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Hereditary factor II deficiency disease

Known as: Hereditary Prothrombin Deficiency, Hereditary Factor II Deficiency, DYSPROTHROMBINEMIA 
A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.
National Institutes of Health

Related topics

Related topics

4 relations

Broader (1)

Blood Coagulation Disorders, Inherited
Hematopoietic and Lymphoid CellHematopoietic and Lymphoid TissueHereditary Coagulation Factor Deficiency

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Congenital prothrombin deficiency: an update.
Prothrombin (factor II [FII]) deficiency is a rare inherited coagulation disorder, having a prevalence of approximately 1 in 2… 
2013
2013
Molecular defect of 'Prothrombin Amrita': substitution of arginine by glutamine (Arg553 to Gln) near the Na(+) binding loop of prothrombin.
Review
2009
Review
2009
Congenital prothrombin deficiency.
Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two… 
2001
2001
Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia.
Several members of a family from Scranton, Pennsylvania were identified to have normal levels of prothrombin antigen while their… 
Highly Cited
2000
Highly Cited
2000
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency.
Prothrombin deficiency is an autosomal recessive disorder associated with a moderately severe bleeding tendency. In this study… 
Review
1998
Review
1998
Congenital deficiencies and abnormalities of prothrombin.
Prothrombin (factor II) deficiency was first described in 1947 by Quick et al., although the first prothrombin abnormality was… 
1998
1998
Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia.
A 64-year-old white male was referred for evaluation of prolonged prothrombin time (PT) and activated partial thromboplastin time… 
1978
1978
Prothrombin Quick. A newly identified dysprothrombinemia.
The rarest of reported inherited plasmatic coagulopathies involve prothrombin. Only 10 families with significant reductions of… 
1974
1974
Prothrombin padua: a "new" congenital dysprothrombinemia.
Abstract A new congenital dysprothrombinemia is presented. The propositus is a 7-year-old boy who was noted to bleed excessively… 
Highly Cited
1969
Highly Cited
1969
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.
A large family has been studied, 11 of whose members have half-normal plasma concentrations of biological prothrombin activity… 
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