Alpha 1-antitrypsin deficiency
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.)
These Web pages are updated as the Genetic and Rare Diseases Information Center receives questions and as new information becomes available. If you don’t see many information resources on this page, it may be because the Information Center hasn’t yet received a question about this condition.
If you have a question, please contact us — we will answer your question and update this page with new resources and information.
For more information about Alpha 1-antitrypsin deficiency click on the boxes below:
Click arrows to expand or collapse a Resource Section.
Show All Resources
Hide All Resources
- More Detailed Information (Found: 9 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
-
Genetics Home Reference (GHR) contains a condition summary on Alpha 1-antitrypsin deficiency. Click on the link to go to GHR and review this summary.
-
MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
-
The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
-
The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
-
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 Alpha 1-antitrypsin deficiency. 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 Alpha 1-antitrypsin deficiency. 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.
- Support Groups (Found: 4 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Live Chat
-
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.
- Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
-
ClinicalTrials.gov lists trials that are studying or have studied Alpha 1-antitrypsin deficiency. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Ask-an-Expert
-
Alpha 1 Association Genetic Counseling Center. The Call Center offers information and resources to individuals, family members and medical professionals on the genetics of Alpha-1 and provides information on testing options. Contact 800-785-3177 to ask a genetic counselor questions about alpha 1 antitrypsin deficiency.
- 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.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
-
The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.