Table 2.

Inherited platelet function disorders: disorders in which platelet dysfunction is the dominant phenotypic feature independent of platelet count.

Disease	Inheritance	Gene	Bleeding Diathesis
Arthrogryposis, renal dysfunction and cholestasis	AR	VPS33B VIPAS39	Severe
CalDAG-GEFI related platelet disorder	AR	RASGRP2	Moderate-severe
Cediak-Higashi Syndrome	AR	CHS1	Moderate-severe
Combined alpha-delta granule deficiency	AR/AD	Unknown	Mild-moderate
COX-1 deficiency	AR/AD	PTGSA	Moderate-severe
Delta granule deficiency	AR/AD	Unknown	Mild-moderate
Glanzmann thrombasthenia	AR	ITGA2B, ITGB3	Moderate-severe
Glycoprotein IV (GPIV) deficiency	AR	GP4	Mild
Glycoprotein VI (GPVI) deficiency	AR	GP6	Mild
Gs platelet defect	AD (if paternally inherited)	GNAS	Mild
Hermansky–Pudlak syndrome	AR	HPS1, ADTB3A, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, AP3D1, BLOC1S6	Moderate-severe
Leukocyte adhesion deficiency, type III	AR	FERMT3	Moderate-severe
P2Y12 deficiency	AR	P2RY12	Moderate-severe
Phospholipase A2 (cPLA2) deficiency	not determined	PLA2G4A	Moderate-severe
PKCδ deficiency	AR	PRKCD	Absent
Primary secretion defect	AR/AD	Unknown	Mild-moderate
Quebec platelet disorder	AD	PLAU	Moderate-severe
Scott syndrome	AR	TMEM16F	Mild-moderate
Thromboxane A2 receptor defect	AD	TBXA2R	Mild
Tx synthase deficiency	AD/AR	TBXAS1	Moderate