Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
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
Myelodysplastic syndrome
ASXL1
Myelofibrosis
JAK2
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
Thrombasthenia of Glanzmann and Naegeli
ITGA2B
ITGB3
Thrombocythemia 3
JAK2
Wiskott–Aldrich syndrome
WAS
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
X-linked lymphoproliferative syndrome 2
XIAP
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 susceptibility to infections
Hereditary tumors
Hereditary vascular disease
Hypertension

References:

1.

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

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2.

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

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3.

None (2007) Hematological manifestations of primary mitochondrial disorders.

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4.

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

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Update: May 9, 2019