Genetic classification of Hermansky-Pudlak syndrome

Type of HPS	MIM #	Gene	Locus	Encoding function	Comments
HPS-1	203300	HPS1	10q23.1-10q23.3	Transmembrane protein in BLOC-3 within BLOC-4 and BLOC-5	Common in northwestern Puerto Rico due to founder effect Progressive pulmonary fibrosis and colitis
HPS-2	608233	ADTB3A, AP3B1, HPS2	5q14.1	Lysosomal trafficking	Neutropenia and/or immune defects Pulmonary fibrosis, conductive hearing loss, dysplastic hip
HPS-3	614072	HPS3	3q24	Vesicle-related protein	Found in central Puerto Rico Mild systemic findings Colitis
HPS-4	614073	HPS4	22q11.2-22q12.2	Involved in BLOC-3 and BLOC-4	Pulmonary fibrosis, colitis
HPS-5	614074	HPS5, RU2, KIAA1017	11p13-11p15	Organelle biogenesis	Hyperlipidemia, elevated creatinine clearance
HPS-6	614075	HPS6, RU	10q24.32	Organelle biogenesis	Mild bleeding
HPS-7	614076	DTNBP1, HPS7	6p22.3	Component of BLOC-1	Mild lung disease
HPS-8	614077	BLOC1S3, HPS8	19q13.32	Vesicular transport protein	Mild systemic findings
HPS-9	614171	BLOC1S6, PLDN, PA, HPS9	15q21.1	Intracellular vesicle trafficking	Few cases described Immunodeficiency Developmental delay in some
HPS-10	617050	AP3D1	19p13.3	Lysosomal biogenesis	Few cases described Microcephaly, seizures, global delay Immunodeficiency Pulmonary issues in some
HPS-11	619172	BLOC1S5	6p24.3	Lysosomal biogenesis; cargo transport	Few cases described Mild systemic findings

HPS: Hermansky-Pudlak syndrome; BLOC: biogenesis of lysosome-related organelles complex.

Original figure modified for this publication. From: Summers CG. Albinism. In: Taylor and Hoyt's Pediatric Ophthalmology and Strabismus, 5th ed, Lambert SR, Lyons CJ (Eds), Elsevier, Atlanta 2017. Table used with the permission of Elsevier Inc. All rights reserved.

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Genetic classification of Hermansky-Pudlak syndrome