FA11D
MCID: FCT002
MIFTS: 61

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 20 43 72 36 54 44 15 70
Plasma Thromboplastin Antecedent Deficiency 57 12 20 43 58 72
Rosenthal Syndrome 57 20 43 58 72
Pta Deficiency 57 20 43 58 72
Hemophilia C 12 20 43 58 72
Rosenthal Factor Deficiency 20 43 58 72
F11 Deficiency 57 20 43 72
Hereditary Factor Xi Deficiency Disease 12 29 6
Congenital Factor Xi Deficiency 12 20 58
Factor Xi Deficiency, Autosomal Dominant 57 13
Factor 11 Deficiency 43 72
Rosenthal's Disease 12 43
Factor Xi Deficiency, Autosomal Recessive 57
Factor Xi Deficiency, Congenital 73
Deficiency, Factor Xi 39
Haemophilia C 43
Factor Xi 6
Fa11d 72

Characteristics:

Orphanet epidemiological data:

58
congenital factor xi deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

31

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2229
OMIM® 57 612416
KEGG 36 H00938
ICD9CM 34 286.2
MeSH 44 D005173
NCIt 50 C84705
SNOMED-CT 67 49762007
ICD10 32 D68.1
ICD10 via Orphanet 33 D68.1
UMLS via Orphanet 71 C0015523
Orphanet 58 ORPHA329
MedGen 41 C0015523
UMLS 70 C0015523

Summaries for Factor Xi Deficiency

MedlinePlus Genetics : 43 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.Other 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.

MalaCards based summary : Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to hemophilia and placenta 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 Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, colon and prostate, and related phenotypes are prolonged partial thromboplastin time and reduced factor xi activity

Disease Ontology : 12 A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has material basis in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2.

GARD : 20 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.

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) (Updated 05-Apr-2021)

KEGG : 36 Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of hemorrhagic complications especially after trauma or surgery. More than 180 mutations in the FXI gene have been reported in patients with FXI deficiency.

UniProtKB/Swiss-Prot : 72 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 : 73 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 517)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.6 TFPI F9 F8 F7
2 placenta disease 30.4 SERPINC1 F5 F3 F2
3 thrombasthenia 30.3 F5 F3 F2
4 pulmonary hypertension 30.2 VWF THBD SERPINC1 F3 F2
5 branch retinal artery occlusion 30.2 SERPINC1 F3 F2
6 hemophilia a 30.2 VWF F9 F8 F7 F5 F3
7 dysfibrinogenemia, congenital 30.1 THBD SERPINC1 F5 F2
8 carotid artery occlusion 30.1 THBD F8 F5 F11
9 von willebrand's disease 30.1 VWF F9 F8 F7 F3 F2
10 high molecular weight kininogen deficiency 30.0 KNG1 F3 F12 F11
11 protein c deficiency 30.0 THBD SERPINC1 F9 F5 F2
12 polycythemia vera 30.0 VWF THBD F5 F2
13 purpura 29.9 VWF THBD SERPINC1 F3 F2
14 deficiency anemia 29.9 SERPINC1 F5 F2 CD8A CD4
15 thrombotic thrombocytopenic purpura 29.9 VWF THBD SERPINC1 F3
16 acute myocardial infarction 29.8 VWF THBD SERPINC1 F7 F3
17 hereditary angioedema 29.8 KNG1 ITIH4 F12
18 atrial fibrillation 29.8 VWF F9 F2 F10
19 retinal artery occlusion 29.8 SERPINC1 F9 F8 F5 F2
20 acquired hemophilia 29.7 F9 F8 F5 F3 F11 F10
21 plague 29.7 CD8A CD4 CCR5
22 bernard-soulier syndrome 29.7 VWF F9 F8 F7 F3 F2
23 antiphospholipid syndrome 29.6 VWF THBD SERPINC1 F5 F3 F2
24 hemarthrosis 29.6 VWF F9 F8 F7 F3 F2
25 glanzmann thrombasthenia 29.5 VWF F9 F8 F7 F3 F10
26 respiratory failure 29.5 THBD F3 F2 CD8A CD4
27 factor vii deficiency 29.5 SERPINC1 F9 F8 F7 F3 F2
28 thrombophilia due to thrombin defect 29.4 VWF THBD SERPINC1 F8 F5 F3
29 cardiovascular system disease 29.3 VWF THBD SERPINC1 KNG1 F7 F3
30 disease by infectious agent 29.3 ITIH4 CD8A CD4 CCR5
31 hemophilia b 29.2 VWF SERPINC1 F9 F8 F7 F3
32 pulmonary embolism 29.2 VWF THBD SERPINC1 F9 F8 F5
33 pre-eclampsia 29.2 VWF THBD SERPINC1 KNG1 F5 F3
34 cerebrovascular disease 29.2 VWF THBD F8 F7 F5 F2
35 factor xii deficiency 29.1 VWF SERPINC1 KNG1 F9 F7 F5
36 intracranial thrombosis 29.0 VWF SERPINC1 F8 F5 F3 F2
37 stroke, ischemic 29.0 VWF THBD SERPINC1 F9 F7 F5
38 inflammatory bowel disease 28.9 SERPINC1 F5 F3 F2 CD8A CCR5
39 factor viii deficiency 28.7 VWF TFPI SERPINC1 F9 F8 F7
40 thrombophilia 28.7 VWF THBD SERPINC1 F9 F8 F7
41 thrombocytopenia 28.5 VWF THBD SERPINC1 F9 F8 F7
42 thrombosis 28.3 VWF THBD TFPI SERPINC1 F9 F8
43 disseminated intravascular coagulation 28.2 VWF THBD TFPI SERPINC1 F9 F7
44 heart disease 28.1 VWF THBD SERPINC1 KNG1 F8 F7
45 hypertension, essential 27.8 VWF THBD SERPINC1 KNG1 F7 F3
46 myocardial infarction 27.8 VWF THBD SERPINC1 KNG1 F9 F8
47 hemorrhagic disease 27.2 VWF THBD TFPI SERPINC1 KNG1 F9
48 blood coagulation disease 26.6 VWF THBD TFPI SERPINC1 KNG1 F9
49 melkersson-rosenthal syndrome 11.9
50 factor ix and factor xi, combined deficiency of 11.2

