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Items: 1 to 20 of 38

1.

Reduced protein S activity

A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism. [from NCI]

MedGen UID:
69229
Concept ID:
C0242666
Disease or Syndrome
2.

Hereditary protein S deficiency

MedGen UID:
748876
Concept ID:
C2584611
Disease or Syndrome
3.

Protein S deficiency

Heterozygous protein S deficiency, like protein C deficiency (176860), 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 (120830). 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; 614514), which is a more severe disorder. [from GTR]

MedGen UID:
436762
Concept ID:
C2676728
4.

Reduced protein C activity

A rare thrombophilia disorder characterized by deficiency of protein C. It results in venous thromboembolism. [from NCI]

MedGen UID:
96016
Concept ID:
C0398625
Disease or Syndrome
5.

Venous thrombosis

Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. [from HPO]

MedGen UID:
22631
Concept ID:
C0042487
Pathologic Function
6.

Thrombosis

Formation and development of a thrombus or blood clot in the blood vessel. [from MeSH]

MedGen UID:
21160
Concept ID:
C0040053
Pathologic Function
7.

Thrombophlebitis

Inflammation of a vein associated with a blood clot (THROMBUS). [from MeSH]

MedGen UID:
11799
Concept ID:
C0040046
Disease or Syndrome
8.

Pulmonary Embolism

Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS. [from MeSH]

MedGen UID:
11027
Concept ID:
C0034065
Disease or Syndrome
9.

Embolism

Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream. [from MeSH]

MedGen UID:
4916
Concept ID:
C0013922
Pathologic Function
10.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
11.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
12.

Pulmonary embolism

MedGen UID:
505155
Concept ID:
CN001998
Finding
13.

Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant

Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. [from GTR]

MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
14.

Superficial thrombophlebitis

Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). [from HPO]

MedGen UID:
266934
Concept ID:
C1510431
Disease or Syndrome
15.

Autosomal dominant inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. [from HPO]

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
16.

Deep venous thrombosis

A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity.(NICHD) [from NCI]

MedGen UID:
57448
Concept ID:
C0149871
Disease or Syndrome
17.

Protein C

A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [from MeSH]

MedGen UID:
46154
Concept ID:
C0033621
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
18.

Recurrence

The return of a sign, symptom, or disease after a remission. [from MeSH]

MedGen UID:
416712
Concept ID:
C2825055
Pathologic Function
19.

Embolus

A mass of clotted blood or other formed elements, such as bubbles of air, calcium fragments, etc. brought by the blood from another vessel and forced into a smaller one, thus obstructing the circulation. [from NCI]

MedGen UID:
352811
Concept ID:
C1704212
Finding
20.

Thrombus

MedGen UID:
43439
Concept ID:
C0087086
Pathologic Function
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