| Complex | HPS subtype(s) / gene aliases in evidence | Component genes/subunits listed in evidence | Main disease associations highlighted in retrieved evidence | Key evidence |
|---|---|---|---|---|
| BLOC-1 | HPS-7 = BLOC1S8; HPS-8 = BLOC1S3; HPS-9 = BLOC1S6; HPS-11 = BLOC1S5 | BLOC1S1, BLOC1S2, BLOC1S3/HPS8, BLOC1S4, BLOC1S5/HPS11, BLOC1S6/HPS9, BLOC1S7, BLOC1S8/HPS7 | Causes HPS through lysosome-related organelle (LRO) trafficking defects; core manifestations across HPS include oculocutaneous albinism and platelet dense-granule deficiency/bleeding diathesis. Pulmonary fibrosis is not the major association emphasized for BLOC-1 subtypes in the retrieved reviews. | (pqac-00000025, pqac-00000003, pqac-00000000) |
| BLOC-2 | HPS-3, HPS-5, HPS-6 | HPS3, HPS5, HPS6 | Associated with classic HPS manifestations (albinism and bleeding); overall HPS review notes granulomatous colitis in ~15% of patients, and non-PF subgroup associations are enriched for HPS3/HPS5/HPS6 in OpenTargets evidence. Pulmonary fibrosis is generally not the principal association highlighted for these subtypes in the retrieved reviews. | (pqac-00000001, pqac-00000008, pqac-00000025) |
| BLOC-3 | HPS-1, HPS-4 | HPS1, HPS4 | Major pulmonary-fibrosis-associated complex in HPS. Reviews state HPS-PF is especially linked to HPS-1 and HPS-4, typically beginning in adulthood (often 30–50 years); HPS-1 is described as highly penetrant for PF, with some reviews stating 100% of HPS-1 patients develop HPS-PF. BLOC-3 also acts as a Rab32/38 guanine nucleotide exchange factor relevant to melanosome/LRO cargo trafficking. | (pqac-00000003, pqac-00000006, pqac-00000020, pqac-00000023) |
| AP-3 | HPS-2 = AP3B1; HPS-10 = AP3D1 | AP3B1 (β3A; HPS2), AP3D1 (δ; HPS10), μ3, σ3 | AP-3 disease is linked to HPS with albinism and platelet dysfunction; HPS-2 is specifically associated with pulmonary fibrosis/interstitial lung disease, often earlier in life, and AP-3 defects are also linked to immunodeficiency/immune dysfunction in retrieved reviews. | (pqac-00000025, pqac-00000003, pqac-00000005, pqac-00000023) |
| Cross-complex clinical summary | HPS overall | BLOC-1, BLOC-2, BLOC-3, AP-3 pathways affecting LRO biogenesis | Across HPS subtypes, the recurring phenotype triad is oculocutaneous albinism, platelet dense-granule defect with bleeding diathesis, and variable systemic disease. Pulmonary fibrosis is concentrated in HPS1/HPS2/HPS4; immunodeficiency is most emphasized for AP-3 disease; granulomatous colitis affects about 15% overall in one major review. | (pqac-00000001, pqac-00000005, pqac-00000023) |


*Table: This table summarizes the major molecular complexes underlying Hermansky-Pudlak syndrome, the subtype-defining genes captured in the retrieved evidence, and the main genotype-associated clinical features. It is useful for linking HPS subtypes to pathobiology and phenotype patterns such as pulmonary fibrosis, immunodeficiency, and colitis.*