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Hermansky-Pudlak syndrome without pulmonary fibrosis

MONDO:0016502

Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.

Also known as: HPS without pulmonary fibrosis

4 clinical trials for this condition and its sub-types.

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Sub-types

Hermansky-Pudlak syndrome 3 (0) Hermansky-Pudlak syndrome 5 (0) Hermansky-Pudlak syndrome 6 (0)

Broader categories

Disease (680) Metabolic disease (233) Hereditary disease (176) Hematologic disorder (170) Skin disorder (132) Blood coagulation disease (53) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Skin pigmentation disorder (11)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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  • Scientists dig into genetic roots of rare bleeding disorders

    Knowledge-focused Recruiting now

    This study looks at how blood cells interact and what goes wrong in inherited bleeding disorders like Glanzmann thrombasthenia. Researchers will analyze blood samples from up to 60 healthy volunteers and patients to find genetic defects. The goal is to better understand these con…

    Sponsor: Rockefeller University • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:55 UTC

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