Hermansky-Pudlak syndrome 10
MONDO:0014885
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene disrupts AP‑3–dependent trafficking to lysosome‑related organelles, including melanosomes and platelet dense granules. Alongside oculocutaneous albinism and a platelet‑type bleeding diathesis, affected individuals develop early‑onset immunodeficiency and severe neurologic impairment (e.g., profound developmental delay and refractory seizures). Additional findings can include interstitial lung disease and hepatosplenomegaly.
Disease research snapshot
No clinical trials have been linked to this exact normalized concept in the current published dataset. This is a coverage limitation, not evidence that the condition or medicine has never been studied. Try a synonym or browse registry-reported labels.
Numbers are derived from CureCurrent's current ClinicalTrials.gov projection and conservative MONDO/RxNorm mappings. See sources, counting rules and limitations and verify eligibility or clinical findings with the original study record.
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.
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Hermansky-Pudlak syndrome 10
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
How to interpret this record
CureCurrent links normalized diseases, medicines, registry study labels, sponsors and research sites. A link is not the same as a finding of clinical effectiveness. Our research guides explain how to compare studies, decode RxNorm identities, and avoid over-interpreting site and trial counts. See the published database coverage for mapping completeness.
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.