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Items: 1 to 20 of 41

1.

Reduced protein C activity

MedGen UID:
96016
Concept ID:
C0398625
Disease or Syndrome
2.

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
3.

Retinal vein occlusion

MedGen UID:
19763
Concept ID:
C0035328
Disease or Syndrome
4.

Central retinal vein occlusion

Blockage of the central retinal vein. [from NCI]

MedGen UID:
509679
Concept ID:
C0154841
Disease or Syndrome
5.

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 OMIM]

MedGen UID:
436138
Concept ID:
C2674321
Disease or Syndrome
6.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
7.

Retinaldehyde

A carotenoid constituent of visual pigments. It is the oxidized form of retinol which functions as the active component of the visual cycle. It is bound to the protein opsin forming the complex rhodopsin. When stimulated by visible light, the retinal component of the rhodopsin complex undergoes isomerization at the 11-position of the double bond to the cis-form; this is reversed in "dark" reactions to return to the native trans-configuration. [from MeSH]

MedGen UID:
19764
Concept ID:
C0035331
Organic Chemical; Pharmacologic Substance; Vitamin
8.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
9.

Visual loss

MedGen UID:
784038
Concept ID:
C3665386
Finding
10.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
11.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
12.

Angiogram

MedGen UID:
902359
Concept ID:
C4255126
Finding
13.

Inborn genetic diseases

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
14.

Blood Coagulation Disorders, Inherited

MedGen UID:
163105
Concept ID:
C0852077
Disease or Syndrome
15.

Macropsia

An alteration in visual perception that causes objects to appear larger than their actual size. [from NCI]

MedGen UID:
115934
Concept ID:
C0233771
Finding
16.

Micropsia

An alteration in visual perception that causes objects to appear smaller than their actual size. [from NCI]

MedGen UID:
115933
Concept ID:
C0233769
Sign or Symptom
17.

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 inF2never 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 GeneReviews]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
18.

Metamorphopsia

MedGen UID:
75739
Concept ID:
C0271185
Sign or Symptom
19.

Thrombus

MedGen UID:
43439
Concept ID:
C0087086
Pathologic Function
20.

Embolism and Thrombosis

A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream. [from MeSH]

MedGen UID:
43147
Concept ID:
C0085307
Disease or Syndrome
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