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 | |
HPS-7 | 614076 | DTNBP1, HPS7 | 6p22.3 | Component of BLOC-1 | |
HPS-8 | 614077 | BLOC1S3, HPS8 | 19q13.32 | Vesicular transport protein | |
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
|