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|
Tiredness[ more ]
Muscle pain[ more ]
|30%-79% of people have these symptoms|
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat[ more ]
|5%-29% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormality of the pleura||0002103|
|Bone marrow hypocellularity||
Bone marrow failure
Bacterial infection of skin
Skin infection[ more ]
Sensory hallucination[ more ]
Blood in urine
Coughing up blood
Low blood sodium levels
Low blood pressure
Yellowing of the skin[ more ]
Swollen lymph nodes
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
Intermittent migraine headaches
Migraine headaches[ more ]
Inflammation of heart muscle
|Nausea and vomiting||0002017|
Swelling or irritation of membrane around heart
High urine protein levels
Protein in urine[ more ]
Recurrent sore throat
Disturbances of consciousness
Lowered consciousness[ more ]
Renal failure in adulthood[ more ]
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
Infection in blood stream
Increased spleen size
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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 disease has no particular clinical features that clearly distinguish it from other types of pneumonia. Other bacterial (Streptococcus pneumonia, Staphylococcus aureus and Haemophilus influenza) or viral infections that cause pneumonia need to be ruled out.
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.
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.