Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Hereditary bleeding disorders

Hereditary defects in coagulation factors form up this group.

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
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
Inheritable platelet disorders
MIRAGE syndrome
Ovalocytosis
Paroxysmal nocturnal hemoglobinuria
Retinitis pigmentosa and erythrocytic microcytosis
Thromboembolic diseases
Vasculitis due to ADA2 deficiency

References:

1.

Basi DL et al. (1999) Bleeding and coagulation problems in the dental patient. Hereditary disease and medication-induced risks.

external link
2.

Baker WF et al. (1999) Treatment of hereditary and acquired thrombophilic disorders.

external link
3.

Nitu-Whalley IC et al. (1999) Acquired von Willebrand syndrome--report of 10 cases and review of the literature.

external link
4.

Santagostino E et al. (2000) Guidelines on replacement therapy for haemophilia and inherited coagulation disorders in Italy.

external link
5.

None (2000) Coagulation and bleeding disorders: review and update.

external link
6.

None (2001) Vascular thrombohemorrhagic disorders: hereditary and acquired.

external link
7.

None (2004) Inherited bleeding disorders: disorders of platelet adhesion and aggregation.

external link
8.

Roberts HR et al. (2004) Current concepts of hemostasis: implications for therapy.

external link
9.

None (2005) von Willebrand disease in the developing world.

external link
10.

Peyvandi F et al. (2006) Genetic diagnosis of haemophilia and other inherited bleeding disorders.

external link
11.

Asselta R et al. (2006) The molecular basis of quantitative fibrinogen disorders.

external link
12.

Dargaud Y et al. (2007) Haemophilia therapies.

external link
13.

Franchini M et al. (2007) Prophylaxis in von Willebrand disease.

external link
14.

Hill M et al. (2008) Diagnosis, clinical features and molecular assessment of the dysfibrinogenaemias.

external link
15.

None (2009) Role of antithrombin concentrate in treatment of hereditary antithrombin deficiency. An update.

external link
16.

None (1996) Disorders of platelet function.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits