Hermansky-Pudlak syndrome 4

MONDO:0013556

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene.

Also known as: HPS4 Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome caused by mutation in HPS4, Hermansky-Pudlak syndrome type 4, HPS4

65 clinical trials for this condition and its sub-types, 1 tagged with Hermansky-Pudlak syndrome 4 itself.

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Where it sits in the disease tree

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↑ Hermansky-Pudlak syndrome with pulmonary fibrosis (1)

Including sub-types (65) Tagged with Hermansky-Pudlak syndrome 4 (1)

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Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Hermansky-Pudlak syndrome 4

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth