Principal inherited platelet function disorders and underlying genomic defects
| Disorder . | Gene . | Chromosome location . | Main mode of inheritance . |
|---|---|---|---|
| Adhesion defects | |||
| Bernard-Soulier syndrome | GP1BA | 17p13.2 | Autosomal recessive |
| GP1BB | 22q11.21 | Autosomal recessive | |
| GP9 | 3q21.3 | Autosomal recessive | |
| Platelet-type von Willebrand disease | GP1BA | 17p13.2 | Autosomal dominant |
| GP6 deficiency | GP6 | 19q13.4 | Autosomal recessive |
| Receptors and signaling defects | |||
| ADP receptor deficiency | P2RY12 | 3q25.1 | Autosomal recessive |
| Thromboxane A2 receptor deficiency | TBXA2R | 19p13.3 | Autosomal recessive |
| PAR-4 receptor defects | F2RL3 | 19p13.11 | Autosomal dominant |
| Storage pool disease | |||
| Gray platelet syndrome | NBEAL2 | 3p21.31 | Autosomal recessive |
| GFI1B | 9q34.13 | Autosomal dominant | |
| Quebec platelet syndrome | PLAU | 10q22.2 | Autosomal dominant |
| Hermansky-Pudlak syndrome | HPS1 | 10q23.1-q23.3 | Autosomal recessive |
| AP3B1 | 5q14.1 | Autosomal recessive | |
| HPS3 | 3q24 | Autosomal recessive | |
| HPS4 | 22cen-q12.3 | Autosomal recessive | |
| HPS5 | 11p14 | Autosomal recessive | |
| HPS6 | 10q24.32 | Autosomal recessive | |
| HPS7 | 6p22.3 | Autosomal recessive | |
| HPS8 | 19q13.32 | Autosomal recessive | |
| HPS9 | 15q21.1 | Autosomal recessive | |
| Chediak-Higashi syndrome | LYST | 1q41.3 | Autosomal recessive |
| Aggregation defects | |||
| Glanzmann thrombasthenia | ITGA2B | 17q21.31 | Autosomal recessive |
| ITGB3 | 17q21.32 | Autosomal recessive | |
| Glanzmann thrombasthenia-like disorder | RASGRP2 | 11q13 | Autosomal recessive |
| Leukocyte adhesion deficiency-III syndrome | FERMT3 | 11q13.1 | Autosomal recessive |
| Procoagulant activity defects | |||
| Scott syndrome | TMEM16F | 12q12 | Autosomal dominant |
| Disorder . | Gene . | Chromosome location . | Main mode of inheritance . |
|---|---|---|---|
| Adhesion defects | |||
| Bernard-Soulier syndrome | GP1BA | 17p13.2 | Autosomal recessive |
| GP1BB | 22q11.21 | Autosomal recessive | |
| GP9 | 3q21.3 | Autosomal recessive | |
| Platelet-type von Willebrand disease | GP1BA | 17p13.2 | Autosomal dominant |
| GP6 deficiency | GP6 | 19q13.4 | Autosomal recessive |
| Receptors and signaling defects | |||
| ADP receptor deficiency | P2RY12 | 3q25.1 | Autosomal recessive |
| Thromboxane A2 receptor deficiency | TBXA2R | 19p13.3 | Autosomal recessive |
| PAR-4 receptor defects | F2RL3 | 19p13.11 | Autosomal dominant |
| Storage pool disease | |||
| Gray platelet syndrome | NBEAL2 | 3p21.31 | Autosomal recessive |
| GFI1B | 9q34.13 | Autosomal dominant | |
| Quebec platelet syndrome | PLAU | 10q22.2 | Autosomal dominant |
| Hermansky-Pudlak syndrome | HPS1 | 10q23.1-q23.3 | Autosomal recessive |
| AP3B1 | 5q14.1 | Autosomal recessive | |
| HPS3 | 3q24 | Autosomal recessive | |
| HPS4 | 22cen-q12.3 | Autosomal recessive | |
| HPS5 | 11p14 | Autosomal recessive | |
| HPS6 | 10q24.32 | Autosomal recessive | |
| HPS7 | 6p22.3 | Autosomal recessive | |
| HPS8 | 19q13.32 | Autosomal recessive | |
| HPS9 | 15q21.1 | Autosomal recessive | |
| Chediak-Higashi syndrome | LYST | 1q41.3 | Autosomal recessive |
| Aggregation defects | |||
| Glanzmann thrombasthenia | ITGA2B | 17q21.31 | Autosomal recessive |
| ITGB3 | 17q21.32 | Autosomal recessive | |
| Glanzmann thrombasthenia-like disorder | RASGRP2 | 11q13 | Autosomal recessive |
| Leukocyte adhesion deficiency-III syndrome | FERMT3 | 11q13.1 | Autosomal recessive |
| Procoagulant activity defects | |||
| Scott syndrome | TMEM16F | 12q12 | Autosomal dominant |