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Results: 1 to 20 of 23

1.

Antithrombin III

Antithrombin-III (464 aa, ~53 kDa) is encoded by the human SERPINC1 gene. This protein is involved in the negative regulation of serine proteinase activity during blood coagulation. [from NCI]

MedGen UID:
1993
Concept ID:
C0003438
Pharmacologic Substance
2.

Congenital deficiency

MedGen UID:
568787
Concept ID:
C0333006
Congenital Abnormality
3.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
4.

Antithrombins

endogenous family of proteins belonging to the serpin superfamily that neutralizes the action of thrombin; includes fibrin and antithrombin III. [from CRISP]

MedGen UID:
354
Concept ID:
C0003440
Pharmacologic Substance
5.

heparin-sepharose

MedGen UID:
72098
Concept ID:
C0062515
Pharmacologic Substance
6.

Heparin

A sulfur-rich glycosaminoglycan with anticoagulant property. Heparin binds to antithrombin III to form a heparin-antithrombin III complex. The complex binds to and irreversibly inactivates thrombin and other activated clotting factors, such as factors IX, X, XI, and XII, thereby preventing the polymerization of fibrinogen to fibrin and the subsequent formation of clots. [from NCI]

MedGen UID:
42413
Concept ID:
C0019134
Pharmacologic Substance
7.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
8.

Autosomal recessive congenital ichthyosis 2

Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). These phenotypes are now recognized to fall on a continuum; however, the phenotypic descriptions are clinically useful for clarification of prognosis and management. Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. Life-threatening complications in the immediate postnatal period include respiratory distress, feeding problems, and systemic infection. Collodion babies are born with a taut, shiny, translucent or opaque membrane that encases the entire body and lasts for days to weeks. LI and CIE are seemingly distinct phenotypes: classic, severe lamellar ichthyosis (LI) with dark brown, plate-like scale with no erythroderma and CIE with finer whiter scale and underlying generalized redness of the skin. Affected individuals with severe involvement can have ectropion, eclabium, scarring alopecia involving the scalp and eyebrows, and palmar and plantar keratoderma. [from GeneReviews]

MedGen UID:
383774
Concept ID:
C1855792
Disease or Syndrome
9.

Abnormality

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

MedGen UID:
309940
Concept ID:
C1704258
Finding
10.

Molecular Abnormality

Abnormalities that occur in human cells and tissues and models of human cancer. [from NCI]

MedGen UID:
78085
Concept ID:
C0262496
Finding
11.

Lamellar ichthyosis

A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate. [from MeSH]

MedGen UID:
38180
Concept ID:
C0079154
Congenital Abnormality
12.

Antithrombin Proteins

An endogenous family of proteins belonging to the serpin superfamily that neutralizes the action of thrombin. Six naturally occurring antithrombins have been identified and are designated by Roman numerals I to VI. Of these, Antithrombin I (see FIBRIN) and ANTITHROMBIN III appear to be of major importance. [from MeSH]

MedGen UID:
422377
Concept ID:
C2936528
Pharmacologic Substance
13.

Atenativ

MedGen UID:
303933
Concept ID:
C1448439
Pharmacologic Substance
14.

Blood Coagulation Disorders, Inherited

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MeSH]

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

Kybernin

MedGen UID:
136413
Concept ID:
C0651143
Pharmacologic Substance
16.

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 GeneReviews]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
17.

Antithrombin III deficiency

Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992). [from OMIM]

MedGen UID:
75781
Concept ID:
C0272375
Disease or Syndrome
18.

Serpin

Irreversible serine proteinase inhibitors that exert their action on peptidases. Serpins can be localized inside, or outside of the cell, and are found in all groups of organisms with the exception of fungi. In human plasma, serpins represent approximately 2% of the total protein present. [from NCI]

MedGen UID:
48634
Concept ID:
C0036764
Pharmacologic Substance
19.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
20.

Hematological Disease

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include: -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome

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