Hermansky-Pudlak syndrome 2
MONDO:0011997
Any Hermansky-Pudlak syndrome in which the cause of the disease is a variation in the AP3B1 gene that impairs the formation of lysosome‑related organelles, including melanosomes and platelet dense granules. It presents with oculocutaneous albinism and a platelet‑type bleeding diathesis from dense‑granule deficiency. A distinguishing feature is immunodeficiency with neutropenia and recurrent infections; pulmonary complications can occur.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Hermansky-Pudlak syndrome 2
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.