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Hereditary factor XI deficiency disease

MedGen UID:
8770
Concept ID:
C0015523
Disease or Syndrome
Synonyms: Congenital factor XI deficiency; F11 deficiency; Factor XI Deficiency; Plasma thromboplastin antecedent deficiency; PTA deficiency; Rosenthal syndrome
SNOMED CT: Thromboplastin antecedent deficiency (49762007); Hereditary factor XI deficiency disease (49762007); Hemophilia C (49762007); Congenital factor XI deficiency disease (49762007); Plasma thromboplastin antecedent deficiency (49762007); PTA deficiency (49762007); Rosenthal's disease (49762007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
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).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): F11 (4q35.2)
 
Monarch Initiative: MONDO:0012897
OMIM®: 612416
Orphanet: ORPHA329

Definition

Factor XI deficiency is an autosomal bleeding disorder characterized by reduced levels of factor XI in plasma (less than 15 IU/dL). Bleeding occurs mainly after trauma or surgery. On the basis of the concordance or discordance of F11 antigen and activity, the disorder is classified into the more frequent cross-reactive negative (CRM-) and the rarer CRM positive (CRM+) (summary by Duga and Salomon, 2009). [from OMIM]

Additional description

From MedlinePlus Genetics
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a shortage (deficiency) of the factor XI protein, which is involved in blood clotting. This condition is classified as either partial or severe based on the degree of deficiency of the factor XI protein. However, regardless of the severity of the protein deficiency, most affected individuals have relatively mild bleeding problems, and some people with this disorder have few if any symptoms. The most common feature of factor XI deficiency is prolonged bleeding after trauma or surgery, especially involving the inside of the mouth and nose (oral and nasal cavities) or the urinary tract. If the bleeding is left untreated after surgery, solid swellings consisting of congealed blood (hematomas) can develop in the surgical area.\n\nOther signs and symptoms of this disorder can include frequent nosebleeds, easy bruising, bleeding under the skin, and bleeding of the gums. Women with this disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or prolonged bleeding after childbirth. In contrast to some other bleeding disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal tract, or skull cavity are not common in factor XI deficiency, although they can occur in severely affected individuals. Bleeding into the muscles or joints, which can cause long-term disability in other bleeding disorders, generally does not occur in this condition.  https://medlineplus.gov/genetics/condition/factor-xi-deficiency

Clinical features

From HPO
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.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Reduced factor XI activity
MedGen UID:
1368629
Concept ID:
C4317093
Finding
Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary factor XI deficiency disease
Follow this link to review classifications for Hereditary factor XI deficiency disease in Orphanet.

Recent clinical studies

Etiology

Serikyaku H, Higa S, Yara T, Miyata Y
Spine (Phila Pa 1976) 2021 Mar 1;46(5):E349-E352. doi: 10.1097/BRS.0000000000003805. PMID: 33181771
Stoeckle JH, Bogue T, Zwicker JI
Haemophilia 2020 Jul;26(4):663-666. Epub 2020 Jun 17 doi: 10.1111/hae.14081. PMID: 32558038
Wheeler AP, Hemingway C, Gailani D
Expert Rev Hematol 2020 Jul;13(7):719-729. Epub 2020 Jun 12 doi: 10.1080/17474086.2020.1772745. PMID: 32437625Free PMC Article
Lin HY, Lin CY, Hung MH, Kuo SF, Lin JS, Shen MC
Int J Hematol 2020 Aug;112(2):169-175. Epub 2020 Apr 24 doi: 10.1007/s12185-020-02883-0. PMID: 32333264
Santoro C, Di Mauro R, Baldacci E, De Angelis F, Abbruzzese R, Barone F, Bochicchio RA, Ferrara G, Guarini A, Foà R, Mazzucconi MG
Haemophilia 2015 Jul;21(4):496-501. Epub 2015 Jan 27 doi: 10.1111/hae.12628. PMID: 25623511

Diagnosis

Serikyaku H, Higa S, Yara T, Miyata Y
Spine (Phila Pa 1976) 2021 Mar 1;46(5):E349-E352. doi: 10.1097/BRS.0000000000003805. PMID: 33181771
Stoeckle JH, Bogue T, Zwicker JI
Haemophilia 2020 Jul;26(4):663-666. Epub 2020 Jun 17 doi: 10.1111/hae.14081. PMID: 32558038
Wheeler AP, Hemingway C, Gailani D
Expert Rev Hematol 2020 Jul;13(7):719-729. Epub 2020 Jun 12 doi: 10.1080/17474086.2020.1772745. PMID: 32437625Free PMC Article
Peng Y, Nie L, Qin C, Wan L, Zhou P
Acta Haematol 2020;143(5):472-477. Epub 2020 Jan 24 doi: 10.1159/000505012. PMID: 31982874
Santoro C, Di Mauro R, Baldacci E, De Angelis F, Abbruzzese R, Barone F, Bochicchio RA, Ferrara G, Guarini A, Foà R, Mazzucconi MG
Haemophilia 2015 Jul;21(4):496-501. Epub 2015 Jan 27 doi: 10.1111/hae.12628. PMID: 25623511

