FA11D
MCID: FCT002
MIFTS: 58

Factor Xi Deficiency (FA11D)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Factor Xi Deficiency

MalaCards integrated aliases for Factor Xi Deficiency:

Name: Factor Xi Deficiency 57 12 53 25 75 37 55 44 15 73
Plasma Thromboplastin Antecedent Deficiency 57 12 53 25 59 75
Rosenthal Syndrome 57 53 25 59 75
Pta Deficiency 57 53 25 59 75
Hemophilia C 12 53 25 59 75
Rosenthal Factor Deficiency 53 25 59 75
F11 Deficiency 57 53 25 75
Hereditary Factor Xi Deficiency Disease 12 29 6
Congenital Factor Xi Deficiency 12 53 59
Factor Xi Deficiency, Autosomal Dominant 57 13
Factor 11 Deficiency 25 75
Rosenthal's Disease 12 25
Factor Xi Deficiency, Autosomal Recessive 57
Factor Xi Deficiency, Congenital 76
Deficiency, Factor Xi 40
Haemophilia C 25
Fa11d 75

Characteristics:

Orphanet epidemiological data:

59
congenital factor xi deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32

Classifications:



External Ids:

OMIM 57 612416
Disease Ontology 12 DOID:2229
ICD10 33 D68.1
ICD9CM 35 286.2
MeSH 44 D005173
NCIt 50 C84705
SNOMED-CT 68 49762007
Orphanet 59 ORPHA329
ICD10 via Orphanet 34 D68.1
UMLS via Orphanet 74 C0015523
MedGen 42 C0015523
KEGG 37 H00938
UMLS 73 C0015523

Summaries for Factor Xi Deficiency

NIH Rare Diseases : 53 Factor XI deficiency is a bleeding disorder that interferes with the body's clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood. Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent. Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. In most cases the condition is inherited in an autosomal recessive manner however, it may follow an autosomal dominant pattern in some families. Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries.

MalaCards based summary : Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to hemophilia and von willebrand's disease. An important gene associated with Factor Xi Deficiency is F11 (Coagulation Factor XI), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Acetylcholine and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include liver, colon and lung, and related phenotypes are abnormal bleeding and gastrointestinal hemorrhage

Genetics Home Reference : 25 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.

OMIM : 57 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). (612416)

UniProtKB/Swiss-Prot : 75 Factor XI deficiency: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate.

Wikipedia : 76 Factor XI or plasma thromboplastin antecedent is the zymogen form of factor XIa, one of the enzymes of... more...

Related Diseases for Factor Xi Deficiency

Diseases related to Factor Xi Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.2 F2 F3 F9
2 von willebrand's disease 30.0 F11 F2 F3 F9
3 factor viii deficiency 30.0 F11 F2
4 thrombasthenia 30.0 F2 F3
5 glanzmann thrombasthenia 29.8 F2 F3 F9
6 pulmonary embolism 29.7 F2 F3 F9 SERPINC1
7 thrombosis 29.6 F2 F3 F9 SERPINC1 THBD
8 myocardial infarction 29.4 F11 F2 F3 SERPINC1 THBD
9 antiphospholipid syndrome 29.4 F2 F3 SERPINC1 THBD
10 factor xii deficiency 29.2 F12 F3 F9 SERPINC1
11 thrombophilia 29.0 F11 F2 F3 F9 SERPINC1 THBD
12 melkersson-rosenthal syndrome 12.7
13 orofacial granulomatosis 11.4
14 cheilitis 10.5
15 crohn's disease 10.3
16 acquired von willebrand syndrome 10.2 F11 F9
17 lemierre's syndrome 10.2 F11 F3
18 cerebral falx meningioma 10.1 F2 F3
19 prothrombin deficiency 10.1 F2 F3
20 cerebral sinovenous thrombosis 10.1 F2 F3
21 cardiac tamponade 10.1 F2 F9
22 qualitative platelet defect 10.1 F2 F3
23 femoral neuropathy 10.1 F2 F3
24 hantavirus pulmonary syndrome 10.1 F2 F3
25 von willebrand disease, type 1 10.1 F2 F3
26 anterior cranial fossa meningioma 10.1 F2 F3
27 splenic disease 10.1 F2 F3
28 von willebrand disease, type 3 10.1 F11 F3
29 endocardium disease 10.1 F2 F3
30 xeroderma pigmentosum, variant type 10.1
31 alpha-1-antitrypsin deficiency 10.1
32 pulmonary hypertension 10.1
33 chronic thromboembolic pulmonary hypertension 10.1 CPB2 F2
34 factor xiii deficiency 10.1 CPB2 F3
35 endocarditis 10.1 F2 SERPINC1
36 analbuminemia 10.1 F2 F3
37 squamous cell papilloma 10.1 F2 F3
38 heparin-induced thrombocytopenia 10.1 F3 SERPINC1
39 grange syndrome 10.1 F3 THBD
40 congenital disorder of glycosylation, type ia 10.1 F9 SERPINC1
41 hemarthrosis 10.1
42 acquired hemophilia 10.1 F11 F3 F9
43 acquired hemophilia a 10.1 F11 F3 F9
44 spinal cord infarction 10.1 F2 SERPINC1
45 hemophilia a 10.1 F11 F3 F9
46 alpha-2-plasmin inhibitor deficiency 10.1 F2 SERPINC1
47 prothrombin deficiency, congenital 10.1 F2 SERPINC1
48 spotted fever 10.1 F2 THBD
49 ischemic colitis 10.1 F2 SERPINC1
50 subendocardial myocardial infarction 10.1 F2 SERPINC1

