PROS1 gene related symptoms and diseases

Description

Heterozygous protein S deficiency, like protein C deficiency (OMIM ), is characterized by recurrent venous thrombosis. Bertina (1990) classified protein S deficiency into 3 clinical subtypes based on laboratory findings. Type I refers to deficiency of both free and total protein S as well as decreased protein S activity; type II shows normal plasma values, but decreased protein S activity; and type III shows decreased free protein S levels and activity, but normal total protein S levels. Approximately 40% of protein S circulates as a free active form, whereas the remaining 60% circulates as an inactive form bound to C4BPA (OMIM ).Zoller et al. (1995) observed coexistence of type I and type III PROS1-deficient phenotypes within a single family and determined that the subtypes are allelic. Under normal conditions, the concentration of protein S exceeds that of C4BPA by approximately 30 to 40%. Thus, free protein S is the molar surplus of protein S over C4BPA. Mild protein S deficiency will thus present with selective deficiency of free protein S, whereas more pronounced protein S deficiency will also decrease the complexed protein S and consequently the total protein S level. These findings explained why assays for free protein S have a higher predictive value for protein S deficiency.See also autosomal recessive thrombophilia due to protein S deficiency (THPH6 ), which is a more severe disorder.

Most common symptoms of PROTEIN S ACQUIRED DEFICIENCY

• Abnormality of metabolism/homeostasis
• Stroke
• Hemiparesis
• Purpura
• Venous thrombosis

SOURCES: MESH ORPHANET OMIM

Alternate names

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 Is also known as proc cofactor deficiency, apc resistance, thrombophilia due to deficiency of activated protein c cofactor, activated protein c resistance, thrombophilia v, pccf deficiency

Description

Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant to cleavage and inactivation by activated protein C (PROC ) and results in a tendency to thrombosis.See also factor V deficiency (OMIM ), an allelic disorder resulting in a hemorrhagic diathesis due to lack of factor V.The most common mutation that causes this disorder is referred to as factor V Leiden (R506Q; {612309.0001}), named after the town in the Netherlands where Bertina et al. (1994) discovered the defect. Homozygosity increases the risk of thrombotic complications to a greater extent than heterozygosity. However, heterozygous presence of the mutation may be combined with defects in other genes in the clotting pathway to contribute to the disorder. Expressivity is variable and influenced by environment.

Most common symptoms of THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2

• Patent ductus arteriosus
• Scarring
• Abnormal bleeding
• Sepsis
• Purpura

SOURCES: OMIM MESH

Description

Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984).See also autosomal dominant thrombophilia due to protein S deficiency (THPH5 ), a less severe disorder caused by heterozygous mutation in the PROS1 gene.

Most common symptoms of THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6

• Seizures
• Blindness
• Retinopathy
• Purpura
• Shock

SOURCES: OMIM

Alternate names

SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY Is also known as autosomal recessive thrombophilia due to congenital protein s deficiency

Description

Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S.

Most common symptoms of SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY

• Retinopathy
• Abnormality of skin pigmentation
• Thin skin
• Skin ulcer
• Purpura

SOURCES: ORPHANET