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|
Clouding of the lens of the eye
Cloudy lens[ more ]
|Chondritis of pinna||0200047|
|Large vessel vasculitis||0005310|
|30%-79% of people have these symptoms|
|Abnormal aortic valve morphology||0001646|
Partial or complete collapse of part or entire lung
|Limitation of joint mobility||
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion[ more ]
Swelling or irritation of membrane around heart
|5%-29% of people have these symptoms|
|Abnormal endocardium morphology||0004306|
|Abnormal pattern of respiration||
Abnormal respiratory patterns
Unusual breathing patterns[ more ]
|Anteriorly placed anus||0001545|
|Cranial nerve paralysis||0006824|
Wider than typical opening or gap
Inflammation of the thin layer on top of the white part of eye
Death of body tissue due to lack of blood flow or infection
Blood in urine
Softening of voice box tissue
Flat, discolored area of skin
Inflammation of heart muscle
High urine protein levels
Protein in urine[ more ]
Red or purple spots on the skin
|Recurrent aphthous stomatitis||
Recurrent canker sores
Renal failure in adulthood[ more ]
|Sensorineural hearing impairment||0000407|
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis, Behçet disease, and leprosy (see these terms).
Visit the Orphanet disease page for more information.
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.
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