Inheritable platelet disorders

Inborn platelet disorders include diseases characterized by platelet dysfunction and morphology.

Systematic

Hereditary diseases of the hematopoetic system and coagulopathies
	Aplastic anemia
	Autoimmune lymphoproliferative syndrome 5
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
	Disorders of cobalamin metabolism
	Familial erythrocytosis 2
	Familial hemophagocytic lymphohistiocytosis
	H syndrome
	Hereditary bleeding disorders
	Hereditary malign blood disorders
	Inheritable platelet disorders
		Alloimmune thrombocytopenia
			ITGA2B
			ITGB3
		Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
			WDR1
		Bernard-Soulier syndrome
			GP1BA
			GP1BB
			GP9
		Bleeding disorder platelet-type 9
			ITGA2
		Glycoprotein 1a deficiency
			ITGA2
		IVIC syndrome
			SALL4
		MYH9 related disorders
			Epstein syndrome
				MYH9
			Fechtner syndrome
				MYH9
			MYH9
			Sebastian syndrome
				MYH9
		Mediterranean macrothrombocytopenia
			ABCG5
			ABCG8
		TAR syndrome
			RBM8A
		Thrombasthenia of Glanzmann and Naegeli
			ITGA2B
			ITGB3
		Thrombocythemia 3
			JAK2
		Wiskott–Aldrich syndrome
			WAS
	MIRAGE syndrome
	Ovalocytosis
	Paroxysmal nocturnal hemoglobinuria
	Retinitis pigmentosa and erythrocytic microcytosis
	Thromboembolic diseases
	Vasculitis due to ADA2 deficiency

References:

1.	None (2005) Qualitative disorders of platelets and megakaryocytes.

2.	Nurden P et al. (2008) Congenital disorders associated with platelet dysfunctions.

3.	OMIM.ORG article Omim 273800

Update: June 23, 2025

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