Hermansky-Pudlak syndrome

MONDO:0019312

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

Also known as: HPS, HPS (Hermansky Pudlak syndrome), Hepatopulmonary Syndrome, Hermansky Pudlak syndrome

8 clinical trials for this condition and its sub-types, 4 tagged with Hermansky-Pudlak syndrome itself.

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Where it sits in the disease tree

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↑ Inherited blood coagulation disorder (323) ↑ Disorder of lysosomal-related organelles (17) ↑ Syndromic oculocutaneous albinism (12)

Sub-types of Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome with pulmonary fibrosis 0 trials · 1 incl. sub-types
2 sub-types
- Hermansky-Pudlak syndrome 1 1 trial
- Hermansky-Pudlak syndrome 4 1 trial
Hermansky-Pudlak syndrome 10 0 trials
Hermansky-Pudlak syndrome 11 0 trials
Hermansky-Pudlak syndrome 2 0 trials
Hermansky-Pudlak syndrome 7 0 trials
Hermansky-Pudlak syndrome 8 0 trials
Hermansky-Pudlak syndrome 9 0 trials
Hermansky-Pudlak syndrome without pulmonary fibrosis 0 trials
3 sub-types
- Hermansky-Pudlak syndrome 3 0 trials
- Hermansky-Pudlak syndrome 5 0 trials
- Hermansky-Pudlak syndrome 6 0 trials
Kotzot-Richter syndrome 0 trials

Including sub-types (8) Tagged with Hermansky-Pudlak syndrome (4)

Trials to join now! 2 Not yet finished but already full! 2

Hermansky-Pudlak syndrome

Where it sits in the disease tree

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