Graphical network of the top 20 diseases related to Factor Xi Deficiency:



Diseases related to Factor Xi Deficiency

Symptoms & Phenotypes for Factor Xi Deficiency

Clinical features from OMIM:

612416

Human phenotypes related to Factor Xi Deficiency:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal bleeding 59 32 Very frequent (99-80%) HP:0001892
2 gastrointestinal hemorrhage 59 32 very rare (1%) Very rare (<4-1%) HP:0002239
3 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
4 menorrhagia 59 32 frequent (33%) Frequent (79-30%) HP:0000132
5 prolonged partial thromboplastin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003645
6 joint hemorrhage 59 32 very rare (1%) Very rare (<4-1%) HP:0005261
7 reduced factor xi activity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001929
8 prolonged bleeding after dental extraction 59 32 hallmark (90%) Very frequent (99-80%) HP:0006298
9 abnormality of the intrinsic pathway 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Factor Xi Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.92 CPB2 F11 F12 F2 F3 F9
2 cardiovascular system MP:0005385 9.91 F11 F2 F3 F9 SERPINC1 THBD
3 hematopoietic system MP:0005397 9.85 F11 F2 F3 F9 SERPINC1 THBD
4 embryo MP:0005380 9.8 F2 F3 F9 SERPINC1 THBD
5 immune system MP:0005387 9.8 CPB2 F11 F2 F3 F9 SERPINC1
6 mortality/aging MP:0010768 9.7 CPB2 F11 F2 F3 F9 SERPINC1
7 nervous system MP:0003631 9.43 F11 F12 F2 F3 SERPINC1 THBD
8 respiratory system MP:0005388 9.02 CPB2 F11 F2 F3 THBD

Drugs & Therapeutics for Factor Xi Deficiency

Drugs for Factor Xi Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 239)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4 51-84-3 187
2
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
3
Acamprosate Approved, Investigational Phase 4 77337-76-9 71158
4
Ethanol Approved Phase 4,Not Applicable 64-17-5 702
5
Piperaquine Experimental, Investigational Phase 4 4085-31-8 5079497
6
Dihydroartemisinin Experimental, Investigational Phase 4 71939-50-9 6918483
7 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Not Applicable
9 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
10 abobotulinumtoxinA Phase 4
11 onabotulinumtoxinA Phase 4
12 Cholinergic Agents Phase 4,Not Applicable
13 Botulinum Toxins Phase 4
14 Botulinum Toxins, Type A Phase 4
15 Acetylcholine Release Inhibitors Phase 4
16 Neuromuscular Agents Phase 4
17 Analgesics Phase 4,Not Applicable
18 Antipyretics Phase 4,Not Applicable
19 Anti-Inflammatory Agents, Non-Steroidal Phase 4,Not Applicable
20 Fibrinolytic Agents Phase 4
21 Analgesics, Non-Narcotic Phase 4,Not Applicable
22 Anti-Inflammatory Agents Phase 4,Phase 3,Not Applicable
23 Cyclooxygenase Inhibitors Phase 4
24 Antirheumatic Agents Phase 4,Phase 1,Early Phase 1,Not Applicable
25 Platelet Aggregation Inhibitors Phase 4
26 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 Antiparasitic Agents Phase 4,Phase 3
28 Antimalarials Phase 4,Phase 3
29 Antiprotozoal Agents Phase 4,Phase 3
30 Artemisinine Phase 4,Phase 3
31 Artemisinins Phase 4,Phase 3
32
Amodiaquine Approved, Investigational Phase 3 86-42-0 2165
33
Pyrimethamine Approved, Investigational, Vet_approved Phase 3 58-14-0 4993
34
Artemether Approved Phase 3 71963-77-4 119380 68911
35
leucovorin Approved Phase 3,Phase 2 58-05-9 6006 143
36
Sulfadoxine Approved, Investigational Phase 3 2447-57-6 17134
37
Artesunate Approved, Investigational Phase 3 88495-63-0 5464098 6917864
38
Lumefantrine Approved Phase 3 82186-77-4 6437380
39
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Not Applicable 22916-47-8 4189
40
Cisplatin Approved Phase 3,Phase 2 15663-27-1 2767 441203 84093
41
Sage Approved Phase 3
42
Cetuximab Approved Phase 3,Phase 1,Phase 2 205923-56-4 56842117 2333
43
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
44
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
45
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
46
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
47
Povidone Approved Phase 3 9003-39-8
48
Iodine Approved, Investigational Phase 3 7553-56-2 807
49
Povidone-iodine Approved Phase 3 25655-41-8
50
Bevacizumab Approved, Investigational Phase 3,Phase 2 216974-75-3

Interventional clinical trials:

