This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Yellowing of the skin[ more ]
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Chronic obstructive pulmonary disease||0006510|
|Elevated hepatic transaminases||
High liver enzymes
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have been recently diagnosed with the alpha-1 antitrypsin deficiency gene along with my brother. He found out he had it and told the family we should get checked because it's inherited. I'm level 25 and he is level 30. My question is what is the treatment process for the disease? My brother and I are almost 60 but our kids are still young. What would the process be for them? See answer
My birth mother's maternal half-sister died from this disease. What are the chances of me or one of my six children having this genetic disorder? See answer
I think I may have alpha-1-antitrypsin deficiency. How is it diagnosed? Who should I talk to? See answer
What are the chances of having alpha 1-antitrypsin deficiency and panniculitis? See answer