Therapy

Stoeckle JH, Bogue T, Zwicker JI
Haemophilia 2020 Jul;26(4):663-666. Epub 2020 Jun 17 doi: 10.1111/hae.14081. PMID: 32558038
Ince ME, Ozkan G, Ors N, Yildirim V
J Card Surg 2020 Jun;35(6):1375-1379. Epub 2020 Apr 25 doi: 10.1111/jocs.14581. PMID: 32333444
Bravo-Perez C, Ródenas T, Esteban J, de la Morena-Barrio ME, Salloum-Asfar S, de la Morena-Barrio B, Miñano A, Vicente V, Corral J
Med Clin (Barc) 2019 Nov 29;153(10):373-379. Epub 2019 Mar 26 doi: 10.1016/j.medcli.2019.01.029. PMID: 30926156
Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H
Int J Hematol 2018 Oct;108(4):443-446. Epub 2018 Apr 30 doi: 10.1007/s12185-018-2462-y. PMID: 29713955
Santoro C, Di Mauro R, Baldacci E, De Angelis F, Abbruzzese R, Barone F, Bochicchio RA, Ferrara G, Guarini A, Foà R, Mazzucconi MG
Haemophilia 2015 Jul;21(4):496-501. Epub 2015 Jan 27 doi: 10.1111/hae.12628. PMID: 25623511

Prognosis

Serikyaku H, Higa S, Yara T, Miyata Y
Spine (Phila Pa 1976) 2021 Mar 1;46(5):E349-E352. doi: 10.1097/BRS.0000000000003805. PMID: 33181771
Stoeckle JH, Bogue T, Zwicker JI
Haemophilia 2020 Jul;26(4):663-666. Epub 2020 Jun 17 doi: 10.1111/hae.14081. PMID: 32558038
Lin HY, Lin CY, Hung MH, Kuo SF, Lin JS, Shen MC
Int J Hematol 2020 Aug;112(2):169-175. Epub 2020 Apr 24 doi: 10.1007/s12185-020-02883-0. PMID: 32333264
Gotovac Jerčić K, Blažeković A, Hančević M, Bilić E, Borovečki F
Croat Med J 2020 Feb 29;61(1):62-65. PMID: 32118380Free PMC Article
Ogawa Y, Yanagisawa K, Uchiyama Y, Akashi N, Mieda T, Iizuka H, Inoue M, Shizuka R, Murakami M, Matsumoto N, Handa H
Int J Hematol 2018 Oct;108(4):443-446. Epub 2018 Apr 30 doi: 10.1007/s12185-018-2462-y. PMID: 29713955

Clinical prediction guides

Bertaggia Calderara D, Zermatten MG, Aliotta A, Batista Mesquita Sauvage AP, Carle V, Heinis C, Alberio L
Thromb Haemost 2021 Feb;121(2):150-163. Epub 2020 Sep 13 doi: 10.1055/s-0040-1715899. PMID: 32920807
Shacham Abulafia A, Yaniv Y, Steimatzky A, Orbach-Zinger S, Hadar E, Shmueli A, Borovich A, Ziv E, Rozovski U, Wiznitzer A, Eidelman LA, Raanani P, Spectre G
Haemophilia 2020 Sep;26(5):834-839. Epub 2020 Jul 14 doi: 10.1111/hae.14079. PMID: 32666626
Stoeckle JH, Bogue T, Zwicker JI
Haemophilia 2020 Jul;26(4):663-666. Epub 2020 Jun 17 doi: 10.1111/hae.14081. PMID: 32558038
Lin HY, Lin CY, Hung MH, Kuo SF, Lin JS, Shen MC
Int J Hematol 2020 Aug;112(2):169-175. Epub 2020 Apr 24 doi: 10.1007/s12185-020-02883-0. PMID: 32333264
Bravo-Perez C, Ródenas T, Esteban J, de la Morena-Barrio ME, Salloum-Asfar S, de la Morena-Barrio B, Miñano A, Vicente V, Corral J
Med Clin (Barc) 2019 Nov 29;153(10):373-379. Epub 2019 Mar 26 doi: 10.1016/j.medcli.2019.01.029. PMID: 30926156

Recent systematic reviews

Kulkarni BP, Nair SB, Vijapurkar M, Mota L, Shanbhag S, Ali S, Shetty SD, Ghosh K
PLoS One 2014;9(9):e108683. Epub 2014 Oct 2 doi: 10.1371/journal.pone.0108683. PMID: 25275492Free PMC Article
Qu Y, Nie X, Yang Z, Yin H, Pang Y, Dong P, Zhan S
Southeast Asian J Trop Med Public Health 2014 Mar;45(2):455-66. PMID: 24968688
Franchini M, Manzato F, Salvagno GL, Montagnana M, Lippi G
Ann Hematol 2009 Oct;88(10):931-5. Epub 2009 Jul 17 doi: 10.1007/s00277-009-0792-9. PMID: 19609524
Sotiriadis A, Makrigiannakis A, Stefos T, Paraskevaidis E, Kalantaridou SN
Obstet Gynecol 2007 May;109(5):1146-55. doi: 10.1097/01.AOG.0000260873.94196.d6. PMID: 17470597

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