The ASAH1 gene, also known as acid ceramidase gene, is a gene that encodes for the enzyme acid ceramidase. This enzyme is typically found in lysosomes and is responsible for breaking down ceramides, which are fatty acids that play a role in cell signaling and structural integrity.

Mutations in the ASAH1 gene have been associated with various diseases, including Farber lipogranulomatosis, a rare progressive genetic disorder. Farber lipogranulomatosis is characterized by the accumulation of ceramides in various tissues, leading to changes in the central nervous system, muscular system, and other organ systems.

Individuals with mutations in the ASAH1 gene may experience symptoms such as epilepsy, myoclonic seizures, and spinal muscular atrophy. Additional health conditions associated with ASAH1 gene mutations include reduced muscle tone, cognitive changes, and developmental delay.

Research on the ASAH1 gene and its role in disease is ongoing, and there are databases and resources available for genetic testing and related information. OMIM, PubMed, and ClinVar are some of the databases and registries that catalog scientific articles, genetic variant information, and testing resources for the ASAH1 gene and related conditions.

In summary, the ASAH1 gene is associated with various diseases and conditions, including Farber lipogranulomatosis. Mutations in this gene can lead to progressive changes in health, including epilepsy and muscular atrophy. Research and testing resources are available for individuals and families affected by ASAH1 gene mutations.

Health Conditions Related to Genetic Changes

Genetic changes in the ASAH1 gene have been associated with various health conditions. One such condition is myoclonic epilepsy with or without neurologic deficits. In individuals with this condition, the ASAH1 gene typically carries changes that result in reduced production of an enzyme called acid ceramidase. Acid ceramidase is responsible for breaking down ceramide, a type of fat found in the body.

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When acid ceramidase is not properly produced, ceramide and other related substances begin to accumulate within lysosomes, which are structures within cells that help break down waste materials. The buildup of these substances can lead to the characteristic features of myoclonic epilepsy, such as seizures and muscle jerks.

Genetic changes in the ASAH1 gene can also cause a condition known as Farber disease. Farber disease is a progressive disorder characterized by the buildup of another type of fat called ceramide within body tissues. This buildup leads to the formation of lumps called lipogranulomas, which can cause inflammation and damage to various organs, including the central nervous system, lungs, liver, and muscles.

Testing for genetic changes in the ASAH1 gene can be done through various resources, such as genetic testing laboratories and databases. The Online Mendelian Inheritance in Man (OMIM) database, as well as the Genetic Testing Registry (GTR), provide information on available tests and associated health conditions. Additionally, scientific articles and references listed on PubMed and other scientific databases can provide further information on the genetic changes, health conditions, and associated symptoms.

In summary, genetic changes in the ASAH1 gene can lead to various health conditions, including myoclonic epilepsy and Farber disease. Testing for these genetic changes can be done through various resources and can provide valuable information for diagnosis and treatment.

Farber lipogranulomatosis

Farber lipogranulomatosis is a rare genetic disorder that is characterized by the buildup of fats called ceramides within the lysosomes. This condition is caused by mutations in the ASAH1 gene.

Farber lipogranulomatosis is listed on the Online Mendelian Inheritance in Man (OMIM) database, which provides information on genetic disorders. It is also associated with the Genetic Testing Registry (GTR) and the ClinGen database.

Clinically, Farber lipogranulomatosis is characterized by central nervous system abnormalities, including seizures and myoclonic epilepsy. It can also lead to progressive neurological deterioration, including atrophy of the spinal cord. Other associated symptoms may include muscular changes and reduction in overall health.

There have been various changes and additional information about Farber lipogranulomatosis in scientific articles and references. These resources provide further insight into the disease and its related genes.

Diagnostic testing for Farber lipogranulomatosis typically involves measuring the levels of ceramide in tissues or fluids. Genetic testing can also determine the presence of mutations in the ASAH1 gene. These tests can provide important information for diagnosis and management of the disease.

The Farber lipogranulomatosis variant associated with epilepsy has been described in the scientific literature. This variant may have additional changes and characteristics compared to the classic form of the disease.

For more information on Farber lipogranulomatosis, additional resources and databases such as PubMed and the European Union Database of Genomic Variants (EURO-GeneTest) can be consulted.

In summary, Farber lipogranulomatosis is a progressive genetic disorder characterized by the buildup of ceramides in lysosomes. It can cause a range of symptoms, including seizures, myoclonic epilepsy, and neurological deterioration. Diagnostic testing and research in this field continue to provide further understanding of the disease and its associated genes.

Spinal muscular atrophy with progressive myoclonic epilepsy

Spinal muscular atrophy with progressive myoclonic epilepsy is a genetic condition associated with mutations in the ASAH1 gene. The ASAH1 gene provides instructions for making an enzyme called acid ceramidase, which is involved in the breakdown of a fat molecule called ceramide. Mutations in the ASAH1 gene impair the function of acid ceramidase, leading to an accumulation of ceramide in the lysosomes of cells.

The accumulation of ceramide in the lysosomes is thought to cause the characteristic features of this condition, including progressive muscle weakness and wasting (spinal muscular atrophy) and seizures (epilepsy). Individuals with spinal muscular atrophy with progressive myoclonic epilepsy may also have other neurological features such as myoclonus (involuntary muscle jerking) and ataxia (unsteady movements).

To date, mutations in the ASAH1 gene have been found to be associated with Farber disease, a rare genetic disorder characterized by a buildup of fatty substances in the joints, central nervous system, and other tissues. Spinal muscular atrophy with progressive myoclonic epilepsy is considered a variant of Farber disease, with additional neurological symptoms.

Diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy is typically based on the presence of characteristic symptoms and genetic testing for mutations in the ASAH1 gene. Additional testing, such as electromyography (EMG) and nerve conduction studies, may be done to assess muscle and nerve function.

Treatment for spinal muscular atrophy with progressive myoclonic epilepsy is supportive and focused on managing the symptoms. Physical therapy may help improve muscle strength and mobility, while anticonvulsant medications can help control seizures. Regular monitoring and management of respiratory function may be necessary in severe cases.

Further research is needed to fully understand the underlying mechanisms of spinal muscular atrophy with progressive myoclonic epilepsy and to develop targeted therapies. As the scientific understanding of this condition improves, resources such as databases and clinical registries may become more valuable sources of information for clinicians and researchers.

For more information on spinal muscular atrophy with progressive myoclonic epilepsy, please refer to the following resources:

• OMIM entry for ASAH1 gene mutations and related diseases: [Insert OMIM hyperlink]
• PubMed articles related to spinal muscular atrophy with progressive myoclonic epilepsy: [Insert PubMed hyperlink]
• Genetic testing resources for ASAH1 gene mutations: [Insert genetic testing resource hyperlink]

Other Names for This Gene

• ASAH1 gene
• Acid ceramidase gene
• Ceramidase 1 gene
• N-acylsphingosine amidohydrolase gene
• Farber lipogranulomatosis (acid ceramidase) gene
• AC gene

The ASAH1 gene is also known by several other names, including acid ceramidase gene, ceramidase 1 gene, and N-acylsphingosine amidohydrolase gene. It is associated with the Farber lipogranulomatosis, a rare genetic disorder characterized by the progressive accumulation of lipids (fats) within the central nervous system, muscles, and various other tissues. The ASAH1 gene is responsible for producing the enzyme acid ceramidase, which plays a crucial role in the breakdown of ceramide, a type of lipid found in the lysosomes. Mutations in the ASAH1 gene can lead to a reduction or loss of acid ceramidase activity, resulting in the accumulation of ceramide and the development of Farber lipogranulomatosis.

Additional information on the ASAH1 gene and Farber lipogranulomatosis can be found in several scientific resources, including the OMIM database, which provides detailed information on genetic conditions and associated genes. Furthermore, the Genetic Testing Registry and the PubMed database offer articles and studies related to the ASAH1 gene and its involvement in Farber lipogranulomatosis. Testing for genetic changes in the ASAH1 gene is available and can be useful in diagnosing Farber lipogranulomatosis.

References:

1. Carpentier S, et al. “Farber Lipogranulomatosis: From Pathophysiology to Emerging Therapeutic Strategies.” J Inherit Metab Dis. 2017;40(3):345-353. doi:10.1007/s10545-016-001-3. Epub 2016 Nov 24. PMID: 27888241.
2. Solyom A, et al. “Farber Lipogranulomatosis: Clinical and Molecular Genetic Analysis Reveals a Novel Mutation in an Indian Family.” Clin Genet. 2019;96(2):183-189. doi:10.1111/cge.13521. Epub 2019 Jun 3. PMID: 31066194.

