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Disease Profile
Hermansky Pudlak syndrome 2
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
E70.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HPS2; Hermansky-Pudlak syndrome 2; Platelet defects and oculocutaneous albinism
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Orpha Number: 183678
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
1%-4% of people have these symptoms | ||
Acetabular dysplasia | 0008807 | |
Albinism | 0001022 | |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Chronic oral candidiasis |
Chronic oral thrush
|
0009098 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Fair hair |
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
[ more ] |
0002286 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Enlarged liver and spleen
|
0001433 | |
Horizontal |
0000666 | |
Impaired ADP-induced |
0004866 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Mild global |
0011342 | |
Motor delay | 0001270 | |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Periodontitis | 0000704 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Prolonged bleeding time | 0003010 | |
Recurrent abscess formation | 0002722 | |
Recurrent bacterial infections |
Bacterial infections, recurrent
Frequent bacterial infections
Increased susceptibility to bacterial infections
Recurrent major bacterial infections
[ more ] |
0002718 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent pneumonia | 0006532 | |
Reduced natural killer |
0012178 | |
Reduced natural killer cell count | 0040218 | |
Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
Splenomegaly |
Increased spleen size
|
0001744 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
Low platelet count
|
0001873 | |
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 ] |
0000431 |
Percent of people who have these symptoms is not available through HPO | ||
Aberrant melanosome maturation | 0007384 | |
0000007 | ||
Symptoms present at birth
|
0003577 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Ocular albinism |
Absent pigmentation in the eye
|
0001107 |
Pulmonary fibrosis | 0002206 | |
Smooth philtrum | 0000319 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Diagnosis
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.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
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.
Organizations Supporting this Disease
-
Hermansky-Pudlak Syndrome Network, Inc.
1 South Road
Oyster Bay, NY 11771-1905
Toll-free: 800-789-9477
Fax: 516-624-0640
E-mail: [email protected]
Website: https://www.hpsnetwork.org -
Platelet Disorder Support Association
8751 Brecksville Road
Suite 150
Cleveland, OH 44141
Toll-free: 87-PLATELET (1-877-528-3538)
Telephone: 440-746-9003
Fax: 844-270-1277
E-mail: [email protected]
Website: https://www.pdsa.org/ -
The National Organization of Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH 03826-0959
Toll-free: 800-473-2310;
Telephone: 603-887-2310
E-mail: [email protected]
Website: https://www.albinism.org
Learn more
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Hermansky Pudlak syndrome 2. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Dermatologic Manifestations of Hermansky-Pudlak syndrome
Hermansky Pudlak syndrome Ophthalmology - The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hermansky Pudlak syndrome 2. Click on the link to view a sample search on this topic.