Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
- Albinism
- Carious teeth
- Hepatomegaly
- Hepatosplenomegaly
- Intellectual disability, mild
- Nystagmus
- Periodontitis
- Pulmonary fibrosis
- Splenomegaly
- Strabismus
- Thrombocytopenia
- Ocular albinism
- Photophobia
- Prolonged bleeding time
- Reduced visual acuity
- Low-set ears
- Horizontal nystagmus
- Upslanted palpebral fissure
- Posteriorly rotated ears
- Epicanthus
- Recurrent pneumonia
- Recurrent otitis media
- Neutropenia
- Decreased CD4:CD8 ratio
- Smooth philtrum
- Acetabular dysplasia
- Reduced natural killer cell activity
- Recurrent bacterial infections
- Coarse facial features
- Fair hair
- Wide nasal bridge
- Generalized hypopigmentation
- Motor delay
- Reduced natural killer cell count
- Absent platelet dense granules
- Long philtrum
- Thin upper lip vermilion
- Aberrant melanosome maturation
- Mild global developmental delay
- Chronic oral candidiasis
- Impaired ADP-induced platelet aggregation
- Recurrent abscess formation
- Gastroesophageal reflux
- Microcephaly
- Enlarged platelet dense granules
Show allNot provided
Not provided
Not provided
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
