Orpha Number: 183678
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||
|Percent of people who have these symptoms is not available through HPO|
|Aberrant melanosome maturation||0007384|
Tooth decay[ more ]
|Coarse facial features||
Coarse facial appearance
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)[ more ]
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Low set ears
Lowset ears[ more ]
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference[ more ]
Low blood neutrophil count
Low neutrophil count[ more ]
Absent pigmentation in the eye
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
|Posteriorly rotated ears||0000358|
|Recurrent bacterial infections||
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections[ more ]
|Reduced visual acuity||0007663|
Increased spleen size
Squint eyes[ more ]
|Thin upper lip vermilion||
Thin upper lip
Low platelet count
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
Loss of eyesight
Poor vision[ more ]
|Wide nasal bridge||
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge[ more ]
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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) email@example.com
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
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