Fabry disease

Genetic and Rare Diseases Information Center (GARD)

Angiokeratoma, diffuse
Anderson-Fabry disease
Hereditary dystopic lipidosis
Alpha-galactosidase A deficiency
GLA deficiency
Angiokeratoma corporis diffusum
Ceramide trihexosidase deficiency

Home > Genetic & Rare Diseases Information Center (GARD) > Fabry disease

Fabry disease
Please note that the links contained on this search results page may take you to sites outside of the NIH. (See Disclaimer under Site Policies for details.)

Fabry disease is an inherited disorder that is caused by the buildup of a specific type of fat called globotriasylceramide. The buildup occurs because individuals with Fabry disease have a mutation in the GLA gene. The GLA gene provides instructions for the making of an enzyme called alpha-galactosidase A. The mutation in the GLA gene changes the structure and function of alpha-galactosidase A, preventing the breakdown of globotriasylceramide. The buildup leads to the damage of the cells lining blood vessels and cells in the kidneys, heart, and nervous system. The damage caused by the buildup leads to the various symptoms of Fabry disease. ^[1]

References

Fabry disease. Genetics Home Reference (GHR) Web site. March 2007 Available at: http://ghr.nlm.nih.gov/condition=fabrydisease. Accessed April 14, 2009.

Questions & Answers (Found 1 Question)

A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.

Can women get Fabry disease? (Click here for answer)

Show All Resources

For more information about Fabry disease click on the boxes below:

More Detailed Information	NLM Gateway	Medical Products	Services	Support Groups	Clinical Trials & Research

General \| Management Guidelines \| Selected Full-Text Journal Articles
More Detailed Information (Found 13 resources) Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates General eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic. Genetics Home Reference (GHR) contains a condition summary on Fabry disease. Click on the link to go to GHR and review this summary. MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic. The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. The National Kidney Foundation (NKF) has an information page on Fabry disease. Click on the NKF link to access the information. The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic. The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fabry disease. Click on the link to go to OMIM and review these resources. Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic. PubMed is a searchable database of medical literature and lists journal articles that discuss Fabry disease. Click on the link to view a sample search on this topic. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic. Selected Full-Text Journal Articles Ries, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118:924-932. Ries, et al. Pediatric Fabry Disease. Pediatrics 2005;115:e344-e355.

General | Management Guidelines | Selected Full-Text Journal Articles

More Detailed Information (Found 13 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

General
- eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
- The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
- Genetics Home Reference (GHR) contains a condition summary on Fabry disease. Click on the link to go to GHR and review this summary.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Kidney Foundation (NKF) has an information page on Fabry disease. Click on the NKF link to access the information.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fabry disease. Click on the link to go to OMIM and review these resources.
- Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fabry disease. Click on the link to view a sample search on this topic.
Management Guidelines
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
Selected Full-Text Journal Articles
- Ries, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118:924-932.
- Ries, et al. Pediatric Fabry Disease. Pediatrics 2005;115:e344-e355.


NLM Gateway (Found 1 resource) A tool to search across multiple resources offered on the National Library of Medicine's Website NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

- NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.

Medical Products (Found 1 resource)

U.S. Food and Drug Administration

The Office of Orphan Products Development (OOPD)

The medications listed in the table below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search all FDA approved drugs, visit Drugs@FDA You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name	Trade Name (Manufacturer Name)	Indication	Resources
Ceramide trihexosidase/alpha-galactosidase A	Fabrazyme® (Genzyme Corporation)	For use in patients with Fabry disease to reduce globotriaosylceramide (GL-3) deposition in capillary endothelium of the kidney and certain other cell types	Daily Med


Services (Found 1 resource) Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories Testing GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

