Disease & disorder
Hermansky-Pudlak syndrome 7
MONDO:0013559
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene, leading to defective melanosomes and lack of platelet dense granules. Core features comprise oculocutaneous/ocular albinism with visual impairment and a platelet‑type bleeding diathesis. Granulomatous colitis has been reported in some patients.
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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MONDO disease family
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Recruiting studies by city
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Trial status
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Trial phase
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Study start year
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Investigated drug interventions
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Background context
Hermansky-Pudlak syndrome 7
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.