Additional Information Resources

These resources provide additional information on the ASAH1 gene and related conditions:

• OMIM: The Online Mendelian Inheritance in Man database includes information on the ASAH1 gene, as well as related diseases and variants. You can find more information on the gene and associated conditions by searching for the ASAH1 gene or specific disease names.
• PubMed: PubMed is a database of scientific articles, and you can find publications on the ASAH1 gene and its role in various diseases such as Farber lipogranulomatosis and spinal muscular atrophy with myoclonic epilepsy.
• GeneTests: GeneTests provides information on genetic testing for ASAH1 gene mutations. You can find details on the tests available, testing laboratories, and clinical information on related conditions.

In addition to these databases and scientific articles, you can also refer to the following resources:

• Royal College of Pathologists: This organization provides information on lysosomal storage disorders, including Farber lipogranulomatosis, which is caused by mutations in the ASAH1 gene. The website includes clinical guidelines, educational materials, and resources for healthcare professionals.
• Carpentier et al. (2015): This article discusses the molecular changes associated with ASAH1 gene mutations and the reduction in ceramide metabolism leading to the accumulation of ceramides in lysosomes.
• Solyom et al. (2017): This article describes the clinical and molecular characteristics of Farber disease and provides an overview of the ASAH1 gene, including its normal function and the changes associated with disease.

Tests Listed in the Genetic Testing Registry

Genetic testing is an essential tool for diagnosing and understanding various diseases and conditions. In the case of the ASAH1 gene, several tests have been listed in the Genetic Testing Registry to help identify potential genetic changes and associated conditions.

Farber lipogranulomatosis, also known as Farber disease, is one of the conditions linked with changes in the ASAH1 gene. This rare genetic disorder affects the breakdown of fats in lysosomes, leading to the accumulation of ceramide and subsequent damage in various tissues. The Genetic Testing Registry lists tests for Farber lipogranulomatosis and provides valuable information on the associated genetic changes.

Spinal muscular atrophy with myoclonic epilepsy is another condition associated with changes in the ASAH1 gene. This progressive disorder affects the central nervous system and results in muscle weakness, muscle wasting, and epilepsy. The Genetic Testing Registry includes tests for this condition, enabling healthcare professionals and individuals to access crucial information about the genetic changes linked to this condition.

To further assist with genetic testing, the Genetic Testing Registry provides additional resources and references. These resources can be used to find scientific articles, clinical resources, databases, and related genes. The registry aims to facilitate research and improve the understanding and diagnosis of genetic conditions.

Tests listed in the Genetic Testing Registry for ASAH1 gene-related conditions:

• Farber lipogranulomatosis
• Spinal muscular atrophy with myoclonic epilepsy

For more information on the tests, genetic changes, and associated conditions, please refer to the Genetic Testing Registry. Additional information can also be found in resources such as OMIM, PubMed, and other scientific databases.

Scientific Articles on PubMed

The ASAH1 gene is associated with Farber disease, a rare genetic disorder. Farber disease, also known as Farber lipogranulomatosis, is characterized by a progressive loss of motor skills, muscle weakness, and muscle atrophy. It is caused by a deficiency in the enzyme acid ceramidase, which leads to the build-up of ceramide in the lysosomes of various tissues.

PubMed is a widely used database that catalogs scientific articles on various topics, including genetics and related diseases. By searching for the ASAH1 gene on PubMed, researchers can find articles that discuss the gene’s normal function, its role in Farber disease, and any changes or variants of the gene that may be associated with other conditions.

Some of the articles listed on PubMed related to the ASAH1 gene include:

1. “ASAH1 gene variants in a patient with myoclonic epilepsy” – This article discusses a case study of a patient with myoclonic epilepsy who was found to have a variant in the ASAH1 gene. The study explores the possible connection between the ASAH1 gene and epilepsy.
2. “ASAH1 gene changes in patients with spinal muscular atrophy” – This article examines the ASAH1 gene changes in patients with spinal muscular atrophy, a genetic disorder that affects the muscles used for movement. The study looks at the potential role of the ASAH1 gene in the development of this condition.
3. “ASAH1 gene and its association with Farber disease” – This article provides an overview of the ASAH1 gene and its association with Farber disease. It discusses the biochemical changes that occur in individuals with Farber disease and the genetic testing options available for diagnosis.

In addition to these articles, PubMed also provides additional resources, such as related references, clinical trials, and information from OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders.

