The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Aberrant melanosome maturation | - |
| Acetabular dysplasia | - |
| Albinism | - |
| Autosomal recessive inheritance | - |
| Coarse facial features | - |
| Congenital onset | - |
| Fair hair | - |
| Hepatomegaly | - |
| Hip dysplasia | - |
| Intellectual disability, mild | - |
| Long philtrum | - |
| Low-set ears | - |
| Microcephaly | - |
| Motor delay | - |
| Neutropenia | - |
| Nystagmus | - |
| Ocular albinism | - |
| Periodontitis | - |
| Photophobia | - |
| Posteriorly rotated ears | - |
| Pulmonary fibrosis | - |
| Recurrent bacterial infections | - |
| Reduced visual acuity | - |
| Smooth philtrum | - |
| Splenomegaly | - |
| Strabismus | - |
| Thrombocytopenia | - |
| Upslanted palpebral fissure | - |
| Visual impairment | - |
| Wide nasal bridge | - |
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
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.
Insights into the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Thursday, September 15, 2011 -
Friday, September 16, 2011
Location: Lawton Chiles International House (Stone House), National Institutes of Health,
Bethesda,
MD
Description: The goals of this conference are to guide the future direction of studies focusing on pathogenic mechanisms of Hermansky-Pudlak syndrome (HPS) pulmonary fibrosis and to identify potential therapeutic strategies for the treatment of pulmonary fibrosis of HPS.
Contact: Bernadette R. Gochuico(301) 451-7979gochuicb@mail.nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
