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|
Pain in stomach
Stomach pain[ more ]
|Abnormality of the menstrual cycle||0000140|
Painful or difficult urination
Blood in urine
High urine protein levels
Protein in urine[ more ]
Skin itching[ more ]
Open skin sore
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|Urinary bladder inflammation||0100577|
Difficulty with flow
|30%-79% of people have these symptoms|
Decreased immune function
|5%-29% of people have these symptoms|
|Abnormality of the neck||0000464|
|Abnormality of the tongue||
Tongue abnormality[ more ]
|Neoplasm of the rectum||
Inflammation of testicles
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
Depending on the organ involved, differential diagnoses include primary or metastatic malignancies, inflammatory diseases (sarcoidosis, Crohn's disease; see these terms), infections (tuberculosis, Whipple disease; see these terms), and cutaneous fungal infections.
Visit the Orphanet disease page for more information.
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.
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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