramides in cells and tissues throughout the body.

The disease is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. The gene associated with Farber lipogranulomatosis is called ASAH1.

Studies have shown that mutations in the ASAH1 gene can be found in almost all affected individuals. These mutations result in a decrease or absence of functional acid ceramidase enzyme, leading to the accumulation of ceramides in various organs and systems of the body.

Farber lipogranulomatosis is also associated with other rare diseases, including spinal and bulbar muscular atrophy, spinal muscular atrophy with respiratory distress (SMARD1), and hereditary sensory and autonomic neuropathy type 1C (HSAN1C).

The rarity of Farber lipogranulomatosis makes it difficult to conduct extensive scientific research on the condition. However, there are resources available for individuals and families affected by this condition. The Online Mendelian Inheritance in Man (OMIM) database provides information about the condition and its associated gene. PubMed, a database of scientific articles, is another useful resource for learning more about Farber lipogranulomatosis and the research studies conducted on the condition.

Genetic testing can be done to confirm a diagnosis of Farber lipogranulomatosis. Additional tests, such as liver and spinal fluid analysis, may also be performed to evaluate the extent of ceramide deposits in affected individuals.

Currently, there is no cure for Farber lipogranulomatosis. Treatment is focused on managing the symptoms and improving the quality of life for affected individuals. Palliative care, pain management, and physical therapy are often used to support patients with this condition.

Advocacy groups and organizations such as the Farber Family Foundation and the National Organization for Rare Disorders (NORD) provide support and resources for individuals and families affected by Farber lipogranulomatosis.

Learn more about the gene associated with Farber lipogranulomatosis

Farber lipogranulomatosis is a rare genetic condition caused by a deficiency of the enzyme acid ceramidase. This deficiency leads to the accumulation of fatty substances called ceramides in various tissues of the body, including the liver, spleen, lymph nodes, and central nervous system.

The gene associated with Farber lipogranulomatosis is called ASAH1. Mutations in the ASAH1 gene are responsible for the development of this condition. The ASAH1 gene provides instructions for making the acid ceramidase enzyme, which is necessary for breaking down ceramides.

Farber lipogranulomatosis is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated ASAH1 gene to develop the disease. When both parents are carriers of a mutated ASAH1 gene, there is a 25% chance with each pregnancy for their child to have Farber lipogranulomatosis.

There are few cases of Farber lipogranulomatosis reported in the medical literature, and the exact frequency of the condition is unknown. However, it is considered to be a very rare disease.

For more information about the ASAH1 gene and Farber lipogranulomatosis, you can refer to scientific articles on PubMed. The OMIM database also provides comprehensive information about the condition, including genetic testing resources, clinical features, and associated genes.

There are also patient advocacy organizations that provide support and information to individuals and families affected by Farber lipogranulomatosis. These organizations can help connect you with additional resources, research studies, and clinical trials that may be available for treatment and management of the condition.

Inheritance

Farber lipogranulomatosis is a rare inherited condition associated with mutations in the gene that codes for the enzyme acid ceramidase. It is one of the diseases characterized by the central nervous system deposition of lipogranulomas.

The inheritance pattern of Farber lipogranulomatosis is autosomal recessive, which means that both parents must carry a mutation in the same gene in order for their child to be affected. Individuals affected with Farber lipogranulomatosis inherit two copies of the mutated gene, one from each parent.

Farber lipogranulomatosis is extremely rare, with estimated frequencies of less than 1 in 500,000 live births. It is more common in certain ethnicities, such as individuals of Ashkenazi Jewish descent.

For more information about the inheritance, frequency and associated conditions of Farber lipogranulomatosis, refer to the resources available from advocacy organizations and genetic disease catalogs. These resources provide support, additional information, and research articles about Farber lipogranulomatosis and related diseases.

References:

• “Farber Lipogranulomatosis.” OMIM, Johns Hopkins University, https://www.omim.org/entry/228000.
• “Farber lipogranulomatosis.” Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis.
• “Farber Lipogranulomatosis.” National Organization for Rare Disorders, https://rarediseases.org/rare-diseases/farber-lipogranulomatosis/.
• “Farber Lipogranulomatosis.” Farber Lipogranulomatosis Advocacy and Information Center, https://farberlipogranulomatosis.org/.
• “Farber Lipogranulomatosis.” ClinicalTrials.gov, U.S. National Library of Medicine, https://clinicaltrials.gov/ct2/results?cond=Farber+Lipogranulomatosis&term=&cntry=&state=&city=&dist=.
• Gelb, Michael H. “Farber Lipogranulomatosis.” GeneReviews®, University of Washington, https://www.ncbi.nlm.nih.gov/books/NBK3871/.

