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  • Wrong UID 425320
1.

Hereditary factor VIII deficiency disease

Hemophilia A is characterized by deficiency in factor VIII 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 VIII clotting activity. Individuals with severe hemophilia A are usually diagnosed during the first two years of life following bleeding from minor mouth injuries and large "goose eggs" from minor head bumps. Without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month including spontaneous joint bleeds or deep-muscle hematomas, and prolonged bleeding or excessive pain and swelling from minor injuries, surgery, and tooth extractions. Individuals with moderate hemophilia A 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, usually from once a month to once a year. Individuals with mild hemophilia A do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding episodes varies widely, typically from once a year to once every ten years. Individuals with mild hemophilia A are often not diagnosed until later in life. Approximately 30% of heterozygous females have clotting activity below 40% and are at risk for bleeding (even if the affected family member is mildly affected). After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. [from GeneReviews]

MedGen UID:
5501
Concept ID:
C0019069
Disease or Syndrome
2.

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 severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent symptom. 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 post-operative 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 10% of carrier females are at risk for bleeding (even if the affected family member has mild hemophilia B) and are thus symptomatic carriers, 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
3.

von Willebrand disease type 1

von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (~70% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 25% of VWD; the subtypes are: Type 2A, which usually manifests as mild to moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild to moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<5% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding. Diagnosis/testing The diagnosis of VWD typically requires assays of hemostasis factors specific for VWD and/or molecular genetic testing of VWF, the only gene in which pathogenic variants are known to cause VWD. In most cases the diagnosis requires a positive family history. ManagementTreatment of manifestations: Affected individuals benefit from care in a comprehensive bleeding disorders program. Severe bleeding episodes can be prevented or controlled with intravenous infusion of virally inactivated plasma-derived clotting factor concentrates containing both VWF and FVIII; depending on the VWD type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia. Pregnant women with VWD are at increased risk for bleeding complications at or following childbirth. Prevention of primary manifestations: Prophylactic infusions of VWF/FVIII concentrates in individuals with type 3 VWD. Prevention of secondary complications: Cautious use of desmopressin (particularly in those age <2 years because of the potential difficulty in restricting fluids in this age group). Vaccination for hepatitis A and B. Surveillance: Follow up in centers experienced in the management of bleeding disorders. For those with type 3 VWD: periodic evaluations by a physiotherapist to monitor joint mobility. Agents/circumstances to avoid: Activities involving a high risk of trauma, particularly head injury; medications with effects on platelet function (ASA, clopidogrel, or NSAIDS); circumcision in infant males should only be considered following consultation with a hematologist. Evaluation of relatives at risk: If the familial pathogenic variant(s) are known, molecular genetic testing for at-risk relatives to allow early diagnosis and treatment, if needed. Pregnancy management: As VWF levels increase throughout pregnancy, women with baseline VWF and FVIII levels of >30 IU/dL are likely to achieve normal levels by the time of delivery, whereas those with a basal level <20 IU/dL and those with baseline VWF:RCo/VWF:Ag ratio <0.6, are likely to require replacement therapy; desmopressin has been used successfully to cover delivery in women with type 1 VWD; delayed, secondary postpartum bleeding may be a problem. Therapies under investigation: Recombinant VWF, now in clinical trials, is expected to be available soon for use instead of plasma-derived VWF. [from GeneReviews]

MedGen UID:
220393
Concept ID:
C1264039
Disease or Syndrome
4.

Factor VII deficiency

Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations. [from OMIM]

MedGen UID:
8769
Concept ID:
C0015503
Congenital Abnormality; Disease or Syndrome
5.

Factor X deficiency

Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). [from OMIM]

MedGen UID:
4635
Concept ID:
C0015519
Disease or Syndrome
6.

Thrombocytopenia, X-linked

The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities. [from GeneReviews]

MedGen UID:
326416
Concept ID:
C1839163
Disease or Syndrome
7.

Prothrombin deficiency, congenital

Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009). [from OMIM]

MedGen UID:
5714
Concept ID:
C0020640
Disease or Syndrome
8.

Factor xiii, a subunit, deficiency of

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2. [from OMIM]

MedGen UID:
442497
Concept ID:
C2750514
Disease or Syndrome; Finding
9.

Von Willebrand disease, recessive form

von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on hemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (~70% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 25% of VWD; the subtypes are: Type 2A, which usually manifests as mild to moderate mucocutaneous bleeding; Type 2B, which typically manifests as mild to moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances; Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding; Type 2N, which can manifest as excessive bleeding with surgery and mimics mild hemophilia A. Type 3 VWD (<5% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding. Diagnosis/testing The diagnosis of VWD typically requires assays of hemostasis factors specific for VWD and/or molecular genetic testing of VWF, the only gene in which pathogenic variants are known to cause VWD. In most cases the diagnosis requires a positive family history. ManagementTreatment of manifestations: Affected individuals benefit from care in a comprehensive bleeding disorders program. Severe bleeding episodes can be prevented or controlled with intravenous infusion of virally inactivated plasma-derived clotting factor concentrates containing both VWF and FVIII; depending on the VWD type, mild bleeding episodes usually respond to intravenous or subcutaneous treatment with desmopressin, a vasopressin analog. Other treatments that can reduce symptoms include fibrinolytic inhibitors and hormones for menorrhagia. Pregnant women with VWD are at increased risk for bleeding complications at or following childbirth. Prevention of primary manifestations: Prophylactic infusions of VWF/FVIII concentrates in individuals with type 3 VWD. Prevention of secondary complications: Cautious use of desmopressin (particularly in those age <2 years because of the potential difficulty in restricting fluids in this age group). Vaccination for hepatitis A and B. Surveillance: Follow up in centers experienced in the management of bleeding disorders. For those with type 3 VWD: periodic evaluations by a physiotherapist to monitor joint mobility. Agents/circumstances to avoid: Activities involving a high risk of trauma, particularly head injury; medications with effects on platelet function (ASA, clopidogrel, or NSAIDS); circumcision in infant males should only be considered following consultation with a hematologist. Evaluation of relatives at risk: If the familial pathogenic variant(s) are known, molecular genetic testing for at-risk relatives to allow early diagnosis and treatment, if needed. Pregnancy management: As VWF levels increase throughout pregnancy, women with baseline VWF and FVIII levels of >30 IU/dL are likely to achieve normal levels by the time of delivery, whereas those with a basal level <20 IU/dL and those with baseline VWF:RCo/VWF:Ag ratio <0.6, are likely to require replacement therapy; desmopressin has been used successfully to cover delivery in women with type 1 VWD; delayed, secondary postpartum bleeding may be a problem. Therapies under investigation: Recombinant VWF, now in clinical trials, is expected to be available soon for use instead of plasma-derived VWF. [from GeneReviews]

MedGen UID:
338488
Concept ID:
C1848525
Disease or Syndrome
10.

Vitamin k-dependent clotting factors, combined deficiency of, 1

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (612283) and protein S (176880). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting Factors Combined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2; 607473) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1; 608547) on chromosome 16p12-q21. [from OMIM]

MedGen UID:
376381
Concept ID:
C1848534
Disease or Syndrome
11.

Quebec platelet disorder

Quebec platelet disorder is an autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. The disorder shows a favorable therapeutic response to fibrinolytic inhibitors (summary by Diamandis et al., 2009). [from OMIM]

MedGen UID:
356528
Concept ID:
C1866423
Disease or Syndrome
12.

Anti-plasmin deficiency, congenital

Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001). [from OMIM]

MedGen UID:
414178
Concept ID:
C2752081
Disease or Syndrome
13.

Hemophilia A with vascular abnormality

MedGen UID:
336105
Concept ID:
C1844137
Disease or Syndrome
14.

Prostaglandin-endoperoxide synthase deficiency

Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996). [from OMIM]

MedGen UID:
414043
Concept ID:
C2751535
Disease or Syndrome
15.

Factors viii, ix and xi, combined deficiency of

MedGen UID:
341993
Concept ID:
C1851375
Disease or Syndrome
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