(show top 50) (show all 105)
# Name Status NCT ID Phase Drugs
1 Efficacy Study of Botox for Depression Unknown status NCT01556971 Phase 4 Botox;Saline Solution
2 Does Discontinuation of Aspirin Treatment Following Head Trauma Decrease the Incidence of Chronic Subdural Hematoma? Unknown status NCT01470040 Phase 4 discontinuation of aspirin therapy;continuation of aspirin therapy
3 Acamprosate in Alcoholics With Comorbid Anxiety or Depression Completed NCT00330174 Phase 4 Acamprosate
4 Pharmacokinetics of Dihydroartemisinin-Piperaquine in the Treatment of Uncomplicated Malaria in Children in Burkina Faso Completed NCT00845533 Phase 4 Dihydroartemisinin-Piperaquine
5 Longitudinal Antimalarial Combinations in Uganda Completed NCT00123552 Phase 3 Amodiaquine+Artesunate;Amodiaquine+Sulfadoxine/Pyrimethamine;Artemether+Lumefantrine
6 Palifermin in Lessening Oral Mucositis in Patients Undergoing Radiation Therapy and Chemotherapy for Locally Advanced Head and Neck Cancer Terminated NCT00360971 Phase 3 cisplatin
7 Randomized Controlled Trial of Enhanced Pharmacy Care in Older Veteran Outpatients Completed NCT00122122 Phase 3
8 A Study With SAGE-547 for Super-Refractory Status Epilepticus Completed NCT02477618 Phase 3 SAGE-547;Placebo
9 Radiation Therapy and Cisplatin With or Without Cetuximab in Treating Patients With Stage III or Stage IV Head and Neck Cancer Active, not recruiting NCT00265941 Phase 3 cetuximab;cisplatin
10 Artisan Aphakia Lens for the Correction of Aphakia (Secondary) in Adults Recruiting NCT01547429 Phase 3
11 Artisan Aphakia Lens for the Correction of Aphakia in Children Recruiting NCT01547442 Phase 3
12 Hormone Therapy and Radiation Therapy or Hormone Therapy and Radiation Therapy Followed by Docetaxel and Prednisone in Treating Patients With Localized Prostate Cancer Active, not recruiting NCT00288080 Phase 3 Dexamethasone;Prednisone;docetaxel;Oral antiandrogen;LHRH agonist
13 PROMINENT-Eye Ancillary Study (Protocol AD) Recruiting NCT03345901 Phase 3 Pemafibrate;Placebo
14 DRCR.Net Aflibercept vs. Bevacizumab + Deferred Aflibercept for the Treatment of CI-DME Recruiting NCT03321513 Phase 3 intravitreous aflibercept;Bevacizumab + Deferred Aflibercept Group
15 Anti-VEGF vs. Prompt Vitrectomy for VH From PDR Recruiting NCT02858076 Phase 2, Phase 3 2-mg Intravitreous Aflibercept Injection
16 Treatment for CI-DME in Eyes With Very Good VA Study Recruiting NCT01909791 Phase 3 Prompt aflibercept;Deferred aflibercept
17 Tacrolimus/Everolimus vs. Tacrolimus/MMF in Pediatric Heart Transplant Recipients Using the MATE Score Recruiting NCT03386539 Phase 3 Everolimus;Tacrolimus;Mycophenolate Mofetil
18 The Effect of Single Dose D-Cycloserine on Cognitive Outcome in Moderate Traumatic Brain Injury (TBI) Patients Unknown status NCT01343862 Phase 2 D-cycloserine;placebo
19 Caphosol for the Reduction of Mucositis in Patients Receiving Radiation Therapy for Head and Neck Cancer Unknown status NCT00901732 Phase 1, Phase 2
20 Panitumumab-IRDye800 Compared to Sentinel Node Biopsy and (Selective) Neck Dissection in Identifying Metastatic Lymph Nodes in Patients With Head and Neck Cancer Not yet recruiting NCT03405142 Phase 2 Panitumumab-IRDye800
21 Panitumumab-IRDye800 in Patients With Pancreatic Cancer Undergoing Surgery Recruiting NCT03384238 Phase 1, Phase 2 Panitumumab-IRDye800
22 Cetuximab-IRDye 800CW in Detecting Tumors in Patients With Malignant Glioma Undergoing Surgery Terminated NCT02855086 Phase 1, Phase 2 Cetuximab-IRDye 800CW
23 Panitumumab-IRDye800 in Detecting Cancer in Participants With Lung Cancer During Surgery Recruiting NCT03582124 Phase 1, Phase 2 Panitumumab-IRDye800
24 Panitumumab-IRDye800 in Diagnosing Participants With Malignant Glioma Undergoing Surgery Recruiting NCT03510208 Phase 1, Phase 2 Panitumumab-IRDye800
25 Cetuximab-IRDye 800CW and Intraoperative Imaging in Finding Pancreatic Cancer in Patients Undergoing Surgery Terminated NCT02736578 Phase 2 Cetuximab-IRDye800;Cetuximab
