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||
|30%-79% of people have these symptoms|
|Crazy paving pattern on pulmonary HRCT||0025391|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
Low blood oxygen level
Difficulty breathing[ more ]
|Respiratory failure requiring assisted ventilation||0004887|
|Restrictive ventilatory defect||
Stiff lung or chest wall causing decreased lung volume
|5%-29% of people have these symptoms|
|Acute infectious pneumonia||0011949|
|Elevated carcinoembryonic antigen level||0031029|
Fast heart rate
Racing heart[ more ]
Increased respiratory rate or depth of breathing
|Percent of people who have these symptoms is not available through HPO|
|Abnormal pulmonary Interstitial morphology||
Abnormality in area between air sacs in lung
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
Clubbing of fingers and toes
Blue discoloration of the skin
|Desquamative interstitial pneumonitis||0005942|
|Failure to thrive||
Weight faltering[ more ]
Onset in first year of life
Onset in infancy[ more ]
|Intraalveolar phospholipid accumulation||0006517|
Increased blood pressure in blood vessels of lungs
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
Differential diagnosis includes Autoimmune PAP, PAP related to the production of surfactant (e.g. due to mutations in SP-B or SP-C, ABCA3, and NKX2-1), PAP secondary to hematologic disorders and malignancies, toxic dust inhalations, and immune deficiency syndromes, rare infections, mutations affecting functions or numbers of mononuclear phagocytes, and mutations affecting lung development.
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.
The Rare Lung Diseases Consortium: Molecular Pathway-Driven Diagnostics and Therapeutics for Rare Lung Diseases is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research involving pulmonary alveolar proteinosis, Hermansky-Pudlak Syndrome, and Lymphangioleiomyomatosis. A pilot project program supports research into other rare lung diseases that complement the main research projects.
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.