Conditions / Syndrome
Hermansky-Pudlak syndrome 5
info · Syndrome
A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14.
Signs and symptoms
- Albinism
- Iris transillumination defect
- Prolonged bleeding time
- Absent platelet dense granules
- Ocular albinism
- Reduced visual acuity
- Bruising susceptibility
- Impaired ADP-induced platelet aggregation
- Nystagmus
- Hypoplasia of the fovea