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



Diseases related to Factor Xi Deficiency

Symptoms & Phenotypes for Factor Xi Deficiency

Human phenotypes related to Factor Xi Deficiency:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged partial thromboplastin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003645
2 reduced factor xi activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001929
3 prolonged bleeding after dental extraction 58 31 hallmark (90%) Very frequent (99-80%) HP:0006298
4 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
5 menorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0000132
6 gastrointestinal hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0002239
7 joint hemorrhage 58 31 very rare (1%) Very rare (<4-1%) HP:0005261
8 abnormal bleeding 58 31 Very frequent (99-80%) HP:0001892
9 abnormality of the intrinsic pathway 58 Very frequent (99-80%)

Clinical features from OMIM®:

612416 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Factor Xi Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.19 CCR5 CD4 CPB2 F10 F11 F12
2 cardiovascular system MP:0005385 10.1 CCR5 F10 F11 F2 F3 F5
3 immune system MP:0005387 9.97 CCR5 CD4 CD8A CPB2 F11 F2
4 mortality/aging MP:0010768 9.86 CCR5 CD4 CD8A CPB2 F10 F11
5 nervous system MP:0003631 9.4 CCR5 CD4 CD8A F11 F12 F2

Drugs & Therapeutics for Factor Xi Deficiency

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
2
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 2 83-88-5 493570
3 Vitamin B9 Phase 2
4 Nutrients Phase 2
5 Trace Elements Phase 2
6 Micronutrients Phase 2
7 Photosensitizing Agents Phase 2
8 Vitamin B Complex Phase 2
9 Folate Phase 2
10 Vitamins Phase 2
11 Dermatologic Agents Phase 2
12 Vitamin B2 Phase 2
13
Tranexamic Acid Approved 1197-18-8 5526
14 Hemostatics
15 Coagulants
16 Factor VIII

