Hereditary diseases of the hematopoetic system and coagulopathies

This large group of familial haematological diseases includes disorders in all blood cell lines and coagulation factors.

Systematic

Hereditary diseases
	Disposition to infections
	Genetic alterations of drug tolerance
	Hereditary broncho-pulmonary disease
	Hereditary cardiac disease
	Hereditary dermatological disorders
	Hereditary diseases of the hematopoetic system and coagulopathies
		Aplastic anemia
			PRF1
		Autoimmune lymphoproliferative syndrome 5
			CTLA4
		Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
			TRNT1
		Disorders of cobalamin metabolism
			Classical homocysteinuria
				CBS
			Homocystinuria-megaloblastic anemia cblE
				MTRR
			Homocystinuria-megaloblastic anemia cblG
				MTR
			Methylmalonic aciduria and homocystinuria cblC
				MMACHC
			Methylmalonic aciduria and homocystinuria cblD
				MMADHC
			Methylmalonic aciduria and homocystinuria cblF
				LMBRD1
			Methylmalonic aciduria and homocystinuria cblJ
				ABCD4
			Methylmalonic aciduria cblA
				MMAA
			Methylmalonic aciduria cblB
				MMAB
			Methylmalonic aciduria type mut
				MUT
		Familial erythrocytosis 2
			VHL
		Familial hemophagocytic lymphohistiocytosis
			Familial hemophagocytic lymphohistiocytosis 1
			Familial hemophagocytic lymphohistiocytosis 2
				PRF1
			Familial hemophagocytic lymphohistiocytosis 3
				UNC13D
			Familial hemophagocytic lymphohistiocytosis 4
				STX11
			Familial hemophagocytic lymphohistiocytosis 5
				STXBP2
		H syndrome
			SLC29A3
		Hereditary bleeding disorders
			Afibrinogenemia
				FGA
				FGB
				FGG
			Disturbances of vitamin K metabolism
				Combined deficiency of vitamin K-dependent clotting factors type 1
					GGCX
				Combined deficiency of vitamin K-dependent clotting factors type 2
					VKORC1
				Coumarin resistance
					CYP2A6
					CYP2C9
					CYP4F2
					VKORC1
				Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
					GGCX
			Dysfibrinogenemia
				FGA
				FGB
				FGG
			Factor XII deficiency
				F12
			Factor XIII A subunit deficiency
				F13A1
			Factor XIII B subunit deficiency
				F13B
			Plasminogen activator inhibitor deficiency
				SERPINE1
		Hereditary malign blood disorders
			Acute myeloid leukemia
				JAK2
			Juvenile myelomonocytic leukemia
				NF1
			Lymphoproliferative syndrome
				Autoimmune lymphoproliferative syndrome type 2
					CASP10
				Lymphoproliferative syndrome 1
					ITK
				X-linked lymphoproliferative syndrome 1
					SH2D1A
				X-linked lymphoproliferative syndrome 2
					XIAP
			Myelodysplastic syndrome
				ASXL1
			Myelofibrosis
				JAK2
			Non-Hodgkin lymphoma
				CASP10
			Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
				CBL
			Polycythemia vera
				JAK2
			Somatic erythrocytosis
				JAK2
			Susceptibility to acute myeloid leukemia
				GATA2
			Susceptibility to myelodysplastic syndrome
				GATA2
		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
			SAMD9
		Ovalocytosis
			SLC4A1
		Paroxysmal nocturnal hemoglobinuria
			PIGA
		Retinitis pigmentosa and erythrocytic microcytosis
			TRNT1
		Thromboembolic diseases
			Autosomal dominant protein C deficiency
				PROC
			Autosomal dominant protein S deficiency
				PROS1
			Autosomal recessive protein C deficiency
				PROC
			Autosomal recessive protein S deficiency
				PROS1
			F2
			F5
			Factor XII deficiency
				F12
			HABP2
			Hyperhomocysteinemic thrombosis
				CBS
			Hypoplasminogenemia
				Dysplasminogenemia
					PLG
				Hypoplasminogenemia
					PLG
			MTHFR
			PAI transcription modulator
				SERPINE1
			Protein Z deficiency
				PROZ
				SERPINA10
			SERPINC1
			THBD
			Thrombophilia due to heparin cofactor 2 deficiency
				SERPIND1
			VKORC1
		Vasculitis due to ADA2 deficiency
			ADA2
	Hereditary endocrinological diseases
	Hereditary immunological disorders
	Hereditary kidney diseases
	Hereditary liver disease
	Hereditary malformations
	Hereditary metabolic diseases
	Hereditary musculoskeletal diseases
	Hereditary neurological disorders
	Hereditary ocular disease and visual impairment
	Hereditary otorhinolaryngological disorders
	Hereditary pancreatic disease
	Hereditary tumors
	Hereditary vascular disease
	Hypertension

References:

1.	Herzog RW et al. (2001) Gene therapy for hereditary hematological disorders.

2.	Herzog RW et al. (2003) Update on gene therapy for hereditary hematological disorders.

3.	None (2007) Hematological manifestations of primary mitochondrial disorders.

4.	Tatlisumak T et al. (1996) Hematologic disorders associated with ischemic stroke.

Update: June 23, 2025

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