Fabry disease is a rare genetic disorder that is caused by mutations in the GLA gene. It is inherited in an X-linked manner, which means that the condition primarily affects males. However, females can also be affected, usually in a milder form. The disease is characterized by the buildup of a fatty substance called globotriaosylceramide (Gb3) in various organs and tissues of the body.

Classic Fabry disease typically presents with various symptoms, including skin rashes, eye involvement, kidney dysfunction, and cardiovascular issues such as heart failure. However, the clinical presentation may vary widely, and some individuals may have milder or atypical forms of the disease.

There is currently no cure for Fabry disease, but there are treatments available to manage its symptoms. Enzyme replacement therapy is the standard treatment for this condition. The therapy involves the infusion of a synthetic version of the missing enzyme, alpha-galactosidase A, which helps break down Gb3 in the body.

To support scientific research and advocacy for Fabry disease, several resources are available. The Fabry Disease Advocacy Center provides information and support for patients and their families. Additional information can also be found in scientific articles and publications, as well as through genetic testing and clinical trials.

For more information on Fabry disease, you can visit the websites of organizations such as the National Institutes of Health, OMIM (Online Mendelian Inheritance in Man), PubMed Central, and ClinicalTrials.gov. These resources provide access to a wealth of scientific references, studies, and other educational materials to help patients and healthcare professionals learn more about this rare disease.

Frequency

Fabry disease is a rare genetic condition that typically affects males. It is estimated to occur in approximately 1 in 40,000 to 1 in 117,000 male live births. However, it can also occur in females, although they tend to have milder symptoms compared to males.

Denied health insurance claims are a major problem for patients in America. The Kaiser Family Foundation found that ACA marketplace plans denied about 17% of in-network claims in 2019.

The disease is caused by mutations in the GLA gene, which leads to a deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3) in various cells and tissues of the body.

Fabry disease is associated with a wide range of symptoms and clinical manifestations, affecting multiple organ systems in the body. Common symptoms include skin rashes, kidney problems, heart abnormalities, and neurological issues. The severity of symptoms can vary widely among individuals with the disease.

Diagnosis of Fabry disease can be made through genetic testing, which identifies mutations in the GLA gene. Other diagnostic methods include enzyme activity testing and clinical evaluation.

There is currently no cure for Fabry disease, but there are treatments available to manage the symptoms and slow down disease progression. Enzyme replacement therapy (ERT) is the primary treatment option, where the missing or deficient enzyme is administered intravenously. ERT can help reduce pain, improve organ function, and enhance quality of life for patients with Fabry disease.

Research and clinical trials for new therapies, including gene therapy, are ongoing and provide hope for more effective treatments in the future. Patient advocacy groups and support organizations, such as the National Fabry Disease Foundation and the Fabry Support & Information Group, provide resources and information for individuals and families affected by Fabry disease.

For more information about Fabry disease and its frequency, you can refer to the following reputable resources:

  1. OMIM – Online Mendelian Inheritance in Man (omim.org)
  2. PUBMED – a database of scientific articles (pubmed.ncbi.nlm.nih.gov)
  3. ClinicalTrials.gov – clinical trials database (clinicaltrials.gov)
  4. Rare Diseases Patient Advocacy Center (rarediseases.org)
  5. Genetics Home Reference – a resource from the National Library of Medicine (ghr.nlm.nih.gov)

Causes

Fabry disease is a rare genetic disorder. It is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A (alpha-Gal A). This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3) in the body.

In individuals with Fabry disease, the GLA gene is mutated, leading to a deficiency or complete absence of alpha-Gal A enzyme activity. As a result, Gb3 builds up in various cells throughout the body, including the skin, kidneys, heart, and nervous system.

Fabry disease is inherited in an X-linked manner, which means that the gene mutation is located on the X chromosome. This condition primarily affects males, as they have one X and one Y chromosome, while females have two X chromosomes. However, females can also be affected if they inherit the mutated gene from both their mother and father.

The GLA gene mutations associated with Fabry disease are diverse, and there are more than 900 known mutations. Some mutations lead to the classic form of the disease, characterized by a severe enzyme deficiency, while others result in a milder form with residual enzyme activity. The severity and progression of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of Fabry disease can be challenging due to its rarity and variable presentation. Genetic testing can confirm the diagnosis by identifying mutations in the GLA gene. Additionally, testing for alpha-Gal A activity levels and analyzing levels of Gb3 in the blood can provide additional information.

Research is ongoing to better understand the causes and mechanisms behind Fabry disease. Various scientific studies and clinical trials are investigating potential new therapies and approaches for managing the condition.