26 UAB 0718 - Phase II Trial to Assess Target Oral Therapy as Adjuvant Chemoprevention in High-Risk Head and Neck Cancer Completed NCT00570232 Phase 2 Erlotinib
27 A Trial of Erlotinib + Radiotherapy for Cutaneous Squamous Cell Carcinoma Completed NCT00369512 Phase 2 Erlotinib
28 Effects of Black Cohosh on Menopausal Hot Flashes Completed NCT00010712 Phase 2 Black Cohosh
29 Helical Tomotherapy, Fludarabine Phosphate, and Melphalan Followed By Donor Stem Cell Transplant in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00544466 Phase 1, Phase 2 fludarabine phosphate;melphalan
30 Symptom Burden in Head and Neck Cancer Terminated NCT01219673 Phase 1, Phase 2 Armodafinil;Minocycline;Bupropion
31 Chemotherapy, Surgery, and Radiation Therapy in Treating Patients With Gastric Cancer Completed NCT00003298 Phase 2 cisplatin;fluorouracil;leucovorin calcium;paclitaxel
32 Acupuncture to Improve Quality of Life in Patients With Advanced Cancer Completed NCT00070967 Phase 2
33 Pilot Study to Assess Efficacy and Safety of Sofosbuvir/Ledipasvir Fixed-dose Combination in Treatment Experienced Subjects With Hepatitis C Virus (HCV) Genotype 1 - HIV Co-infection Completed NCT02125500 Phase 2 Sofosbuvir/Ledipasvir fixed dose
34 Crux Biomedical IVC Filter - Evaluation of the Crux Inferior Vena Cava Filter System (Retrieve) Completed NCT00605332 Phase 2
35 Vocal-cord vs. Complete Laryngeal Radiotherapy for Early Glottic Cancer Recruiting NCT03759431 Phase 2
36 Losartan for the Treatment of Pediatric NAFLD Recruiting NCT03467217 Phase 2 Losartan potassium;Placebo losartan capsule
37 Panitumumab-IRDye800 and 89Zr-Panitumumab in Identifying Metastatic Lymph Nodes in Patients With Squamous Cell Head and Neck Cancer Recruiting NCT03733210 Phase 1 Panitumumab-IRDye800;Zirconium Zr-89 Panitumumab
38 Phase I Panitumumab IRDye800 Optical Imaging Study Recruiting NCT02415881 Phase 1 Panitumumab IRDye 800
39 Cetuximab IRDye800 Study as an Optical Imaging Agent to Detect Cancer During Surgical Procedures Terminated NCT01987375 Phase 1 Cetuximab-IRDye800
40 Safety of Blood Stem Cell Mobilization With Plerixafor in Patients With Sickle Cell Disease Recruiting NCT03664830 Phase 1 Plerixafor
41 A Blood Stem Cell Transplant for Sickle Cell Disease Recruiting NCT03249831 Phase 1 Cyclophosphamide;Pentostatin;Rabbit anti-thymocyte globulin;Tacrolimus;Mycophenolate mofetil
42 Blinatumomab Plus HLA-Mismatched Cellular Therapy for Relapsed/Refractory CD19+ ALL Not yet recruiting NCT03751709 Phase 1 Blinatumomab
43 Haploidentical Stem Cell Transplant With Prophylactic Natural Killer DLI for Lymphoma, Multiple Myeloma, and CLL Recruiting NCT03524235 Phase 1 Bendamustine;Fludarabine;Rituximab
44 Total Marrow and Lymphoid Irradiation and Chemotherapy Before Donor Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Leukemia Active, not recruiting NCT02446964 Phase 1 Cyclophosphamide;Fludarabine Phosphate;Mycophenolate Mofetil;Tacrolimus
45 Safety Study of Adenovirus/PNP Coupled With Fludarabine Phosphate to Treat Solid Tumors Completed NCT01310179 Phase 1
46 Total Marrow and Total Lymph Node Irradiation, Fludarabine, and Melphalan Followed By Donor Stem Cell Transplant in Treating Patients With Advanced Hematological Cancer That Has Not Responded to Treatment Terminated NCT00800150 Phase 1 fludarabine phosphate;melphalan
47 The Effects of Antihistamines on Pre-Pulse Inhibition Completed NCT01537471 Phase 1 Placebo;Meclizine;Meclizine
48 Safety Study of BTK Inhibitor, DTRMWXHS-12, Used Singly or in Combination, in CLL and B-cell Lymphomas Recruiting NCT02900716 Phase 1 DTRMWXHS-12;DTRM-505;DTRM-555
49 A Single and Low Dose of Recombinant Factor VIIa in Patients With Severe Factor XI Deficiency Undergoing Surgery Unknown status NCT01538160 Not Applicable recombinant factor VIIa
50 The Proteins of the Contact Activation System Unknown status NCT02785718 Not Applicable

