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 | ||
| Abnormal eyelid morphology |
Abnormality of the eyelid
Abnormality of the eyelids
[ more ]
|
0000492 |
| Autoimmunity |
Autoimmune disease
Autoimmune disorder
[ more ]
|
0002960 |
| EMG abnormality | 0003457 | |
| Erythema | 0010783 | |
| Inflammatory myopathy | 0009071 | |
| Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
| Periorbital edema | 0100539 | |
| Proximal muscle weakness |
Weakness in muscles of upper arms and upper legs
|
0003701 |
| 30%-79% of people have these symptoms | ||
| Abnormal hair quantity | 0011362 | |
| Abnormality of the nail | 0001597 | |
| Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
| Arthralgia |
Joint pain
|
0002829 |
|
Joint inflammation
|
0001369 | |
| Chondrocalcinosis |
Calcium deposits in joints
|
0000934 |
| Diffuse reticular or finely nodular infiltrations | 0002207 | |
| Dry skin | 0000958 | |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Interstitial pulmonary abnormality |
Abnormality in area between air sacs in lung
|
0006530 |
| Muscular |
Low or weak muscle tone
|
0001252 |
| Papule | 0200034 | |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| Pulmonary fibrosis | 0002206 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Skin ulcer |
Open skin sore
|
0200042 |
| Weight loss | 0001824 | |
| 5%-29% of people have these symptoms | ||
| Abnormal eosinophil morphology | 0001879 | |
| Aplasia/Hypoplasia of the skin |
Absent/small skin
Absent/underdeveloped skin
[ more ]
|
0008065 |
| Breast carcinoma |
Breast cancer
|
0003002 |
| Cellulitis |
Bacterial infection of skin
Skin infection
[ more ]
|
0100658 |
| Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
| Dysphonia |
Inability to produce voice sounds
|
0001618 |
| Feeding difficulties in infancy | 0008872 | |
| Fever | 0001945 | |
| Gangrene |
Death of body tissue due to lack of blood flow or infection
|
0100758 |
| Gastrointestinal stroma |
0100723 | |
| Lung adenocarcinoma | 0030078 | |
| Lymphoma |
Cancer of lymphatic system
|
0002665 |
| Myocardial infarction |
Heart attack
|
0001658 |
| Myocarditis |
Inflammation of heart muscle
|
0012819 |
| Pericarditis |
Swelling or irritation of membrane around heart
|
0001701 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Sinus tachycardia | 0011703 | |
| Telangiectasia of the skin | 0100585 | |
| Vasculitis |
Inflammation of blood vessel
|
0002633 |
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
|
|---|
|
The differential diagnoses include muscular dystrophies of late onset, as well as adult-onset nemaline myopathy, proximal myotonic myopathies and systemic lupus erythematosus, pityriasis rubra pilaris, lichen planus (see these terms), and polymorphous light eruption.
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.
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.