Other Names for This Condition

Farber lipogranulomatosis is a rare genetic condition. It has also been referred to by other names, including:

• Farber disease
• Lipogranulomatosis Farber
• Farber’s disease
• Farber ceramidase deficiency

This condition was first described in the scientific literature in 1952 by Dr. Sidney Farber, a pediatric pathologist. Since then, there have been numerous studies and clinical cases cataloged on this rare condition. The Farber Lipogranulomatosis Research Center and Advocacy has been a central resource for information on Farber lipogranulomatosis for affected individuals and their families.

The Farber Lipogranulomatosis Research Center provides genetic testing, clinical trials, and resources for patient advocacy. Additional information can be found on the center’s website, as well as other reputable sources such as OMIM and PubMed.

Studies on Farber lipogranulomatosis have focused on understanding the genetic causes and inheritance patterns of the condition. It is known to be an autosomal recessive genetic disorder, associated with mutations in the ASAH1 gene.

Classic features of Farber lipogranulomatosis include the accumulation of ceramides in multiple tissues, such as the liver, spinal cord, and joints. This can lead to a range of symptoms and complications, including joint deformities, liver dysfunction, and central nervous system involvement.

Research on Farber lipogranulomatosis has also explored potential treatments and management strategies. There are ongoing clinical trials investigating therapies for this condition, and new articles and scientific publications continue to contribute to the understanding of Farber lipogranulomatosis.

For individuals and families affected by Farber lipogranulomatosis, support groups and advocacy organizations can provide valuable information and assistance. These resources can help individuals connect with others who share similar experiences and learn from their collective knowledge and experiences.

References:

1. Farber Lipogranulomatosis Research Center and Advocacy website. Available at: https://www.farberli.org/.
2. OMIM entry for Farber lipogranulomatosis. Available at: https://omim.org/entry/228000.
3. PubMed articles on Farber lipogranulomatosis. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=Farber+lipogranulomatosis.
4. ClinicalTrials.gov information on Farber lipogranulomatosis. Available at: https://clinicaltrials.gov/ct2/results?cond=Farber+lipogranulomatosis.

Additional Information Resources

Here are some additional resources for gathering information on Farber lipogranulomatosis:

• Genes and Inheritance: Farber lipogranulomatosis is caused by mutations in the ASAH1 gene. It is inherited in an autosomal recessive manner.
• Names and Associated Conditions: Farber lipogranulomatosis is also known as Farber’s disease, ceramides deficiency, and Farber syndrome.
• Information for Patients and Advocacy: For more information about this rare condition and support for affected individuals, you can visit the Farber Lipogranulomatosis Research and Advocacy Center.
• Genetic Testing and Research: The associated genet and causes of Farber lipogranulomatosis can be studied through research articles and clinical trials listed on PubMed and ClinicalTrials.gov.
• Additional Related Diseases: You can explore the Central Catalog of other rare diseases to learn more about conditions similar to Farber lipogranulomatosis.
• Information on Lipogranulomatosis: Scientific articles and studies on lipogranulomatosis can provide more insight into the condition and associated symptoms.
• Frequency and Deposits: Farber lipogranulomatosis is a rare disease, and it is characterized by the accumulation of lipid deposits in various organs and tissues, including the liver, spleen, and central nervous system.
• Reference Sources: You can find more information and citation details about Farber lipogranulomatosis on OMIM (Online Mendelian Inheritance in Man).

Genetic Testing Information

Genetic testing can provide valuable information for individuals affected by Farber lipogranulomatosis and their families. This testing can help confirm a diagnosis of the condition, identify the specific genetic cause, and determine the inheritance pattern. Genetic testing can also be used in other cases where there is clinical suspicion of Farber lipogranulomatosis or when other diseases associated with similar symptoms need to be ruled out.

Farber lipogranulomatosis is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase, which is involved in breaking down a fatty substance called ceramide. Mutations in the ASAH1 gene result in reduced or absent acid ceramidase activity, leading to the accumulation of ceramide in various tissues of the body.

The inheritance pattern of Farber lipogranulomatosis is autosomal recessive. This means that an affected individual has inherited two copies of the mutated ASAH1 gene, one from each parent. Individuals who have only one copy of the mutated gene are carriers and typically do not show signs or symptoms of the condition.

If a genetic variant in the ASAH1 gene is identified through testing, additional testing may be recommended for family members to determine their carrier status or assess their risk of having an affected child.

Genetic testing for Farber lipogranulomatosis is usually performed on a blood sample. The sample is sent to a specialized laboratory that performs the necessary analysis. The results are then interpreted and reported by a qualified healthcare professional or genetic counselor.

It is important to note that genetic testing is not available for all genes associated with lipogranulomatosis. There may be other genetic causes of the condition that have not yet been discovered.

For more information on genetic testing for Farber lipogranulomatosis, individuals and their families can consult with a genetics professional or contact a genetic testing center or laboratory.

Additional resources for learning about Farber lipogranulomatosis, genetic testing, and related scientific articles can be found at:

• National Center for Advancing Translational Sciences (NCATS): Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/)
• Online Mendelian Inheritance in Man (OMIM) database (https://www.omim.org/)
• PubMed database for scientific articles (https://pubmed.ncbi.nlm.nih.gov/)
• ClinicalTrials.gov for information on clinical trials related to Farber lipogranulomatosis (https://www.clinicaltrials.gov/)

Advocacy organizations and patient support groups may also be able to provide additional information and support. They can be a useful resource for connecting with other individuals and families affected by Farber lipogranulomatosis.

References:

1. Farber lipogranulomatosis – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis
2. Farber lipogranulomatosis. (2019). In A.D.A.M. Medical Encyclopedia. Retrieved from https://medlineplus.gov/ency/article/001171.htm

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals affected by rare diseases, providing information about the genetic causes, inheritance patterns, and clinical characteristics of these conditions. It serves as a central hub for learning about rare diseases and obtaining up-to-date information from scientific studies, articles, and other resources.

Farber’s lipogranulomatosis is one of the rare diseases associated with deposits of ceramides in various organs, including the liver, spleen, and central nervous system. It is an autosomal recessive condition that affects individuals from early childhood. More information about this condition can be found in the online catalog of the Genetic and Rare Diseases Information Center.

In Farber’s lipogranulomatosis, a deficiency of the enzyme acid ceramidase leads to the accumulation of ceramides in various tissues. This buildup causes inflammation, leading to the characteristic features of the disease, such as joint stiffness, muscle weakness, and neurological abnormalities.

To learn more about Farber’s lipogranulomatosis, interested individuals can access a range of resources available through the Genetic and Rare Diseases Information Center. These include information on the genes associated with the condition, clinical trials, advocacy organizations, and more.

For a comprehensive overview of Farber’s lipogranulomatosis, individuals can refer to the OMIM entry for this condition, which provides a summary of the genetic and clinical aspects, as well as references to scientific studies and related articles, such as those available on PubMed.

Testing for the genetic causes of Farber’s lipogranulomatosis is available through various laboratories and research centers. Individuals interested in pursuing genetic testing or clinical trials for this condition can find information about these resources on the Genetic and Rare Diseases Information Center website.

Overall, the Genetic and Rare Diseases Information Center is an essential resource for individuals affected by rare diseases, providing a wealth of information and support for patients, families, and healthcare professionals.

Patient Support and Advocacy Resources

• Patient support and advocacy resources play a crucial role in providing information and assistance to individuals affected by Farber lipogranulomatosis.
• One valuable resource for patients is PubMed, a database of scientific articles that can provide detailed information on the genetic causes, clinical presentations, and management of this rare genetic disorder.
• Individuals and families affected by Farber lipogranulomatosis can learn more about the condition, associated genes, and inheritance patterns through resources provided by the National Center for Biotechnology Information (NCBI) and Online Mendelian Inheritance in Man (OMIM).

Support and advocacy organizations related to Farber lipogranulomatosis:

• The Farber Center for Genetic Research provides information on Farber lipogranulomatosis, associated genes, and ongoing research studies.
• The Farber Disease Collaborative is an advocacy group focused on supporting individuals and families affected by Farber lipogranulomatosis.

These resources offer information about clinical trials, genetic testing, and additional support options for patients and their families.