If you or someone you know has been diagnosed with Fabry disease, there are resources available to support patients and their families. Advocacy organizations, such as the National Fabry Disease Foundation, provide information, patient support, and opportunities to participate in clinical trials. Additional information can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov.

References

  1. Desnick RJ, Brady R, Barranger J, et al. Fabry Disease, An Inborn Error of Glycolipid Metabolism. N Engl J Med. 2001; 345(25): 1986-1997.
  2. Germain DP. Fabry Disease. Orphanet J Rare Dis. 2010;5:30.
  3. Fabry Disease. National Organization for Rare Disorders. Available at: https://rarediseases.org/rarediseases/fabry-disease/. Accessed August 3, 2021.
  4. Catalog of Genes and Diseases. NCBI. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1152/. Accessed August 3, 2021.

Learn more about the gene associated with Fabry disease

Fabry disease is a rare genetic disorder that affects the normal function of cell metabolism. It is caused by mutations in the GLA gene, which provides instructions for making an enzyme called alpha-galactosidase A. This enzyme is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3).

See also  PKP2 gene

In individuals with Fabry disease, a failure of alpha-galactosidase A leads to the accumulation of Gb3 in the body’s cells and tissues, which can cause a wide range of symptoms. The classic form of Fabry disease primarily affects the heart, kidneys, and central nervous system, while other forms of the disease may manifest with additional symptoms such as skin and eye abnormalities.

The GLA gene is located on the X chromosome, and Fabry disease follows an X-linked inheritance pattern. This means that the condition primarily affects males, while females can be carriers of the gene mutation.

Learning more about the GLA gene and its association with Fabry disease can provide valuable information for research, diagnosis, and potential therapies. Scientific studies have been conducted to investigate the genetic basis of this condition, with many resources available for further reading.

Here are some additional references and resources to learn more about the gene associated with Fabry disease:

By exploring these resources and reading the scientific literature, you can gain a deeper understanding of the genetic causes and clinical manifestations of Fabry disease. This knowledge can contribute to ongoing research efforts, improve diagnosis and testing methods, and ultimately lead to better therapies and support for individuals with this rare condition.

Inheritance

Fabry disease is a rare genetic condition that is associated with a deficiency or malfunction in the alpha-galactosidase gene. This gene is responsible for producing an enzyme called alpha-galactosidase A, which is needed to break down a fatty substance called globotriaosylceramide (Gb3). When the alpha-galactosidase gene is faulty or missing, the accumulation of Gb3 in cells throughout the body can lead to the signs and symptoms of Fabry disease.

There are two classic forms of Fabry disease: the late-onset type and the severe early-onset type. The inheritance pattern of Fabry disease is X-linked recessive, meaning that it is more commonly passed down from mothers to their sons. However, in rare cases, it can also be passed down from fathers to their daughters. Because the gene responsible for Fabry disease is located on the X chromosome, males who inherit a faulty gene on their single X chromosome are more likely to develop the severe early-onset form of the disease.

The frequency of Fabry disease varies among different populations. In the general population, Fabry disease is estimated to occur in approximately 1 in 40,000 to 117,000 males. However, in certain populations with a higher frequency of the faulty gene, the prevalence can be as high as 1 in 3,000 to 4,000 males.

For more information about Fabry disease and its inheritance, you can visit the following resources:

  • PubMed: A scientific research database with articles about Fabry disease.
  • ClinicalTrials.gov: A central repository of clinical studies on Fabry disease.
  • OMIM: A catalog of human genes and genetic disorders, including Fabry disease.
  • Fabry.org: A patient advocacy center with additional information and support for individuals with Fabry disease.

Fabry disease can affect various organs and systems in the body, including the heart, kidneys, central nervous system, and skin. If left untreated, the accumulation of Gb3 can lead to serious complications such as kidney failure, heart disease, and neurological problems. However, with appropriate therapy and management, the symptoms and progression of Fabry disease can be controlled.

Other Names for This Condition

  • Anderson-Fabry disease
  • Angiokeratoma corporis diffusum
  • Anderson-Fabry syndrome
  • Ceramide trihexosidase deficiency
  • Gaucher-like disease
  • GLA deficiency
  • Hereditary dystopic lipidosis
  • Hereditary dystopic lipidosis with angiokeratoma corporis diffusum
  • Peripheral lipid storage disease

Fabry disease is a rare genetic disorder. It is also known as Anderson-Fabry disease, angiokeratoma corporis diffusum, and GLA deficiency. This condition is caused by a deficiency of an enzyme called alpha-galactosidase A (alpha-Gal A), which is responsible for breaking down a fatty substance called globotriaosylceramide (Gb3). The accumulation of Gb3 in various organs and systems of the body leads to the symptoms and complications associated with Fabry disease.

