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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Micronodular cirrhosis | 0001413 | |
| 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 | 0031987 | |
|
Difficulty articulating speech
|
0001260 | |
| Elevated |
High ESR
|
0003565 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Hematuria |
Blood in urine
|
0000790 |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
| Limb pain | 0009763 | |
| Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
| Macular edema | 0040049 | |
| 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 |
|
High urine protein levels
Protein in urine
[ more ]
|
0000093 | |
| Punctate vasculitis skin lesions | 0200030 | |
| Raynaud phenomenon | 0030880 | |
| Retinal exudate | 0001147 | |
| Retinal hemorrhage |
Retinal bleeding
|
0000573 |
|
Seizure
|
0001250 | |
| Stroke | 0001297 | |
| Telangiectasia | 0001009 | |
| Vasculitis in the skin | 0200029 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
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.
National Family Health History Day
November 20, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018
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