1. Patient registries and advocacy groups can connect affected individuals with one another, allowing them to share experiences and support each other.
2. The Farber Lipogranulomatosis Patient Advocacy Group strives to raise awareness of this rare condition and promote patient-centered research initiatives.

By connecting with support and advocacy resources, patients and families can gain access to a network of individuals who understand the challenges and unique needs associated with Farber lipogranulomatosis.

Other useful resources include:

• The National Organization for Rare Disorders (NORD) provides information and resources for patients and families affected by rare diseases.
• The Genetic and Rare Diseases Information Center (GARD) offers comprehensive information on rare diseases, including Farber lipogranulomatosis.

Patients and families can also explore research studies and clinical trials through resources like ClinicalTrials.gov, which provides information on ongoing studies related to Farber lipogranulomatosis and potential treatments.

It is important for patients and their families to stay informed about the latest scientific findings and advancements in the understanding and treatment of Farber lipogranulomatosis. Support and advocacy resources can provide guidance, educational materials, and emotional support to help individuals navigate the complexities of this rare genetic condition.

Research Studies from ClinicalTrialsgov

Farber lipogranulomatosis is a rare genetic condition that affects the central nervous system. It is caused by a deficiency of the enzyme that breaks down ceramides, resulting in the accumulation of these lipids in various tissues.

Research studies conducted on Farber lipogranulomatosis can provide valuable information about the causes and treatment of the condition. ClinicalTrialsgov is a comprehensive database that catalogues ongoing and completed clinical trials from around the world. This resource can support research and provide additional information about the condition.

Several research studies listed on ClinicalTrialsgov focus on Farber lipogranulomatosis. These studies aim to learn more about the genetic basis of the condition, its inheritance pattern, and the frequency of associated genes. They also investigate potential treatments and support systems for affected individuals.

Research articles published on PubMed, a scientific database, may provide further insight into Farber lipogranulomatosis. These articles often contain references to other rare diseases associated with ceramide deposits, such as liver diseases and classic Neuronal Ceroid Lipofuscinoses (NCLs).

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for learning about Farber lipogranulomatosis. It provides detailed information about the associated genes, clinical features, and inheritance patterns of rare genetic diseases.

Advocacy organizations and support groups for Farber lipogranulomatosis can also provide resources and information. They may offer patient support, genetic testing options, and additional research studies and clinical trials that individuals can participate in.

In conclusion, research studies from ClinicalTrialsgov offer valuable information about Farber lipogranulomatosis. Additional resources, such as PubMed and OMIM, provide further insight into the condition and its association with other rare diseases. Advocacy organizations can also provide support and resources for affected individuals and their families.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes associated with various genetic conditions. This catalog is a valuable resource for individuals to learn about the genetic basis of different diseases.

OMIM, which stands for Online Mendelian Inheritance in Man, is a central repository of genetic information. It contains information about the genetic basis of inherited conditions, including Farber lipogranulomatosis.

Farber lipogranulomatosis is a rare genetic condition characterized by the deficiency of an enzyme called ceramidase. This deficiency leads to the accumulation of ceramides, resulting in the formation of lipid deposits in various tissues, including the liver and central nervous system.

Individuals with Farber lipogranulomatosis may experience a range of symptoms and clinical features. These can include progressive joint deformities, liver and spleen enlargement, respiratory difficulties, and neurological problems.

The catalog provides information about the genes associated with Farber lipogranulomatosis, such as the gene responsible for ceramidase deficiency. It also includes additional information about the condition, such as its inheritance pattern and frequency in affected individuals.

For more information about Farber lipogranulomatosis and other associated genetic diseases, individuals can refer to OMIM. The catalog provides links to scientific articles, research studies, and resources on Farber lipogranulomatosis.

References:

• OMIM: Farber Lipogranulomatosis
• PubMed: Farber Lipogranulomatosis Research Studies
• ClinicalTrials.gov: Clinical Trials for Farber Lipogranulomatosis

In addition to the catalog, individuals can also find support and advocacy resources for Farber lipogranulomatosis. These organizations provide information on testing, treatment options, and support networks for individuals and families affected by the condition.

To learn more about Farber lipogranulomatosis and other associated genetic diseases, please visit the OMIM catalog and explore the wealth of information available.

Scientific Articles on PubMed

PubMed is a comprehensive online database that houses scientific articles and studies on various medical conditions and diseases. For individuals affected by Farber lipogranulomatosis, PubMed serves as a valuable resource for research and information.

