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Items: 1 to 20 of 53

1.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GTR]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
2.

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
3.

Hypercoagulability

MedGen UID:
463623
Concept ID:
C3160733
Finding
4.

Recurrent abortion

Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent miscarriage, defined as 3 or more consecutive pregnancy losses, affects about 1% of couples; when defined as 2 or more losses, the scale of the problem increases to 5% of all couples trying to conceive (summary by Rai and Regan, 2006). Pregnancy losses have traditionally been designated 'spontaneous abortions' if they occur before 20 weeks gestation and 'stillbirths' if they occur after 20 weeks. Subtypes of spontaneous abortions can be further distinguished on the basis of embryonic development and include anembryonic loss in the first 5 weeks after conception (so-called 'blighted ovum'), embryonic loss from 6 to 9 weeks' gestation, and fetal loss from 10 weeks' gestation through the remainder of the pregnancy. These distinctions are important because the causes of pregnancy loss vary over gestational ages, with anembryonic losses being more likely to be associated with chromosomal abnormalities, for example. Possible etiologies for RPRGL include uterine anatomic abnormalities, cytogenetic abnormalities in the parents or fetus, single gene disorders, thrombophilic conditions, and immunologic or endocrine factors as well as environmental or infectious agents (summary by Warren and Silver, 2008). Genetic Heterogeneity of Recurrent Pregnancy Loss Susceptibility to RPRGL2 (614390) is conferred by mutation in the coagulation factor II gene (176930) on chromosome 11p11; RPRGL3 (614391) by mutation in the ANXA5 gene (131230) on chromosome 4q27; and RPRGL4 (see 270960) by mutation in the SYCP3 gene (604759) on chromosome 12q23. Genetic variation in the conceptus itself that results in decreased viability of the embryo or fetus is discussed in the respective gene and/or phenotype entry (see, e.g., MTHFR, 607093.0004; NLRP7, 609661; hydatidiform mole, 231090). [from GTR]

MedGen UID:
1259
Concept ID:
C0000809
Disease or Syndrome
5.

Spontaneous abortion

A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. [from HPO]

MedGen UID:
39
Concept ID:
C0000786
Finding; Pathologic Function
6.

Live Birth

The complete expulsion or extraction from the mother of a fetus, irrespective of the duration of pregnancy, which, after such expulsion or extraction, breathes or shows any other evidence of life, such as beating of the heart, pulsation of the umbilical cord, or definite movement of voluntary muscles.(NICHD) [from NCI]

MedGen UID:
99201
Concept ID:
C0481667
Finding
7.

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
8.

Coagulation factor II

A plasma protein that is the inactive precursor of thrombin. It is converted to thrombin by a prothrombin activator complex consisting of factor Xa, factor V, phospholipid, and calcium ions. Deficiency of prothrombin leads to hypoprothrombinemia. [from MeSH]

MedGen UID:
19527
Concept ID:
C0033706
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
9.

Anticoagulant

Agents that prevent BLOOD CLOTTING. [from MeSH]

MedGen UID:
1970
Concept ID:
C0003280
Pharmacologic Substance
10.

Trying to conceive

MedGen UID:
600605
Concept ID:
C0420843
Finding
11.

Factor V Leiden mutation

An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage. [from NCI]

MedGen UID:
473218
Concept ID:
C0584960
Disease or Syndrome
12.

Prothrombin

MedGen UID:
417935
Concept ID:
C2828369
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
13.

Direct thrombin inhibitor

Endogenous factors and drugs that directly inhibit the action of THROMBIN, usually by blocking its enzymatic activity. They are distinguished from INDIRECT THROMBIN INHIBITORS, such as HEPARIN, which act by enhancing the inhibitory effects of antithrombins. [from MeSH]

MedGen UID:
354
Concept ID:
C0003440
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
14.

Venous Thromboembolism

Occlusion of the lumen of a vein by a thrombus that has migrated from a distal site via the blood stream. [from NCI]

MedGen UID:
348285
Concept ID:
C1861172
Disease or Syndrome
15.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
16.

Dispril

MedGen UID:
214597
Concept ID:
C0917836
Organic Chemical; Pharmacologic Substance
17.

Ecotrin

MedGen UID:
195861
Concept ID:
C0699274
Organic Chemical; Pharmacologic Substance
18.

Acylpyrin

MedGen UID:
195860
Concept ID:
C0699272
Organic Chemical; Pharmacologic Substance
19.

Zorprin

MedGen UID:
195858
Concept ID:
C0699265
Organic Chemical; Pharmacologic Substance
20.

Acetysal

MedGen UID:
152023
Concept ID:
C0699271
Organic Chemical; Pharmacologic Substance
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