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Multiple Doses of ISIS 416858 (IONIS-FXIRX, an Antisense Inhibitor of Factor XI), Administered Subcutaneously to Patients With End-Stage Renal Disease on Hemodialysis Completed NCT03358030 Phase 2 ISIS 416858;Placebo
2 Factor XI LICA to Reduce Thrombotic Events in End-Stage Renal Disease Patients on Hemodialysis: A Phase 2, Randomized, Double-Blind, Placebo-Controlled Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Multiple Doses of BAY 2976217 Recruiting NCT04534114 Phase 2 BAY2976217;Placebo
3 A Double-Blind, Placebo-Controlled, Dose-Escalation Phase 1 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Single and Multiple Doses of ION-957943 (IONIS FXI-LRX, a GalNAc Conjugated 2'-MOE Chimeric Antisense Oligonucleotide Inhibitor of Factor XI) Administered Subcutaneously to Healthy Volunteers Completed NCT03582462 Phase 1 IONIS FXI-LRx;Placebo
4 A Single and Low Dose of Recombinant Factor VIIa in Patients With Severe Factor XI Deficiency Undergoing Surgery Unknown status NCT01538160 recombinant factor VIIa
5 The Influence of the Proteins of the Contact Activation System on Thrombus Formation in Human Blood Unknown status NCT02785718
6 Factor XI Levels in Acute Ischemic Stroke Completed NCT00890812
7 HEMOLEVEN® Expanded Access Program for Prevention of Surgical and Postpartum Hemorrhage in Patients With Severe Inherited Factor XI Deficiency No longer available NCT01701947

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:

40
Thyroid, Colon, Prostate, Breast

Publications for Factor Xi Deficiency

Articles related to Factor Xi Deficiency:

(show top 50) (show all 572)
# Title Authors PMID Year
1
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 61 57 6
11895778 2002
2
Heterozygous factor XI deficiency associated with three novel mutations. 61 6 57
10606881 1999
3
Factor XI deficiency in the French Basque Country. 61 6 57
10444286 1999
4
Six point mutations that cause factor XI deficiency. 57 6 61
7888672 1995
5
Factor XI deficiency in Ashkenazi Jews in Israel. 6 57 61
2052060 1991
6
Factor XI (plasma thromboplastin antecedent) deficiency in Ashkenazi Jews is a bleeding disorder that can result from three types of point mutations. 61 6 57
2813350 1989
7
Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene. 54 61 6
18832909 2008
8
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. 54 61 6
18515884 2008
9
Characterisation of five factor XI mutations. 6 54 61
17549289 2007
10
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 6 54 61
16607084 2006
11
Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val). 6 61 54
15842381 2005
12
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. 54 61 6
15946525 2005
13
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. 61 6 54
15531455 2004
14
Clinical and molecular epidemiology of factor XI deficiency in India. 61 6
27710856 2016
15
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 61 6
27067486 2016
16
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. 61 6
25074526 2014
17
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency. 61 6
24982842 2014
18
The spectrum of factor XI deficiency in Italy. 61 6
24112640 2014
19
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. 61 6
23332144 2013
20
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). 61 6
22159456 2012
21
Molecular analysis of severe factor XI deficiency in three Italian patients. 61 6
21649796 2011
22
Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. 61 6
21192253 2011
23
Thrombin generation in patients with factor XI deficiency and clinical bleeding risk. 61 6
20398070 2010
24
First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage. 61 6
19367158 2009
25
Factor XI Deficiency. 57 61
19598070 2009
26
Factor XI deficiency in Southern Iran: identification of a novel missense mutation. 6 61
18758779 2009
27
Partial and severe factor XI deficiency in South Australia and the usefulness of factor XI mutation analysis for diagnosis. 61 6
18446632 2008
28
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. 61 6
18327400 2008
29
Characterization of seven novel mutations causing factor XI deficiency. 6 61
18024374 2007
30
Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations. 61 6
16835901 2006
31
Coagulation factor XI gene analysis in three factor XI deficient Austrian patients. 6 61
16519703 2006
32
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). 6 61
16079124 2005
33
A classification system for cross-reactive material-negative factor XI deficiency. 61 6
15728123 2005
34
Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 61 6
15749683 2005
35
Structural interpretation of 42 mutations causing factor XI deficiency using homology modeling. 6 61
15634276 2005
36
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 6 61
15026311 2004
37
Severe factor XI deficiency caused by compound heterozygosity. 6 61
15180874 2004
38
A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency. 61 6
15140127 2004
39
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. 6 61
14717969 2004
40
Two factor XI mutations in a Chinese family with factor XI deficiency. 61 6
14508802 2003
41
Compound heterozygosity for two novel mutations in a severe factor XI deficiency. 6 61
12879434 2003
42
Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. 61 57
12586617 2003
43
Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography. 61 6
12716376 2003
44
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. 61 6
11122101 2000
45
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. 61 6
11127865 2000
46
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 61 6
9401068 1997
47
Identification of two novel mutations in non-Jewish factor XI deficiency. 61 6
7669672 1995
48
Factor XI deficiency acquired by liver transplantation. 57 61
1952475 1991
49
Factor XI deficiency: genetic and clinical studies of a single kindred. 61 57
3369441 1988
50
Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. 61 57
3553944 1987

