Oculocutaneous albinism with platelet storage pool deficiency.
- Specialty
- Hematology
- Subspecialty
- Hematology / Platelet disorders
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes
- Gene(s) involved
- AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6
- Alternative names & eponyms
- HPS
Etiology & mechanism
Lysosome-related organelle biogenesis defect.
Gene(s) involved (11)
Symptoms & signs (6)
In plain terms, someone with Hermansky–Pudlak syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
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Shares symptoms with
1 shared
Acquired cerebellar syndrome
nystagmus
1 shared
Alström syndrome
nystagmus
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
nystagmus
1 shared
Chediak–Higashi syndrome
bleeding
1 shared
Dengue shock syndrome
bleeding
1 shared
Disseminated intravascular coagulation syndrome
bleeding
1 shared
Dyskeratosis congenita
pulmonary fibrosis
1 shared
Epstein syndrome
bleeding
1 shared
Jacobsen syndrome
bleeding
1 shared
Kasabach–Merritt syndrome
bleeding
Shares genes with
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