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|
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
|Decreased level of plasminogen||0040228|
|30%-79% of people have these symptoms|
Red and swollen gums[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the fallopian tube||0011027|
|Abnormality of the middle ear||0000370|
|Abnormality of the ovary||
Abnormality of the ovaries
|Abnormality of the respiratory system||0002086|
|Abnormality of the skin||0000951|
Uterine cervix inflammation
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Abnormality of the ear||0000598|
|Abnormality of the larynx||0001600|
Underdeveloped cerebellum[ more ]
Onset in first year of life
Onset in infancy[ more ]
Increased size of skull
Large head circumference[ more ]
|Recurrent upper respiratory tract infections||0002788|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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
My son has type 1 plasminogen deficiency and currently has been diagnosed with ligneous conjunctivitis. Please provide any and all information that you have with respect to this disease. See answer