Search NIH Clinical Center for Factor Xi Deficiency

Cochrane evidence based reviews: factor xi deficiency

Genetic Tests for Factor Xi Deficiency

Genetic tests related to Factor Xi Deficiency:

# Genetic test Affiliating Genes
1 Hereditary Factor Xi Deficiency Disease 29 F11

Anatomical Context for Factor Xi Deficiency

MalaCards organs/tissues related to Factor Xi Deficiency:

41
Liver, Colon, Lung, Heart, Thyroid, Spinal Cord, Placenta

Publications for Factor Xi Deficiency

Articles related to Factor Xi Deficiency:

(show top 50) (show all 343)
# Title Authors Year
1
Severe Ankle Arthritis After Multiple Hemarthrosis Secondary to Factor XI Deficiency: A Case Report. ( 29891129 )
2018
2
Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency. ( 29713955 )
2018
3
Perioperative management of a redo aortic root replacement in a patient with severe factor XI deficiency. ( 29399875 )
2018
4
Factor XI Deficiency and Pregnancy: Abnormal Lab Values or Significant Risk? ( 29912049 )
2018
5
A novel mutation (Tyr503Cys) in a severe factor XI deficiency. ( 29538003 )
2018
6
Management of Severe Factor XI Deficiency with Factor XI Concentrate to Facilitate Prolonged Use of a Thoracic Epidural Catheter. ( 29917113 )
2018
7
Successful perioperative management in a patient with factor XI deficiency. ( 29467123 )
2018
8
Factor XI deficiency is not associated with an increased risk of pneumonia and pneumonia-related mortality. ( 29608015 )
2018
9
Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency. ( 29367083 )
2018
10
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families. ( 27723456 )
2018
11
Abnormal plasma clot formation and fibrinolysis reveal bleeding tendency in patients with partial factor XI deficiency. ( 29760205 )
2018
12
Factor XI Deficiency: The Key Is Individualization. ( 30320643 )
2018
13
Comments on 'Management of parturients with Factor XI deficiency - 10 year case series and review of the literature'. ( 28890278 )
2017
14
Total hip arthroplasty via the direct anterior approach with Kerboull-type acetabular reinforcement device for an elderly female with factor XI deficiency. ( 28186870 )
2017
15
Molecular investigation of 41 patients affected by coagulation factor XI deficiency. ( 29178608 )
2017
16
Three Factor11 Mutations Associated With Factor XI Deficiency In A Turkish Family. ( 28947414 )
2017
17
Spinal Anaesthesia for Caesarean Delivery in a Parturient with Partial Factor XI Deficiency. ( 28377844 )
2017
18
Factor XI deficiency is associated with lower risk for cardiovascular and venous thromboembolism events. ( 28039189 )
2017
19
Normal aPTT in children with mild factor XI deficiency. ( 29230938 )
2017
20
Therapeutic plasma exchange for perioperative management of patients with congenital factor XI deficiency. ( 28295573 )
2017
21
Acquired factor XI deficiency and therapeutic plasma exchange. ( 29027258 )
2017
22
Evaluation of the use of global haemostasis assays to monitor treatment in factor XI deficiency. ( 27862691 )
2017
23
Exploring the global landscape of genetic variation in coagulation factor XI deficiency. ( 28615222 )
2017
24
Management of parturients with Factor XI deficiency-10year case series and review of literature. ( 28622635 )
2017
25
Factor XI deficiency enhances the pulmonary allergic response to house dust mite in mice independent of factor XII. ( 27913422 )
2017
26
Management of severe factor XI deficiency in cardiac surgery: A case report and review of the literature. ( 28857368 )
2017
27
Successful Peritoneal Dialysis Catheter Placement in a New End-Stage Renal Disease Patient with Combined Antiphospholipid Syndrome and Factor XI Deficiency. ( 29668426 )
2017
28
Factor XI deficiency and aortic valve replacement: Perioperative management. ( 27091826 )
2017
29
The safety of chronic antithrombotic therapy in patients with factor XI deficiency. ( 27392111 )
2017
30
Factor XI deficiency as a result of a novel Tyr347Stop nonsense mutation in an elderly Japanese woman. ( 28635111 )
2017
31
Increased time for homeostasis in hemodialysis. Factor XI deficiency (hemophilia C): Report of a case. ( 28734585 )
2017
32
Reduced fibrinolytic resistance in patients with factor XI deficiency. Evidence of a thrombin-independent impairment of the thrombin-activatable fibrinolysis inhibitor pathway. ( 27094709 )
2016
33
The Management of Factor XI Deficiency in Pregnancy. ( 27699729 )
2016
34
Clinical and molecular epidemiology of factor XI deficiency in India. ( 27710856 )
2016
35
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. ( 27067486 )
2016
36
Combined high molecular weight Kininogen and factor XI deficiency. ( 26572243 )
2016
37
Gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review. ( 26634881 )
2016
38
Preoperative management of factor XI deficiency with therapeutic plasma exchange: A case report and literature review. ( 26683249 )
2016
39
Factor XI Deficiency Protects Against Atherogenesis in Apolipoprotein E/Factor XI Double Knockout Mice. ( 26800563 )
2016
40
Novel identification of Factor XI deficiency in Indian Sahiwal (Bos indicus) cattle. ( 26892783 )
2016
41
Successful perioperative management of factor XI deficiency with administration of fresh-frozen plasma in a subdural hematoma patient. ( 26974602 )
2016
42
Factor XI Deficiency Alters the Cytokine Response and Activation of Contact Proteases during Polymicrobial Sepsis in Mice. ( 27046148 )
2016
43
Why factor XI deficiency is a clinical concern. ( 27216469 )
2016
44
Is resistance futile? The role of activated thrombin-activatable fibrinolysis inhibitor resistance in bleeding in factor XI deficiency. ( 27279430 )
2016
45
Anaesthesia Management of a Patient with Factor XI Deficiency. ( 27366578 )
2016
46
Gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review: response to rebuttal. ( 27481127 )
2016
47
Response to Wiewel-Verschueren S et al.: gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review. ( 27486008 )
2016
48
Anesthetic management using peripheral nerve block in patients with factor XI deficiency: a case report. ( 29497672 )
2016
49
A novel c.290G&amp;gt;A mutation in the Factor 11 gene in a Dutch Caucasian family with a Factor XI deficiency. ( 25618263 )
2015
50
The role of rotational thromboelastometry in assessment of haemostasis during pregnancy in women with factor XI deficiency. ( 26538512 )
2015