Variations for Factor Xi Deficiency

ClinVar genetic disease variations for Factor Xi Deficiency:

6 (show top 50) (show all 212)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F11-AS1 , F11 NM_000128.3(F11):c.1716+1G>A SNV Pathogenic 11890 rs373297713 GRCh37: 4:187208978-187208978
GRCh38: 4:186287824-186287824
2 F11 NM_000128.4(F11):c.1029-2A>G SNV Pathogenic 11893 rs1024865708 GRCh37: 4:187201626-187201626
GRCh38: 4:186280472-186280472
3 F11 NM_000128.4(F11):c.485+5G>C SNV Pathogenic 11894 rs1173748968 GRCh37: 4:187195434-187195434
GRCh38: 4:186274280-186274280
4 F11 NM_000128.3(F11):c.1378T>G (p.Phe460Val) SNV Pathogenic 11895 rs121965065 GRCh37: 4:187206865-187206865
GRCh38: 4:186285711-186285711
5 F11 NM_000128.3(F11):c.1211C>A (p.Thr404Asn) SNV Pathogenic 11897 rs121965067 GRCh37: 4:187205321-187205321
GRCh38: 4:186284167-186284167
6 F11-AS1 , F11 NM_000128.3(F11):c.1760G>C (p.Trp587Ser) SNV Pathogenic 11904 rs121965072 GRCh37: 4:187209650-187209650
GRCh38: 4:186288496-186288496
7 F11 F11, DEL Deletion Pathogenic 11905 GRCh37:
GRCh38:
8 F11 NM_000128.3(F11):c.1289C>T (p.Ala430Val) SNV Pathogenic 11899 rs121965068 GRCh37: 4:187205399-187205399
GRCh38: 4:186284245-186284245
9 F11-AS1 , F11 NM_000128.3(F11):c.1782C>A (p.Ser594Arg) SNV Pathogenic 11900 rs28934609 GRCh37: 4:187209672-187209672
GRCh38: 4:186288518-186288518
10 F11 NM_000128.3(F11):c.326-1G>A SNV Pathogenic 371555 rs1057517364 GRCh37: 4:187195269-187195269
GRCh38: 4:186274115-186274115
11 F11-AS1 , F11 NM_000128.3(F11):c.1822T>C (p.Tyr608His) SNV Pathogenic 68189 rs281875255 GRCh37: 4:187209712-187209712
GRCh38: 4:186288558-186288558
12 F11 NM_000128.3(F11):c.365G>A (p.Gly122Asp) SNV Pathogenic 627202 rs369650561 GRCh37: 4:187195309-187195309
GRCh38: 4:186274155-186274155
13 F11 NM_000128.3(F11):c.802C>T (p.Arg268Cys) SNV Pathogenic 627142 rs763496524 GRCh37: 4:187201212-187201212
GRCh38: 4:186280058-186280058
14 F11 NM_000128.3(F11):c.1288G>A (p.Ala430Thr) SNV Pathogenic 291081 rs753909969 GRCh37: 4:187205398-187205398
GRCh38: 4:186284244-186284244
15 F11 NM_000128.3(F11):c.841C>T (p.Gln281Ter) SNV Pathogenic 449563 rs770505620 GRCh37: 4:187201251-187201251
GRCh38: 4:186280097-186280097
16 F11 NM_000128.3(F11):c.403G>T (p.Glu135Ter) SNV Pathogenic 11891 rs121965063 GRCh37: 4:187195347-187195347
GRCh38: 4:186274193-186274193
17 F11 NM_000128.3(F11):c.901T>C (p.Phe301Leu) SNV Pathogenic 11892 rs121965064 GRCh37: 4:187201412-187201412
GRCh38: 4:186280258-186280258
18 F11 NM_000128.4(F11):c.1028+1G>T SNV Pathogenic 1034079 GRCh37: 4:187201540-187201540
