The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of temperature regulation||90%|
|Abnormal pattern of respiration||50%|
|Abnormality of the aortic valve||50%|
|Coronary artery disease||50%|
|Dilatation of the ascending aorta||50%|
|Inflammatory abnormality of the eye||50%|
|Abnormality of the endocardium||7.5%|
|Neurological speech impairment||7.5%|
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.
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I have been diagnosed with Takayasu arteritis. It has changed my life in many ways and I am yet to accept this condition. It has been very difficult for me to deal with this diagnosis and I'm not sure who to talk to or who to get information from. See answer