Variations for Factor Xi Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Factor Xi Deficiency:

75 (show top 50) (show all 58)
# Symbol AA change Variation ID SNP ID
1 F11 p.Phe301Leu VAR_006622 rs121965064
2 F11 p.Asp34His VAR_012085 rs281875267
3 F11 p.Trp246Cys VAR_012086 rs281875279
4 F11 p.Ser266Asn VAR_012087 rs145168351
5 F11 p.Leu320Pro VAR_012088 rs281875268
6 F11 p.Thr322Ile VAR_012089 rs281875269
7 F11 p.Arg326Cys VAR_012090 rs28934608
8 F11 p.Glu341Lys VAR_012091 rs281875270
9 F11 p.Thr404Asn VAR_012092 rs121965067
10 F11 p.Ala430Val VAR_012093 rs121965068
11 F11 p.Phe460Val VAR_012094 rs121965065
12 F11 p.Thr493Ile VAR_012095
13 F11 p.Ser594Arg VAR_012096 rs28934609
14 F11 p.Cys46Phe VAR_054894 rs281875271
15 F11 p.Cys56Arg VAR_054895 rs121965069
16 F11 p.Lys101Arg VAR_054896 rs281875272
17 F11 p.Tyr151Cys VAR_054897 rs281875273
18 F11 p.Cys255Tyr VAR_054898 rs281875277
19 F11 p.Gly263Glu VAR_054899 rs281875274
20 F11 p.Lys270Ile VAR_054900 rs121965070
21 F11 p.Gly418Val VAR_054901 rs121965071
22 F11 p.Tyr511His VAR_054902 rs281875278
23 F11 p.Pro538Leu VAR_054903 rs139695003
24 F11 p.Glu565Lys VAR_054904 rs281875275
25 F11 p.Trp587Ser VAR_054905 rs121965072
26 F11 p.Ile618Ser VAR_054906 rs281875276
27 F11 p.Gly32Arg VAR_067929 rs281875259
28 F11 p.Ala43Thr VAR_067930 rs281875264
29 F11 p.Thr51Ile VAR_067931 rs281875252
30 F11 p.Thr51Pro VAR_067932 rs281875243
31 F11 p.His53Gln VAR_067933 rs281875261
32 F11 p.Ala63Val VAR_067934 rs281875244
33 F11 p.Cys140Tyr VAR_067935 rs281875256
34 F11 p.Asp222Tyr VAR_067936 rs281875245
35 F11 p.Arg228Gln VAR_067937 rs281875246
36 F11 p.Phe241Leu VAR_067938 rs281875265
37 F11 p.Arg252Thr VAR_067939 rs281875260
38 F11 p.Ser276Cys VAR_067940 rs281875247
39 F11 p.Gly277Asp VAR_067941 rs281875248
40 F11 p.Glu315Lys VAR_067942 rs281875257
41 F11 p.Thr331Ile VAR_067943 rs281875253
42 F11 p.Leu360Pro VAR_067944 rs281875254
43 F11 p.Trp401Arg VAR_067945 rs281875262
44 F11 p.Val403Met VAR_067946 rs281875266
45 F11 p.Ile454Lys VAR_067947 rs281875241
46 F11 p.Ile481Ser VAR_067948 rs281875242
47 F11 p.Ser503Pro VAR_067949 rs140068026
48 F11 p.Asp506Gly VAR_067950 rs281875258
49 F11 p.Cys514Phe VAR_067951 rs281875249
50 F11 p.Asp526Glu VAR_067952 rs281875263

ClinVar genetic disease variations for Factor Xi Deficiency:

