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1.

Hereditary factor IX deficiency disease

Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B), although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. [from GeneReviews]

MedGen UID:
945
Concept ID:
C0008533
Disease or Syndrome
2.

Hemophilia

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.
[from GHR]

MedGen UID:
146334
Concept ID:
C0684275
Disease or Syndrome
3.

Coagulation factor IX

Storage-stable blood coagulation factor acting in the intrinsic pathway of blood coagulation. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease). [from MeSH]

MedGen UID:
41950
Concept ID:
C0015491
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Hemorrhage

MedGen UID:
5503
Concept ID:
C0019080
Pathologic Function
5.

Process

MedGen UID:
923307
Concept ID:
C1951340
Pharmacologic Substance
6.

Spontaneous hemorrhage

MedGen UID:
729753
Concept ID:
C1321132
Pathologic Function
7.

Anti-neutrophil cytoplasmic antibody-associated vasculitis

MedGen UID:
403453
Concept ID:
C2717865
Disease or Syndrome
8.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
9.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
10.

Asymptomatic

MedGen UID:
65413
Concept ID:
C0231221
Finding
11.

Peripheral

On or near an edge or constituting an outer boundary; the outer area. [from NCI]

MedGen UID:
59959
Concept ID:
C0205100
Spatial Concept
12.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
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.

Coagulation Protein Disorders

Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. [from MeSH]

MedGen UID:
108723
Concept ID:
C0600503
Disease or Syndrome
16.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
17.

Disorder, Hemorrhagic

Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). [from MeSH]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
18.

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
19.

Disease of blood AND/OR blood-forming organ

A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. [from NCI]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
20.

Blood clotting factor

Endogenous substances, usually proteins, that are involved in the blood coagulation process. [from MeSH]

MedGen UID:
605
Concept ID:
C0005789
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
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