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Disease Information for Factor XI deficiency

Clinical Manifestations

Signs & Symptoms

Bleeding/excessive from mild trauma

Disease Progression

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Ethnic or Racial Factors

Jewish population

Middle Eastern Population

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Child-Infant Only

Population/Children/all

Laboratory Tests

Abnormal Lab Findings (Non Measured)

Clotting factor assay/abnormal (Lab)

Coagulation/Clotting factors decreased (Lab)

PTT increased normal PT (Lab)

Abnormal Lab Findings - Decreased

Factor XI/PTA (Lab)

Abnormal Lab Findings - Increased

Clotting time/Activated clotting time test (Lab)

Prothrombin consumption (Lab)

PTT/Partial Thromboplastin Time/Activated PTT (Lab)

Thromboplastin generation time (Lab)

Associated Diseases & Rule outs

Associated Disease & Complications

Bleeding complications/Surgery

Bleeding diathesis/hemorrhagic diathesis

Bleeding Tendency

Muscle Hematoma

Postpartum hemorrhage

Disease Mechanism & Classification

Class

CLASS/Hematologic (category)

Pathophysiology

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Process

PROCESS/Autosomal recessive disorder (ex)

PROCESS/Hereditofamilial (category)

PROCESS/Coagulation derangement/disorder (ex)

Synonyms

Synonym

C hemophilia, Congenital factor XI deficiency, Congenital factor XI deficiency disease, DEFIC FACTOR XI, DEFIC PTA, Deficiencies Factor XI, Deficiencies PTA, Deficiency Factor XI, deficiency plasma thromboplastin antecedent (PTA), Deficiency PTA, deficiency PTA (plasma thromboplastin antecedent), FACTOR XI DEFIC, Factor XI Deficiencies, Factor XI deficiency, Haemophilia C, Haemophilia C (Factor XI), Hemophilia C, Hemophilia C (Factor XI), Hereditary factor XI deficiency, Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease (disorder), PLASMA THROMBOPLASTIN ANTECEDENT DEFICIENCY, PTA DEFIC, PTA Deficiencies, PTA deficiency, Rosenthal, ROSENTHAL SYNDROME, Rosenthal Syndromes, Rosenthal's disease, Rosenthals Syndrome, Rosenthal's Syndrome, Rosenthal's Syndromes, Syndrome Rosenthal, Syndrome Rosenthal's, Thromboplastin antecedent defi, Thromboplastin antecedent deficiency, Synonym/Hemophilia C, Synonym/PTA deficiency, Synonym/Rosenthal syndrome

Definition

A deficiency of blood coagulation factor XI (known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia. (Dorland, 27th ed)

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External Links Related to Factor XI deficiency

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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