Parents

Disease burden and prevalence
The AP3D1-associated multisystem disorder is rare and its disease burden and prevalence is unknown.

Inheritance
Hermansky-Pudlak syndrome 10 is an autosomal recessive disorder. The child develops the syndrome if he or she inherits a gene copy from the mutated gene from each parent, who usually do not have the genetic disorder.

Clinical characteristics
Individuals with AP3D1-associated multisystem disorder show hypopigmentation, immunodeficiency, additionally with a variety of multisystem abnormalities (e.g., neurodevelopmental delay, seizures).

Management
There is no causal treatment. General treatment of individuals relates to alleviating symptoms and improving quality of life.