6 (show top 50) (show all 283)
# Gene Variation Type Significance SNP ID Assembly Location
1 F11 NM_000128.3(F11): c.1716+1G> A single nucleotide variant Pathogenic rs373297713 GRCh37 Chromosome 4, 187208978: 187208978
2 F11 NM_000128.3(F11): c.1716+1G> A single nucleotide variant Pathogenic rs373297713 GRCh38 Chromosome 4, 186287824: 186287824
3 F11 NM_000128.3(F11): c.403G> T (p.Glu135Ter) single nucleotide variant Pathogenic rs121965063 GRCh37 Chromosome 4, 187195347: 187195347
4 F11 NM_000128.3(F11): c.403G> T (p.Glu135Ter) single nucleotide variant Pathogenic rs121965063 GRCh38 Chromosome 4, 186274193: 186274193
5 F11 NM_000128.3(F11): c.901T> C (p.Phe301Leu) single nucleotide variant Pathogenic rs121965064 GRCh37 Chromosome 4, 187201412: 187201412
6 F11 NM_000128.3(F11): c.901T> C (p.Phe301Leu) single nucleotide variant Pathogenic rs121965064 GRCh38 Chromosome 4, 186280258: 186280258
7 F11 F11, IVS9AS, A-G, -2 single nucleotide variant Pathogenic
8 F11 F11, IVS5DS, G-C, +5 single nucleotide variant Pathogenic
9 F11 NM_000128.3(F11): c.1378T> G (p.Phe460Val) single nucleotide variant Pathogenic rs121965065 GRCh37 Chromosome 4, 187206865: 187206865
10 F11 NM_000128.3(F11): c.1378T> G (p.Phe460Val) single nucleotide variant Pathogenic rs121965065 GRCh38 Chromosome 4, 186285711: 186285711
11 F11 NM_000128.3(F11): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic rs121965066 GRCh37 Chromosome 4, 187195382: 187195382
12 F11 NM_000128.3(F11): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic rs121965066 GRCh38 Chromosome 4, 186274228: 186274228
13 F11 NM_000128.3(F11): c.1211C> A (p.Thr404Asn) single nucleotide variant Pathogenic rs121965067 GRCh37 Chromosome 4, 187205321: 187205321
14 F11 NM_000128.3(F11): c.1211C> A (p.Thr404Asn) single nucleotide variant Pathogenic rs121965067 GRCh38 Chromosome 4, 186284167: 186284167
15 F11 NM_000128.3(F11): c.976C> T (p.Arg326Cys) single nucleotide variant Pathogenic rs28934608 GRCh37 Chromosome 4, 187201487: 187201487
16 F11 NM_000128.3(F11): c.976C> T (p.Arg326Cys) single nucleotide variant Pathogenic rs28934608 GRCh38 Chromosome 4, 186280333: 186280333
17 F11 NM_000128.3(F11): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs121965068 GRCh37 Chromosome 4, 187205399: 187205399
18 F11 NM_000128.3(F11): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs121965068 GRCh38 Chromosome 4, 186284245: 186284245
19 F11 NM_000128.3(F11): c.1782C> A (p.Ser594Arg) single nucleotide variant Pathogenic rs28934609 GRCh37 Chromosome 4, 187209672: 187209672
20 F11 NM_000128.3(F11): c.1782C> A (p.Ser594Arg) single nucleotide variant Pathogenic rs28934609 GRCh38 Chromosome 4, 186288518: 186288518
21 F11 NM_000128.3(F11): c.166T> C (p.Cys56Arg) single nucleotide variant Likely pathogenic rs121965069 GRCh37 Chromosome 4, 187192873: 187192873
22 F11 NM_000128.3(F11): c.166T> C (p.Cys56Arg) single nucleotide variant Likely pathogenic rs121965069 GRCh38 Chromosome 4, 186271719: 186271719
23 F11 NM_000128.3(F11): c.809A> T (p.Lys270Ile) single nucleotide variant Uncertain significance rs121965070 GRCh37 Chromosome 4, 187201219: 187201219
24 F11 NM_000128.3(F11): c.809A> T (p.Lys270Ile) single nucleotide variant Uncertain significance rs121965070 GRCh38 Chromosome 4, 186280065: 186280065
25 F11 NM_000128.3(F11): c.1253G> T (p.Gly418Val) single nucleotide variant Likely pathogenic rs121965071 GRCh37 Chromosome 4, 187205363: 187205363
26 F11 NM_000128.3(F11): c.1253G> T (p.Gly418Val) single nucleotide variant Likely pathogenic rs121965071 GRCh38 Chromosome 4, 186284209: 186284209
27 F11 NM_000128.3(F11): c.1760G> C (p.Trp587Ser) single nucleotide variant Pathogenic rs121965072 GRCh37 Chromosome 4, 187209650: 187209650
28 F11 NM_000128.3(F11): c.1760G> C (p.Trp587Ser) single nucleotide variant Pathogenic rs121965072 GRCh38 Chromosome 4, 186288496: 186288496
29 F11 F11, DEL deletion Pathogenic
30 F11 NM_000128.3(F11): c.1517A> G (p.Asp506Gly) single nucleotide variant Uncertain significance rs281875258 GRCh37 Chromosome 4, 187207605: 187207605
31 F11 NM_000128.3(F11): c.1517A> G (p.Asp506Gly) single nucleotide variant Uncertain significance rs281875258 GRCh38 Chromosome 4, 186286451: 186286451
32 F11 NM_000128.3(F11): c.1693G> A (p.Glu565Lys) single nucleotide variant Likely pathogenic rs281875275 GRCh37 Chromosome 4, 187208954: 187208954
33 F11 NM_000128.3(F11): c.1693G> A (p.Glu565Lys) single nucleotide variant Likely pathogenic rs281875275 GRCh38 Chromosome 4, 186287800: 186287800
34 F11 NM_000128.3(F11): c.1724C> T (p.Ser575Leu) single nucleotide variant Likely pathogenic rs281875250 GRCh37 Chromosome 4, 187209614: 187209614
35 F11 NM_000128.3(F11): c.1724C> T (p.Ser575Leu) single nucleotide variant Likely pathogenic rs281875250 GRCh38 Chromosome 4, 186288460: 186288460
36 F11 NM_000128.3(F11): c.1789G> A (p.Glu597Lys) single nucleotide variant Uncertain significance rs281875251 GRCh37 Chromosome 4, 187209679: 187209679
37 F11 NM_000128.3(F11): c.1789G> A (p.Glu597Lys) single nucleotide variant Uncertain significance rs281875251 GRCh38 Chromosome 4, 186288525: 186288525
38 F11 NM_000128.3(F11): c.188C> T (p.Ala63Val) single nucleotide variant Uncertain significance rs281875244 GRCh37 Chromosome 4, 187192895: 187192895
39 F11 NM_000128.3(F11): c.188C> T (p.Ala63Val) single nucleotide variant Uncertain significance rs281875244 GRCh38 Chromosome 4, 186271741: 186271741
40 F11 NM_000128.3(F11): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs281875272 GRCh37 Chromosome 4, 187194308: 187194308
41 F11 NM_000128.3(F11): c.302A> G (p.Lys101Arg) single nucleotide variant Uncertain significance rs281875272 GRCh38 Chromosome 4, 186273154: 186273154
42 F11 NM_000128.3(F11): c.683G> A (p.Arg228Gln) single nucleotide variant Uncertain significance rs281875246 GRCh37 Chromosome 4, 187197472: 187197472
43 F11 NM_000128.3(F11): c.683G> A (p.Arg228Gln) single nucleotide variant Uncertain significance rs281875246 GRCh38 Chromosome 4, 186276318: 186276318
44 F11 NM_000128.3(F11): c.723C> G (p.Phe241Leu) single nucleotide variant Uncertain significance rs281875265 GRCh37 Chromosome 4, 187197512: 187197512
45 F11 NM_000128.3(F11): c.723C> G (p.Phe241Leu) single nucleotide variant Uncertain significance rs281875265 GRCh38 Chromosome 4, 186276358: 186276358
46 F11 NM_000128.3(F11): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768409400 GRCh37 Chromosome 4, 187192774: 187192774
47 F11 NM_000128.3(F11): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768409400 GRCh38 Chromosome 4, 186271620: 186271620
48 F11 NM_000128.3(F11): c.325G> A (p.Ala109Thr) single nucleotide variant Likely pathogenic rs768474112 GRCh37 Chromosome 4, 187194331: 187194331
49 F11 NM_000128.3(F11): c.325G> A (p.Ala109Thr) single nucleotide variant Likely pathogenic rs768474112 GRCh38 Chromosome 4, 186273177: 186273177
50 F11 NM_000128.3(F11): c.400C> T (p.Gln134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs756908183 GRCh37 Chromosome 4, 187195344: 187195344

