Orpha Number: 79086
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||
|100% of people have these symptoms|
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
Autoimmune disorder[ more ]
|Calf muscle pseudohypertrophy||0003707|
Disease of the heart muscle
Fatty infiltration of liver
Fatty liver[ more ]
Insulin resistant diabetes
Insulin-resistant diabetes[ more ]
|Progeroid facial appearance||
Premature aged appearance
|5%-29% of people have these symptoms|
|Abnormality of complement system||0005339|
Darkened and thickened skin
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation[ more ]
Acute pancreatic inflammation
Scar tissue replaces healthy tissue in the liver
Excessive hairiness over body
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides[ more ]
Muscle tissue disease
Inflammation of fat tissue
High urine protein levels
Protein in urine[ more ]
|1%-4% of people have these symptoms|
Cancer of lymphatic system
|Unicameral bone cyst||0012064|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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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