Fabry disease primarily affects the skin, kidneys, and cardiovascular system. It can also affect the eyes, nervous system, and other organs. The classic form of Fabry disease is the most severe and typically affects males, although females can also be affected. There is also a later-onset form of the disease that typically presents with milder symptoms and is more common in females.

Diagnosis of Fabry disease involves genetic testing to confirm the presence of mutations in the GLA gene, which is responsible for producing the alpha-Gal A enzyme. Other testing, such as enzyme activity testing and skin biopsies, may also be performed to support the diagnosis. Treatment options for Fabry disease include enzyme replacement therapy, which can help reduce symptoms and slow disease progression.

For more information about Fabry disease, its causes, and management options, you can refer to resources such as the National Institute of Health’s Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, and scientific articles available on PubMed. These resources provide additional information on the genetic inheritance pattern, associated complications, and ongoing research studies related to Fabry disease.

There are also advocacy and support organizations dedicated to raising awareness about Fabry disease and providing support to patients and their families. These organizations offer resources, educational materials, and opportunities for connecting with other individuals affected by Fabry disease. Some examples of these organizations include the National Fabry Disease Foundation and Fabry Support & Information Group.

By learning more about Fabry disease and its various aspects, individuals can better understand the condition, its implications, and available support and treatment options.

Additional Information Resources

For more information on Fabry disease, the following resources may be helpful:

  • Clinical Trials – Learn about ongoing research studies and clinical trials related to Fabry disease at clinicaltrialsgov.
  • Genetic Testing – Find information about genetic testing for Fabry disease and other rare disorders at omim.
  • Patient Support and Advocacy – Get support and advocacy services for Fabry disease from organizations such as Fabry Disease Advocacy and Center for Fabry Disease and Related Disorders.
  • Scientific Articles – Access articles and research studies on Fabry disease from PubMed, a central repository for scientific literature.
  • Genetic Resources – Find information about the genes associated with Fabry disease and inheritance patterns at GeneReviews and Genetics Home Reference.
  • Heart Failure – Learn about the causes, symptoms, and treatment of heart failure in patients with Fabry disease at Heart Failure Online.
See also  DDX11 gene

These resources provide additional information on the clinical characteristics, frequency, and genetic aspects of Fabry disease. They also offer resources for patient education and support.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Fabry disease. By identifying specific genetic mutations, healthcare professionals can confirm a patient’s diagnosis and assess their risk of developing related health issues. Below are some key resources where you can find more information and support regarding genetic testing for Fabry disease:

  • PubMed: PubMed is a valuable database of scientific articles on various topics, including genetic testing for Fabry disease. You can search for studies, case reports, and clinical trials related to genetic testing in Fabry patients.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. This resource provides detailed information on the genetics and inheritance patterns of Fabry disease.
  • Genetic Testing Centers: Various genetic testing centers offer specialized services for Fabry disease diagnosis. They can provide information on the different genetic testing methods available and guide patients through the testing process.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on clinical trials investigating new therapies and treatments for Fabry disease. These trials often include genetic testing as part of the research protocol.
  • Support Groups and Advocacy Organizations: Support groups and advocacy organizations for Fabry disease can offer additional resources and support related to genetic testing. They may have patient stories, educational materials, and connections to genetic counselors.

Genetic testing for Fabry disease typically focuses on identifying mutations in the GLA gene, which is responsible for producing a crucial enzyme called alpha-galactosidase A. Deficiencies in this enzyme lead to the accumulation of certain fatty substances in different body systems, including the heart, kidneys, and skin.

It is important to note that Fabry disease is a rare condition, and genetic testing is not commonly done as a routine test. However, if you or a family member has symptoms or a history suggestive of Fabry disease, genetic testing can help confirm the diagnosis and guide further management.

Genetic testing for Fabry disease is highly accurate and can provide essential information for patients and their healthcare providers. If you are interested in learning more about genetic testing or have concerns about Fabry disease, consult with a genetics specialist or a healthcare professional experienced in managing genetic conditions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an informational resource provided by the National Center for Advancing Translational Sciences (NCATS) and the Office of Rare Diseases Research (ORDR). GARD is a unique resource that provides comprehensive information about genetic and rare diseases.

GARD provides information about the classic Fabry disease, which is a rare genetic disorder caused by mutations in the GLA gene. It is inherited in an X-linked manner, which means that the gene responsible for the condition is located on the X chromosome. The frequency of this condition in the general population is low, with an estimated prevalence of 1 in 40,000 to 60,000 individuals.