Expression for Factor Xi Deficiency

Search GEO for disease gene expression data for Factor Xi Deficiency.

Pathways for Factor Xi Deficiency

Pathways related to Factor Xi Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Factor Xi Deficiency

Cellular components related to Factor Xi Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 F11 F12 F2 F3 F9 SERPINC1
2 extracellular exosome GO:0070062 9.63 CPB2 F11 F12 F2 F9 SERPINC1
3 endoplasmic reticulum lumen GO:0005788 9.5 F2 F9 SERPINC1
4 extracellular region GO:0005576 9.5 CPB2 F11 F12 F2 F3 F9
5 extracellular space GO:0005615 9.23 CPB2 F11 F12 F2 F3 F9

Biological processes related to Factor Xi Deficiency according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.83 CPB2 F11 F12 F2 F9
2 blood coagulation, intrinsic pathway GO:0007597 9.56 F11 F12 F2 F9
3 blood coagulation GO:0007596 9.56 CPB2 F11 F12 F2 F3 F9
4 fibrinolysis GO:0042730 9.54 CPB2 F12 F2
5 protein processing GO:0016485 9.51 F12 F3
6 negative regulation of fibrinolysis GO:0051918 9.5 CPB2 F2 THBD
7 zymogen activation GO:0031638 9.49 F12 F9
8 positive regulation of blood coagulation GO:0030194 9.48 F12 F2
9 negative regulation of platelet activation GO:0010544 9.46 F2 THBD
10 regulation of blood coagulation GO:0030193 9.46 F11 F12 F2 SERPINC1
11 positive regulation of fibrinolysis GO:0051919 9.4 F11 F12
12 hemostasis GO:0007599 9.23 CPB2 F11 F12 F2 F3 F9

Molecular functions related to Factor Xi Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.77 CPB2 F11 F12 F2 F9
2 calcium ion binding GO:0005509 9.62 F12 F2 F9 THBD
3 peptidase activity GO:0008233 9.55 CPB2 F11 F12 F2 F9
4 heparin binding GO:0008201 9.43 F11 F2 SERPINC1
5 serine-type peptidase activity GO:0008236 9.26 F11 F12 F2 F9
6 serine-type endopeptidase activity GO:0004252 9.02 F11 F12 F2 F3 F9

Sources for Factor Xi Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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