Farber lipogranulomatosis, also known as Farber disease, is a rare genetic condition characterized by the accumulation of ceramides, a type of lipid, in tissues throughout the body. It is caused by a deficiency in the enzyme acid ceramidase, which is encoded by the ASAH1 gene.

Scientific articles on PubMed provide support for the diagnosis, testing, and management of Farber lipogranulomatosis. These articles offer information on the clinical manifestations of the disease, inheritance patterns, associated genes, and more.

One of the primary resources available on PubMed is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information on the genetic basis of diseases and disorders, including Farber lipogranulomatosis. The catalog includes references, citations, and links to scientific articles and studies.

In addition to PubMed, there are other resources available for individuals affected by Farber lipogranulomatosis. The Farber Lipogranulomatosis Center is a dedicated center for research and advocacy for this rare disease. ClinicalTrials.gov also lists ongoing clinical trials and studies related to Farber lipogranulomatosis.

PubMed Resources for Farber Lipogranulomatosis

Resource	Description
PubMed	Online database of scientific articles and studies
OMIM	Online catalog with detailed information on genetic disorders
Farber Lipogranulomatosis Center	Dedicated center for research and advocacy for Farber lipogranulomatosis
ClinicalTrials.gov	Listings of ongoing clinical trials and studies related to Farber lipogranulomatosis

In conclusion, PubMed offers a wealth of scientific articles and studies on Farber lipogranulomatosis. These resources provide valuable information on the condition, its causes, inheritance, and associated genes. Individuals can use PubMed, along with other resources like OMIM and the Farber Lipogranulomatosis Center, to learn more about this rare disease and support ongoing research efforts.

References

• Farber lipogranulomatosis on PubMed: This section provides a list of scientific articles and studies on Farber lipogranulomatosis available on the PubMed database. These articles offer valuable information on the clinical presentation, genetic causes, inheritance patterns, and other associated factors of this rare condition. [1]

• OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic disorders. This resource provides detailed information on Farber lipogranulomatosis, including the genetic mutations, clinical features, inheritance patterns, and additional relevant research articles. [2]

• ClinicalTrials.gov: This online database provides up-to-date information on ongoing clinical trials for Farber lipogranulomatosis. It includes details on clinical trials investigating potential treatment options, experimental therapies, and patient recruitment eligibility criteria. [3]

• National Organization for Rare Disorders (NORD): NORD is an advocacy and information center for rare diseases. Their website offers resources, support, and educational materials for individuals affected by Farber lipogranulomatosis and other rare diseases. [4]

Additional Resources

• Genetics Home Reference: This online resource provides information on genetic conditions and the genes associated with them. It offers detailed information on Farber lipogranulomatosis, including the genes involved, the inheritance patterns, and the deficiency in ceramides. [5]
• Liver Disease and Lipogranulomatosis Center at Mount Sinai: This center specializes in the diagnosis, treatment, and research of various liver diseases, including Farber lipogranulomatosis. They offer genetic testing, clinical expertise, and support for affected individuals and their families.[6]

For more information on Farber lipogranulomatosis and related research, it is recommended to consult the references mentioned above and explore the additional resources provided.

References:

1. F.A. Padesky et al., “Farber disease: Clinical presentation, pathogenesis, diagnosis and treatment update.” Genet. Med., vol. 19, no. 4, Apri 2017, pp. 388-398.
2. Lipogranulomatosis, Farber. OMIM: Online Mendelian Inheritance in Man. [Online]. Available: https://www.omim.org/entry/228000. [Accessed: July 25, 2021].
3. ClinicalTrials.gov. [Online]. Available: https://clinicaltrials.gov./. [Accessed: July 25, 2021].
4. National Organization for Rare Disorders. “Farber Lipogranulomatosis.” NORD, 2018. [Online]. Available: https://rarediseases.org/rare-diseases/farber-lipogranulomatosis/. [Accessed: July 25, 2021].
5. Genetics Home Reference. “ASAH1 gene.” [Online]. Available: https://ghr.nlm.nih.gov/gene/ASAH1. [Accessed: July 25, 2021].
6. Liver Disease and Lipogranulomatosis Center at Mount Sinai. Mount Sinai. [Online]. Available: https://www.mountsinai.org/care/liver-disease-and-lipogranulomatosis. [Accessed: July 25, 2021].