Testing
- GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Umbrella Organizations \| Disease-Specific Organizations \| Live Chat/E-mail Lists \| Parent Matching Organizations
Support Groups (Found 8 resources) Groups providing a wide range of services, supportive resources, and information Umbrella Organizations Genetic Alliance 4301 Connecticut Avenue NW Suite 404 Washington, DC 20008-2369 Telephone: 202-966-5557 Fax: 202-966-8553 E-mail: info@geneticalliance.org Web site: http://www.geneticalliance.org National Organization for Rare Disorders (NORD) 55 Kenosia Avenue PO Box 1968 Danbury, CT 06813-1968 Toll-free: 1-800-999-6673 (voicemail only) Telephone: 203-744-0100 TTY: 203-797-9590 Fax: 203-798-2291 E-mail: orphan@rarediseases.org Web site: http://www.rarediseases.org/ Disease-Specific Organizations National Kidney Foundation, Inc. 30 East 33rd Street New York, NY 10016 Telephone: 1-800-622-9010 Online e-mail form: http://www.kidney.org/about/contact.cfm Web site: http://www.kidney.org Fabry Support & Information Group 108 NE 2nd Street, Ste. C P.O. Box 510 Concordia, MO 64020-0510 Telephone: 660-463-1355 Fax: 660-463-1356 E-mail: info@fabry.org Web site: http://www.fabry.org National Tay-Sachs and Allied Diseases Association 2001 Beacon Street Suite 204 Brighton, MA 02135 Telephone: 617-277-4463 800-90-NTSAD (906-8723) Fax: 617-277-0134 E-mail: info@ntsad.org Web site: http://www.ntsad.org Live Chat/E-mail Lists The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more. RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more. Parent Matching Organizations Madisons Foundation P.O. Box 241956 Los Angeles, CA 90024 Telephone: 310-264-0826 Fax: 310-264-4766 E-mail: getinfo@madisonsfoundation.org Web site: http://www.madisonsfoundation.org/

Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations

Support Groups (Found 8 resources)
Groups providing a wide range of services, supportive resources, and information

Umbrella Organizations
- Genetic Alliance
  4301 Connecticut Avenue NW
  Suite 404
  Washington, DC 20008-2369
  Telephone: 202-966-5557
  Fax: 202-966-8553
  E-mail: info@geneticalliance.org
  Web site: http://www.geneticalliance.org
- National Organization for Rare Disorders (NORD)
  55 Kenosia Avenue
  PO Box 1968
  Danbury, CT 06813-1968
  Toll-free: 1-800-999-6673 (voicemail only)
  Telephone: 203-744-0100
  TTY: 203-797-9590
  Fax: 203-798-2291
  E-mail: orphan@rarediseases.org
  Web site: http://www.rarediseases.org/
Disease-Specific Organizations
- National Kidney Foundation, Inc.
  30 East 33rd Street
  New York, NY 10016
  Telephone: 1-800-622-9010
  Online e-mail form: http://www.kidney.org/about/contact.cfm
  Web site: http://www.kidney.org
- Fabry Support & Information Group
  108 NE 2nd Street, Ste. C
  P.O. Box 510
  Concordia, MO 64020-0510
  Telephone: 660-463-1355
  Fax: 660-463-1356
  E-mail: info@fabry.org
  Web site: http://www.fabry.org
- National Tay-Sachs and Allied Diseases Association
  2001 Beacon Street
  Suite 204
  Brighton, MA 02135
  Telephone: 617-277-4463 800-90-NTSAD (906-8723)
  Fax: 617-277-0134
  E-mail: info@ntsad.org
  Web site: http://www.ntsad.org
Live Chat/E-mail Lists
- The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
- RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
Parent Matching Organizations
- Madisons Foundation
  P.O. Box 241956
  Los Angeles, CA 90024
  Telephone: 310-264-0826
  Fax: 310-264-4766
  E-mail: getinfo@madisonsfoundation.org
  Web site: http://www.madisonsfoundation.org/


Clinical Trials & Research (Found 3 resources) Resources where you may find research studies and clinical trials ClinicalTrials.gov lists trials that are studying or have studied Fabry disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies. The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query". Link: http://projectreporter.nih.gov/reporter.cfm Patient Registry A registry for Fabry disease has been established in order to better understand the natural history of Fabry disease, including disease variations within and between affected families; provide a basis for developing guidelines for disease management; evaluate how treatment affects the course of disease; and provide high-quality data and analysis that will help to continuously develop better treatments. To learn more visit the following link. Link: http://clinicaltrials.gov/ct2/show/NCT00196742?term=fabry&rank=2

Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials

- ClinicalTrials.gov lists trials that are studying or have studied Fabry disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
  Link: http://projectreporter.nih.gov/reporter.cfm
Patient Registry
- A registry for Fabry disease has been established in order to better understand the natural history of Fabry disease, including disease variations within and between affected families; provide a basis for developing guidelines for disease management; evaluate how treatment affects the course of disease; and provide high-quality data and analysis that will help to continuously develop better treatments. To learn more visit the following link.
  Link: http://clinicaltrials.gov/ct2/show/NCT00196742?term=fabry&rank=2

Note: If you need help accessing information in different file formats such as PDF, MP3, see Viewers, Players, and Plug-ins.