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|
Low blood albumin
|30%-79% of people have these symptoms|
Tiredness[ more ]
Elevated serum cholesterol
Elevated total cholesterol
Increased total cholesterol[ more ]
Elevated lipids in blood
Decreased protein levels in blood
Inability to make and keep healthy fat tissue
Fluid accumulation in lower limbs
Lower leg swelling[ more ]
Premature delivery of affected infants
Preterm delivery[ more ]
|Small for gestational age||
Birth weight less than 10th percentile
Low birth weight[ more ]
|5%-29% of people have these symptoms|
Facial swelling[ more ]
|Low pulse pressure||0030851|
Having too much body fat
Low levels of amniotic fluid
|Recurrent lower respiratory tract infections||
Recurrent chest infections
|Percent of people who have these symptoms is not available through HPO|
Low blood pressure
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 differential diagnosis should include a wide number of pathological conditions that present with reduction of HSA (glomerulonephritis, nephrosis, ascites, systemic lupus erythematosus, intestinal lymphangiectasia, and protein-losing enteropathies; see these terms).
Visit the Orphanet disease page for more information.
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.
NORD RareLaunch® Workshops
December 1, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020
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