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Hereditary coagulation factor deficiency

MedGen UID:: 473014
•Concept ID:: C0272316
•: Disease or Syndrome

Synonym:	Hereditary Coagulation Factor Deficiency
SNOMED CT:	Hereditary coagulation factor deficiency (16922007)

Definition

An inherited blood coagulation disorder characterized by deficiency of one of the coagulation factors, resulting in bleeding. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary coagulation factor deficiency

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation factor deficiency syndrome
        Hereditary coagulation factor deficiency
        Congenital factor V deficiency
        Congenital factor VII deficiency
        Congenital prothrombin deficiency
        Hereditary factor I deficiency disease
        Afibrinogenemia
        Congenital afibrinogenemia
        Dysfibrinogenemia
        Familial hypodysfibrinogenemia
        Hereditary Factor III Deficiency
        Hereditary factor IX deficiency disease
        HEMOPHILIA B BRANDENBURG
        Hemophilia B leyden
        Hemophilia b(m)
        Mild hemophilia B
        Moderately severe hemophilia B
        Severe hemophilia B
        Symptomatic form of hemophilia B in female carriers
        Hereditary factor VIII deficiency disease
        Hemophilia A with vascular abnormality
        Mild hemophilia A
        Moderately severe hemophilia A
        Severe hemophilia A
        Symptomatic form of hemophilia A in female carriers
        Hereditary factor X deficiency disease
        Hereditary factor XI deficiency disease
        Hereditary factor XII deficiency disease
        Hereditary factor XIII deficiency disease

Professional guidelines

PubMed

Perioperative Management of Hereditary Factor V Deficiency: Timing of Plasma Administration is Critical in Maximizing Hemostatic Potency of Transfused Factor V.

Tanaka KA, VanDyck K, Shettar SS, Gomes M
J Cardiothorac Vasc Anesth 2022 Jun;36(6):1811-1812. Epub 2022 Jan 19 doi: 10.1053/j.jvca.2022.01.020. PMID: 35181237

Issues in the Diagnosis and Management of Hereditary Antithrombin Deficiency.

Bauer KA, Nguyen-Cao TM, Spears JB
Ann Pharmacother 2016 Sep;50(9):758-67. Epub 2016 Jun 8 doi: 10.1177/1060028016651276. PMID: 27281301

Role of ADAMTS13 in the pathogenesis, diagnosis, and treatment of thrombotic thrombocytopenic purpura.

Kremer Hovinga JA, Lämmle B
Hematology Am Soc Hematol Educ Program 2012;2012:610-6. doi: 10.1182/asheducation-2012.1.610. PMID: 23233642

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