This website provides information on patients with pathogenic variants in the adaptor-related protein complex 3, delta-1 subunit gene (AP3D1), including clinical data, molecular data, management, and research options.
The syndrome caused by homozygous variants in AP3D1, which encodes the δ subunit of the AP3 complex, is a multisystem disorder (referred to as Hermansky-Pudlak syndrome 10) characterized by:
• Oculocutaneous albinism
• Interstitial lung disease
• Neurodevelopmental delay
• Dysmorphic facies
Not all individuals with pathogenic variants in AP3D1 necessarily share all of the above features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with variants in AP3D1.
Maxi Leona Wiese, Graduate Student, Department of Pediatrics, University of Cologne, Cologne, Germany, email@example.com
Hormos Dafsari, MD, Department of Pediatrics, University of Cologne, Cologne, Germany, Hormos.Dafsari@uk-koeln.de