Fabry disease affects various organs and systems in the body, including the skin, kidneys, heart, and nervous system. Individuals with this disease typically experience symptoms such as high frequency of skin lesions, kidney problems, heart abnormalities, and nervous system disorders.

In addition to providing information about Fabry disease, GARD also offers support and advocacy resources for patients and their families. The center provides references to scientific articles, genetic testing resources, and information about research studies and clinical trials related to Fabry disease. GARD also offers resources for healthcare professionals and researchers who are interested in learning more about this condition.

For more information about Fabry disease, you can visit the GARD website or browse through the resources provided by the National Human Genome Research Institute (NHGRI), the Online Mendelian Inheritance in Man (OMIM) catalog, and PubMed. These resources provide additional information about the genetic basis of this condition, associated genes, and potential therapies or treatment options.

Patient Support and Advocacy Resources

A diagnosis of Fabry disease can be overwhelming for both patients and their families. However, there are various advocacy resources available to provide support and information to help navigate this rare genetic disorder. These resources offer a range of services, including patient support groups, educational materials, and access to clinical trials and research studies. Here are some key patient support and advocacy resources:

  • National Fabry Disease Foundation: This nonprofit organization aims to increase awareness about Fabry disease and provide support to patients and their families. Their website offers a wealth of information about the condition, including articles, news updates, and resources for finding a specialist or clinical trial.
  • Genetic and Rare Diseases Information Center: This centralized resource provides extensive information about Fabry disease and other rare genetic disorders. It offers a comprehensive view into the causes, symptoms, and inheritance patterns of various diseases. Patients can also find information on ongoing research studies, clinical trials, and genetic testing options.
  • Fabry Disease Gene Therapy Research: This research center focuses on developing gene therapy treatments for Fabry disease. Their website provides updates on the latest scientific advancements, clinical trials, and treatment options. Patients can learn about ongoing studies and potentially participate in research if eligible.
  • Patient Organizations: Several patient organizations exist to support individuals living with Fabry disease. These organizations often host support groups, provide educational materials, and connect patients with healthcare professionals. Some notable organizations include the National Fabry Disease Initiative, Fabry Support and Information Group, and the Fabry International Network.

In addition to these resources, patients and their families can also consult medical professionals, such as genetic counselors, for further guidance and information. It’s important to stay up-to-date with the latest research and advancements in Fabry disease, as new therapies and treatment options may become available in the future.

References:

  1. Bennett, R. L., & French, K. S. (2018). Fabry Disease. In GeneReviews®. University of Washington, Seattle.
  2. Fabry Disease. (n.d.). In GeneCards®. Weizmann Institute of Science.
  3. Fabry. (n.d.). In OMIM®. Johns Hopkins University.
  4. Fabry Disease. (n.d.). In PubMed®. National Center for Biotechnology Information.
  5. Fabry Disease. (n.d.). In ClinicalTrials.gov. U.S. National Library of Medicine.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for researchers, clinicians, and patients looking for information on testing and support for rare diseases and conditions. It provides a central catalog of clinical studies that can help to advance our understanding of various diseases and conditions, including Fabry disease.

Fabry disease is a rare genetic disorder caused by mutations in the GLA gene. It is inherited in an X-linked manner and primarily affects the skin and the cardiovascular system. The disease is associated with a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of a lipid called globotriaosylceramide (Gb3) in various cells and organs.

See also  How do cells divide

ClinicalTrials.gov provides a wealth of information on research studies related to Fabry disease. Researchers and clinicians can find information on ongoing studies that aim to understand the causes and mechanisms of the disease, develop new therapies, and improve patient outcomes.

One example of a research study listed on ClinicalTrials.gov is a clinical trial investigating the efficacy of a novel gene therapy for Fabry disease. This trial aims to evaluate the safety and effectiveness of introducing a functional copy of the GLA gene into patients’ cells to restore alpha-galactosidase A activity. This type of therapy has the potential to provide a long-term, high-impact treatment option for patients with Fabry disease.

In addition to clinical trials, ClinicalTrials.gov also provides resources for further information on Fabry disease. These resources include links to relevant articles in PubMed, an online repository of scientific literature, as well as links to the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genetic disorders and genes associated with them.

The information available on ClinicalTrials.gov can support advocacy efforts for Fabry disease by providing up-to-date information on ongoing research and potential treatment options. It can also help patients and their families to learn more about the disease, its associated symptoms and complications, and available resources for support and management.

In conclusion, ClinicalTrials.gov is a valuable resource for researchers, clinicians, and patients interested in Fabry disease. It provides information on ongoing research studies, genetic causes of the disease, potential therapies, and additional resources for more information and support. By utilizing the information available on ClinicalTrials.gov, we can further our understanding of Fabry disease and improve patient care and outcomes.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information about the frequency, inheritance patterns, associated symptoms, and molecular mechanisms of various diseases.

The catalog covers a wide range of diseases affecting different systems in the body. For example, it includes diseases related to the heart, skin, central nervous system, and other organs or systems.

One of the diseases found in the catalog is Fabry disease. This rare genetic disorder is caused by mutations in the GLA gene, which leads to a deficiency of the enzyme alpha-galactosidase A. This enzyme is responsible for breaking down a type of fat called globotriaosylceramide (Gb3). Without enough functional alpha-galactosidase A, Gb3 builds up in various organs and tissues, causing a wide range of symptoms.

Fabry disease is associated with both classic and non-classic forms. The classic form typically presents in childhood or adolescence and affects multiple organs, including the skin, kidneys, heart, and nervous system. Non-classic forms may have later onset and milder symptoms.

Testing for Fabry disease involves genetic testing to identify mutations in the GLA gene. This can confirm a diagnosis and help guide treatment decisions.

There are several resources available for patients and healthcare professionals to learn more about Fabry disease and other genetic disorders. OMIM provides additional references and scientific articles for further research. Other sources, such as PubMed, clinicaltrialsgov, and genetic advocacy and support organizations, offer information on ongoing studies, treatment options, and patient support.

With advances in genetic research, there is ongoing interest in developing targeted therapies for Fabry disease and other rare genetic disorders. These therapies aim to address the underlying genetic cause of the condition and improve symptoms and outcomes for patients.

In summary, OMIM’s catalog of genes and diseases provides a central repository of information on rare genetic disorders, including Fabry disease. It offers resources for patients, healthcare professionals, and researchers to learn more about the genetic basis, clinical manifestations, and management of these conditions.

Scientific Articles on PubMed

The Fabry disease is a rare genetic condition that causes a range of symptoms and complications. There are various scientific articles available on PubMed that provide information about this condition and related research studies.

PubMed is a database that contains a vast collection of scientific articles from different medical journals. It is a valuable resource for healthcare professionals, researchers, and patients looking to learn more about a specific disease or research studies.

Some of the key information that can be found on PubMed includes clinical trials, genetic testing, studies on the causes and inheritance of Fabry disease, associated diseases and disorders, and information about therapies and treatment options.

  • ClinicalTrials.gov: This is a database that provides information about ongoing clinical trials related to Fabry disease. It can be a valuable resource for patients and researchers looking for available clinical trials and new treatment options.
  • Catalog of Genes and Genetic Disorders (OMIM): OMIM is a comprehensive catalog that provides information about genes and genetic disorders. It includes detailed information about the gene associated with Fabry disease and other related genes.
  • Scientific Articles: PubMed contains numerous scientific articles on Fabry disease. These articles cover a wide range of topics, including the clinical manifestations of the disease, cardiac and renal involvement, skin manifestations, and more.
  • Support and Advocacy: PubMed also provides information about support groups and advocacy organizations dedicated to Fabry disease. These resources can be helpful for patients and their families in finding additional support and information about the condition.

Overall, PubMed is an invaluable resource for accessing scientific articles and research studies on Fabry disease. It provides reliable and up-to-date information that can support patients, healthcare professionals, and researchers in better understanding this rare condition.

References

  • Fabry disease:
    • “Fabry disease.” Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/condition/fabry-disease.
    • Germain DP. Fabry disease. Orphanet J Rare Dis. 2010 Feb 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 20178617; PMCID: PMC2831908.
    • Zarate YA, Hopkin RJ. Fabry’s disease. Lancet. 2008 Apr 5;371(9616):628-38. doi: 10.1016/S0140-6736(08)60240-9. PMID: 18387671.
  • ClinicalTrials.gov:
  • Genetic Resources:
  • Scientific Articles:
    • Sacconi S, Bagni C, Pane M. et al. “Heart involvement in female Fabry patients: A time for concern?” Clin Genet. 2008 Dec;74(6):510-5. doi: 10.1111/j.1399-0004.2008.01128.x. Epub 2008 Nov 3. PMID: 18992061.
    • Laney DA, Fernhoff PM. Diagnosis of Fabry Disease via Analysis of Family History. J Genet Couns. 2008 Feb;17(1):79-83. doi: 10.1007/s10897-007-9138-5. Epub 2007 Dec 19. PMID: 17955212.
  • Additional Resources:
  • Gene Testing: