U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Gene

Hereditary factor X deficiency disease

MedGen UID:
543976
Concept ID:
C0272327
Disease or Syndrome
Synonyms: Congenital factor X deficiency; STUART-PROWER FACTOR DEFICIENCY
SNOMED CT: Hereditary factor X deficiency disease (37350004); Hereditary Stuart factor deficiency disease (37350004); Hereditary Stuart-Prower deficiency disease (37350004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): F10 (13q34)
 
Monarch Initiative: MONDO:0009212
OMIM®: 227600
Orphanet: ORPHA328

Definition

A rare inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms. [from ORDO]

Clinical features

From HPO
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Hemorrhage occurring within the skull.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Gingival bleeding
MedGen UID:
42218
Concept ID:
C0017565
Pathologic Function
Hemorrhage affecting the gingiva.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Prolonged partial thromboplastin time
MedGen UID:
66815
Concept ID:
C0240671
Finding
Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms.
Prolonged prothrombin time
MedGen UID:
208879
Concept ID:
C0853225
Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Prolonged bleeding after surgery
MedGen UID:
867284
Concept ID:
C4021646
Pathologic Function
Bleeding that persists longer than the normal time following a surgical procedure.
Reduced factor X activity
MedGen UID:
892449
Concept ID:
C4024702
Finding
Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa).
Intramuscular hematoma
MedGen UID:
777032
Concept ID:
C0240412
Finding
Blood clot formed within muscle tissue following leakage of blood into the tissue.

Term Hierarchy

Professional guidelines

PubMed

Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Álvarez Román MT, Millar CM
Blood Rev 2021 Nov;50:100833. Epub 2021 Apr 27 doi: 10.1016/j.blre.2021.100833. PMID: 34024682

Recent clinical studies

Etiology

Branchford B, Clark K, Stanford RH, Garner DA, Huang SP, Wolford E
Blood Coagul Fibrinolysis 2024 Apr 1;35(3):73-81. Epub 2024 Feb 21 doi: 10.1097/MBC.0000000000001275. PMID: 38305129Free PMC Article
Dejhansathit S, Suvannasankha A
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619832332. doi: 10.1177/2324709619832332. PMID: 30947547Free PMC Article
Kulkarni R, James AH, Norton M, Shapiro A
J Thromb Haemost 2018 May;16(5):849-857. Epub 2018 Apr 10 doi: 10.1111/jth.13983. PMID: 29460388
Fair DS, Edgington TS
Br J Haematol 1985 Feb;59(2):235-48. doi: 10.1111/j.1365-2141.1985.tb02990.x. PMID: 3970856

Diagnosis

Branchford B, Clark K, Stanford RH, Garner DA, Huang SP, Wolford E
Blood Coagul Fibrinolysis 2024 Apr 1;35(3):73-81. Epub 2024 Feb 21 doi: 10.1097/MBC.0000000000001275. PMID: 38305129Free PMC Article
Peyvandi F, Auerswald G, Austin SK, Liesner R, Kavakli K, Álvarez Román MT, Millar CM
Blood Rev 2021 Nov;50:100833. Epub 2021 Apr 27 doi: 10.1016/j.blre.2021.100833. PMID: 34024682
Kulkarni R, James AH, Norton M, Shapiro A
J Thromb Haemost 2018 May;16(5):849-857. Epub 2018 Apr 10 doi: 10.1111/jth.13983. PMID: 29460388

Therapy

Dejhansathit S, Suvannasankha A
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619832332. doi: 10.1177/2324709619832332. PMID: 30947547Free PMC Article
Kulkarni R, James AH, Norton M, Shapiro A
J Thromb Haemost 2018 May;16(5):849-857. Epub 2018 Apr 10 doi: 10.1111/jth.13983. PMID: 29460388

Clinical prediction guides

Saxena R, Gupta M, Gupta PK, Kashyap R, Choudhry VP, Bhargava M
Haemophilia 2003 Mar;9(2):193-6. doi: 10.1046/j.1365-2516.2003.00720.x. PMID: 12614371
Goodnough LT, Saito H, Ratnoff OD
Medicine (Baltimore) 1983 Jul;62(4):248-55. doi: 10.1097/00005792-198307000-00004. PMID: 6348471

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...