GRCh38: 4:186280386-186280386
19 F11 NM_000128.3(F11):c.901T>C (p.Phe301Leu) SNV Pathogenic/Likely pathogenic 11892 rs121965064 GRCh37: 4:187201412-187201412
GRCh38: 4:186280258-186280258
20 F11 NM_000128.3(F11):c.438C>A (p.Cys146Ter) SNV Pathogenic/Likely pathogenic 11896 rs121965066 GRCh37: 4:187195382-187195382
GRCh38: 4:186274228-186274228
21 F11-AS1 , F11 NM_000128.3(F11):c.1489C>T (p.Arg497Ter) SNV Pathogenic/Likely pathogenic 280137 rs375422404 GRCh37: 4:187207577-187207577
GRCh38: 4:186286423-186286423
22 F11 NM_000128.3(F11):c.1432G>A (p.Gly478Arg) SNV Pathogenic/Likely pathogenic 285379 rs542967227 GRCh37: 4:187206919-187206919
GRCh38: 4:186285765-186285765
23 F11 NM_000128.3(F11):c.755+2T>C SNV Pathogenic/Likely pathogenic 552888 rs1220869989 GRCh37: 4:187197546-187197546
GRCh38: 4:186276392-186276392
24 F11 NM_000128.3(F11):c.1234C>T (p.Gln412Ter) SNV Pathogenic/Likely pathogenic 554679 rs538083600 GRCh37: 4:187205344-187205344
GRCh38: 4:186284190-186284190
25 F11 NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) SNV Pathogenic/Likely pathogenic 371565 rs779802284 GRCh37: 4:187205357-187205357
GRCh38: 4:186284203-186284203
26 F11-AS1 , F11 NM_000128.3(F11):c.1556G>A (p.Trp519Ter) SNV Pathogenic/Likely pathogenic 188887 rs201007090 GRCh37: 4:187207644-187207644
GRCh38: 4:186286490-186286490
27 F11 NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) SNV Pathogenic/Likely pathogenic 189115 rs773905328 GRCh37: 4:187201706-187201706
GRCh38: 4:186280552-186280552
28 F11 NM_000128.3(F11):c.908del (p.Gly303fs) Deletion Likely pathogenic 189129 rs786204722 GRCh37: 4:187201417-187201417
GRCh38: 4:186280263-186280263
29 F11 NM_000128.3(F11):c.1313C>A (p.Ser438Ter) SNV Likely pathogenic 189138 rs786204724 GRCh37: 4:187206800-187206800
GRCh38: 4:186285646-186285646
30 F11-AS1 , F11 NM_000128.3(F11):c.1613C>T (p.Pro538Leu) SNV Likely pathogenic 189154 rs139695003 GRCh37: 4:187208874-187208874
GRCh38: 4:186287720-186287720
31 F11 NM_000128.3(F11):c.1075del (p.Ile359fs) Deletion Likely pathogenic 188727 rs786204429 GRCh37: 4:187201671-187201671
GRCh38: 4:186280517-186280517
32 F11 NM_000128.3(F11):c.961_962delTG Microsatellite Likely pathogenic 188757 rs786204449 GRCh37: 4:187201470-187201471
GRCh38: 4:186280316-186280317
33 F11 NM_000128.3(F11):c.1186C>T (p.Arg396Cys) SNV Likely pathogenic 188760 rs771896253 GRCh37: 4:187205296-187205296
GRCh38: 4:186284142-186284142
34 F11-AS1 , F11 NM_000128.3(F11):c.1693G>A (p.Glu565Lys) SNV Likely pathogenic 68186 rs281875275 GRCh37: 4:187208954-187208954
GRCh38: 4:186287800-186287800
35 F11 NM_000128.3(F11):c.976C>T (p.Arg326Cys) SNV Likely pathogenic 11898 rs28934608 GRCh37: 4:187201487-187201487
GRCh38: 4:186280333-186280333
36 F11 NM_000128.3(F11):c.408C>A (p.Cys136Ter) SNV Likely pathogenic 188914 rs143648758 GRCh37: 4:187195352-187195352
GRCh38: 4:186274198-186274198
37 F11 NM_000128.3(F11):c.751C>T (p.Gln251Ter) SNV Likely pathogenic 188920 rs754087775 GRCh37: 4:187197540-187197540
GRCh38: 4:186276386-186276386
38 F11 NM_000128.3(F11):c.730C>T (p.Gln244Ter) SNV Likely pathogenic 189094 rs747702749 GRCh37: 4:187197519-187197519
GRCh38: 4:186276365-186276365
39 F11-AS1 , F11 NM_000128.3(F11):c.1676_1682del (p.Ile559fs) Deletion Likely pathogenic 371311 rs1057517171 GRCh37: 4:187208937-187208943
GRCh38: 4:186287783-186287789
40 F11 NM_000128.3(F11):c.25_28del (p.His9fs) Deletion Likely pathogenic 370594 rs1057516616 GRCh37: 4:187188315-187188318
GRCh38: 4:186267161-186267164
41 F11-AS1 , F11 NM_000128.3(F11):c.1724C>T (p.Ser575Leu) SNV Likely pathogenic 68187 rs281875250 GRCh37: 4:187209614-187209614
GRCh38: 4:186288460-186288460
42 F11 NM_000128.3(F11):c.990dup (p.Thr331fs) Duplication Likely pathogenic 550141 rs1554082938 GRCh37: 4:187201495-187201496
GRCh38: 4:186280341-186280342
43 F11-AS1 , F11 NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) Duplication Likely pathogenic 550369 rs1554084031 GRCh37: 4:187208880-187208881
GRCh38: 4:186287726-186287727
44 F11 NM_000128.3(F11):c.964_965del (p.Thr322fs) Deletion Likely pathogenic 370362 rs1057516431 GRCh37: 4:187201474-187201475
GRCh38: 4:186280320-186280321
45 F11 NM_000128.3(F11):c.1390C>T (p.Gln464Ter) SNV Likely pathogenic 371138 rs1057517035 GRCh37: 4:187206877-187206877
GRCh38: 4:186285723-186285723
46 F11 NM_000128.3(F11):c.1305-1G>A SNV Likely pathogenic 371352 rs1057517204 GRCh37: 4:187206791-187206791
GRCh38: 4:186285637-186285637
47 F11 NM_000128.3(F11):c.596-7_600del Deletion Likely pathogenic 371238 rs1057517116 GRCh37: 4:187197376-187197387
GRCh38: 4:186276222-186276233
48 F11-AS1 , F11 NM_000128.3(F11):c.1778C>T (p.Thr593Met) SNV Likely pathogenic 371214 rs145906668 GRCh37: 4:187209668-187209668
GRCh38: 4:186288514-186288514
49 F11-AS1 , F11 NM_000128.3(F11):c.1789G>T (p.Glu597Ter) SNV Likely pathogenic 370342 rs281875251 GRCh37: 4:187209679-187209679
GRCh38: 4:186288525-186288525
50 F11 NM_000128.3(F11):c.1232_1235del (p.Thr411fs) Deletion Likely pathogenic 371658 rs1057517446 GRCh37: 4:187205340-187205343
GRCh38: 4:186284186-186284189