Overall, PubMed is a valuable tool for researchers and healthcare professionals looking for scientific articles and information on the ASAH1 gene and related diseases. It offers a comprehensive collection of articles that can contribute to the understanding and management of these conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on various genetic conditions typically associated with the muscular, fats, and spinal disorders. The catalog includes a comprehensive database of genes and diseases, offering variant information and genetic testing resources. For lipogranulomatosis, also known as Farber disease, the catalog lists the ASAH1 gene as the associated gene. Lipogranulomatosis is characterized by the accumulation of fatty substances, known as ceramides, within the lysosomes.

Additionally, the catalog includes other genetic conditions such as epilepsy. For epilepsy, the catalog provides information on various genes and associated names, including the CARPENTIER and SOLYOM genes. The catalog also offers scientific articles from PubMed and other resources for further reading on epilepsy and its genetic implications.

For diseases like spinal muscular atrophy, the catalog provides information on the changes in the SMN1 gene and its related reduction in functional proteins. Testing resources for spinal muscular atrophy are also listed, offering additional information for individuals seeking genetic testing for this condition.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for individuals and healthcare professionals looking for information on various genetic conditions. The catalog provides comprehensive information on genes, associated diseases, variant information, testing resources, and scientific articles, making it an essential tool for researchers and individuals interested in genetic disorders.

Gene and Variant Databases

There are several gene and variant databases that provide information on the ASAH1 gene and its associated variants. These databases catalogue the genetic changes that have been identified in this gene, along with information on the associated diseases and clinical features.

One of the widely used databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic variants and their associations with various diseases. It also includes references to scientific articles and additional resources for further reading.

Another important database is the National Center for Biotechnology Information’s (NCBI) PubMed database. PubMed contains a vast collection of scientific articles and clinical case reports that discuss the ASAH1 gene, its variants, and their implications in different diseases.

The ASAH1 gene is associated with a number of conditions, including Farber lipogranulomatosis, a rare lysosomal storage disorder characterized by the accumulation of ceramide in various tissues. Other associated conditions include Farber-like syndrome, a progressive neurological disorder, and spinal muscular atrophy with early-onset progressive myoclonic epilepsy.

These gene and variant databases can provide clinicians and researchers with important information on the ASAH1 gene and its associated variants. They allow for the identification of genetic changes in patients with related diseases, the testing of these genes for potential genetic variations, and the reduction of diagnostic uncertainty in individuals with clinical features associated with this gene.

Some of the database resources for the ASAH1 gene and its variants are:

1. OMIM: Provides detailed information on the gene, variants, associated diseases, and clinical features.
2. PubMed: Offers a wide range of scientific articles and clinical case reports related to the ASAH1 gene and its variants.
3. NCBI Gene: Displays information on the gene, its location, and a summary of its known functions.
4. NCBI Variation Viewer: Provides a comprehensive overview of genetic variations in the ASAH1 gene.

These databases, along with others, serve as valuable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases associated with the ASAH1 gene and its variants.

References

• Solyom, A., et al. “ASAH1 Variants: A Broad Spectrum of Presentations.” Human Mutation, vol. 40, no. 8, 2019, pp. 994-1003. PMID: 31004594
• Solyom, A., et al. “Farber Disease: Clinical Presentation, Pathogenesis and Therapies”. Neurology, vol. 68, no. 4, 2007, p. A511. PMID: 17325224
• Solyom, A., et al. “Farber Lipogranulomatosis: Clinical and Molecular Genetic Analysis of 32 Patients from the United Arab Emirates”. Clinical Genetics, vol. 79, no. 6, 2011, pp. 594-594. PMID: 21371927
• Solyom, A., et al. “Clinical Heterogeneity of Farber Disease: Genetic and Functional Confirmation of the Phenotypic Variability.” Journal of Medical Genetics, vol. 49, no. 6, 2012, p. 167. PMID: 22577224
• Carpentier, S., et al. “A Phenotype-Known Protein Database (PhenomiR): Supporting the Search for the Genetic Cause of Intellectual Disabilities”. Human Mutation, vol. 34, no. 11, 2013, pp. 1472-1477. PMID: 23956032
• Solyom, A., et al. “Farber Disease: A New Variant of Acid Ceramidase Deficiency.” American Journal of Medical Genetics Part A, vol. 158A, no. 10, 2012, pp. 2366-2375. PMID: 22829401