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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Raynaud phenomenon | 0030880 | |
30%-79% of people have these symptoms | ||
Abnormality of the hepatic vasculature |
Abnormality of liver blood vessels
|
0006707 |
Brain |
0410263 | |
Compensated hypothyroidism | 0008223 | |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
Elevated gamma-glutamyltransferase level | 0030948 | |
Elevated serum creatinine |
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine
[ more ]
|
0003259 |
Glomerular sclerosis | 0000096 | |
Hypertension | 0000822 | |
Nephropathy | 0000112 | |
Nodular regenerative hyperplasia of liver | 0011954 | |
Normochromic |
0001895 | |
Normocytic anemia | 0001897 | |
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
5%-29% of people have these symptoms | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Apathy |
Lack of feeling, emotion, interest
|
0000741 |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ]
|
0002381 |
Disease of the heart muscle
|
0001638 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Depressivity |
Depression
|
0000716 |
Focal hyperintensity of cerebral white matter on |
0040328 | |
Focal hypointensity of cerebral white matter on MRI | 0040331 | |
Focal sensory |
0011163 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Generalized-onset seizure | 0002197 | |
0000501 | ||
Hemianopia | 0012377 | |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Irritability |
Irritable
|
0000737 |
Macular edema | 0040049 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ]
|
0002354 |
Micronodular cirrhosis | 0001413 | |
Migraine with aura | 0002077 | |
Migraine without aura | 0002083 | |
Pneumonia | 0002090 | |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
Psychosis | 0000709 | |
Retinal cotton wool spot | 0031606 | |
Retinal neovascularization | 0030666 | |
Sepsis |
Infection in blood stream
|
0100806 |
Telangiectasia | 0001009 | |
Weakness of facial musculature |
Decreased facial muscle strength
Decreased strength of facial muscles
Face weakness
Facial muscle weakness
Facial weakness
Reduced facial muscle strength
Weakness of face
[ more ]
|
0030319 |
1%-4% of people have these symptoms | ||
Avascular necrosis of the capital femoral epiphysis | 0005743 | |
Punctate vasculitis skin lesions | 0200030 | |
Skin rash | 0000988 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the periventricular white matter | 0002518 | |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Apraxia | 0002186 | |
0000006 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ]
|
0000708 |
0007009 | ||
Dementia, progressive
Progressive dementia
[ more ]
|
0000726 | |
Diminished ability to concentrate |
Poor concentration
|
0031987 |
Difficulty articulating speech
|
0001260 | |
Elevated |
High ESR
|
0003565 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Hematuria |
Blood in urine
|
0000790 |
Limb pain | 0009763 | |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
|
0002076 |
Progressive |
Worsens with time
|
0003676 |
Progressive forgetfulness | 0007017 | |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
|
0000529 |
Retinal exudate | 0001147 | |
Retinal hemorrhage |
Retinal bleeding
|
0000573 |
Seizure | 0001250 | |
Stroke | 0001297 | |
Vasculitis in the skin | 0200029 | |
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.