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

72 (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 rs155408375
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

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:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Factor Xi Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 VWF THBD TFPI SERPINC1 KNG1 ITIH4
2
Show member pathways
12.53 THBD TFPI SERPINC1 KNG1 F9 F8
3
Show member pathways
12.2 VWF THBD TFPI SERPINC1 KNG1 F9
4
Show member pathways
11.7 F9 F7 F2 F10
5 11.66 VWF THBD TFPI SERPINC1 KNG1 F9
6 11.45 THBD CD8A CD4
7 10.8 F9 F7 F2 F10

GO Terms for Factor Xi Deficiency

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.25 THBD TFPI SERPINC1 KNG1 ITIH4 F9
2 extracellular exosome GO:0070062 10.16 VWF SERPINC1 KNG1 ITIH4 F9 F2
3 collagen-containing extracellular matrix GO:0062023 9.91 VWF SERPINC1 KNG1 ITIH4 F9 F7
4 external side of plasma membrane GO:0009897 9.89 THBD F2 CD8A CD4 CCR5
5 extracellular region GO:0005576 9.86 VWF TFPI SERPINC1 KNG1 ITIH4 F9
6 endoplasmic reticulum lumen GO:0005788 9.81 SERPINC1 KNG1 F9 F8 F7 F5
7 blood microparticle GO:0072562 9.78 SERPINC1 KNG1 ITIH4 F2
8 Golgi lumen GO:0005796 9.71 F9 F7 F2 F10
9 platelet alpha granule lumen GO:0031093 9.67 VWF KNG1 F8 F5
10 platelet alpha granule GO:0031091 9.52 VWF F5
11 extracellular space GO:0005615 9.5 VWF THBD TFPI SERPINC1 KNG1 F9
12 intrinsic component of external side of plasma membrane GO:0031233 9.46 F3 F10
13 serine-type peptidase complex GO:1905286 9.43 F7 F3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.04 F9 F7 F2 F12 F11 F10
2 cellular protein metabolic process GO:0044267 9.89 SERPINC1 KNG1 F5 F2
3 negative regulation of endopeptidase activity GO:0010951 9.87 TFPI SERPINC1 KNG1 ITIH4
4 negative regulation of peptidase activity GO:0010466 9.83 TFPI SERPINC1 KNG1 ITIH4
5 hemostasis GO:0007599 9.83 VWF THBD TFPI SERPINC1 KNG1 F9
6 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F9 F8 F7 F5 F2 F10
7 protein processing GO:0016485 9.77 F7 F3 F12
8 platelet degranulation GO:0002576 9.77 VWF KNG1 ITIH4 F8 F5
9 acute-phase response GO:0006953 9.71 ITIH4 F8 F2
10 blood coagulation, intrinsic pathway GO:0007597 9.7 VWF KNG1 F9 F8 F2 F12
11 fibrinolysis GO:0042730 9.69 F2 F12 CPB2
12 positive regulation of blood coagulation GO:0030194 9.65 F7 F2 F12
13 negative regulation of blood coagulation GO:0030195 9.63 THBD TFPI KNG1
14 response to cholesterol GO:0070723 9.61 F7 CCR5
15 positive regulation of positive chemotaxis GO:0050927 9.61 F7 F3
16 regulation of blood coagulation GO:0030193 9.61 SERPINC1 F2 F11
17 negative regulation of platelet activation GO:0010544 9.58 THBD F2
18 fusion of virus membrane with host plasma membrane GO:0019064 9.58 CD4 CCR5
19 negative regulation of fibrinolysis GO:0051918 9.58 THBD F2 CPB2
20 positive regulation of fibrinolysis GO:0051919 9.56 F12 F11
21 blood coagulation, extrinsic pathway GO:0007598 9.56 TFPI F7 F3 F10
22 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.55 F7 F3
23 blood coagulation GO:0007596 9.5 VWF THBD TFPI SERPINC1 KNG1 F9

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.93 THBD F9 F7 F2 F12 F10
2 heparin binding GO:0008201 9.73 SERPINC1 KNG1 F2 F11
3 peptidase activity GO:0008233 9.7 F9 F7 F2 F12 F11 F10
4 serine-type endopeptidase inhibitor activity GO:0004867 9.65 TFPI SERPINC1 ITIH4
5 endopeptidase inhibitor activity GO:0004866 9.58 TFPI KNG1 ITIH4
6 peptidase inhibitor activity GO:0030414 9.56 TFPI SERPINC1 KNG1 ITIH4
7 coreceptor activity GO:0015026 9.5 CD8A CD4 CCR5
8 serine-type peptidase activity GO:0008236 9.43 F9 F7 F2 F12 F11 F10
9 immunoglobulin binding GO:0019865 9.37 VWF CD4
10 serine-type endopeptidase activity GO:0004252 9.17 F9 F7 F3 F2 F12 F11

Sources for Factor Xi Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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