FA11D
MCID: FCT002
MIFTS: 59

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 74 37 55 44 15 72
Plasma Thromboplastin Antecedent Deficiency 57 12 53 25 59 74
Rosenthal Syndrome 57 53 25 59 74
Pta Deficiency 57 53 25 59 74
Hemophilia C 12 53 25 59 74
Rosenthal Factor Deficiency 53 25 59 74
F11 Deficiency 57 53 25 74
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 74
Rosenthal's Disease 12 25
Factor Xi Deficiency, Autosomal Recessive 57
Factor Xi Deficiency, Congenital 75
Deficiency, Factor Xi 40
Haemophilia C 25
Fa11d 74

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:

Disease Ontology 12 DOID:2229
OMIM 57 612416
KEGG 37 H00938
ICD9CM 35 286.2
MeSH 44 D005173
NCIt 50 C84705
SNOMED-CT 68 49762007
ICD10 33 D68.1
ICD10 via Orphanet 34 D68.1
UMLS via Orphanet 73 C0015523
Orphanet 59 ORPHA329
MedGen 42 C0015523
UMLS 72 C0015523

Summaries for Factor Xi Deficiency

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. 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 hemarthrosis and thrombasthenia. 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 Tranexamic Acid and Hemostatics have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and thyroid, and related phenotypes are prolonged partial thromboplastin time and prolonged bleeding after dental extraction

Disease Ontology : 12 An autosomal genetic 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.

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.

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)

KEGG : 37
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 : 74 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 : 75 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 347)
# Related Disease Score Top Affiliating Genes
1 hemarthrosis 30.6 F9 F8
2 thrombasthenia 30.5 F3 F2
3 factor viii deficiency 30.3 F8 F2 F11
4 hemophilia 30.3 F9 F8 F3 F2
5 squamous cell papilloma 30.1 F3 F2
6 placenta disease 30.0 SERPINC1 F3
7 hemophilia a 29.9 F9 F8 F3 F11
8 pulmonary embolism 29.7 SERPINC1 F9 F3 F2
9 carotid artery occlusion 29.5 THBD F8
10 von willebrand's disease 29.4 F9 F8 F3 F2 F11
11 acquired hemophilia 29.4 F9 F8 F3 F11
12 factor xii deficiency 29.3 SERPINC1 F9 F3 F12
13 factor vii deficiency 29.3 F9 F8 F3 F2
14 glanzmann thrombasthenia 29.3 F9 F8 F3 F2
15 antiphospholipid syndrome 28.9 THBD SERPINC1 F3 F2
16 purpura 28.7 THBD SERPINC1 F3 F2
17 stroke, ischemic 28.6 THBD SERPINC1 F3 F2
18 pre-eclampsia 28.6 THBD SERPINC1 F3 F2
19 hemophilia b 28.6 SERPINC1 F9 F8 F3 F2 F11
20 thrombophilia due to thrombin defect 28.3 THBD SERPINC1 F8 F3 F2
21 disseminated intravascular coagulation 28.2 THBD SERPINC1 F9 F3 F2
22 thrombosis 28.2 THBD SERPINC1 F9 F8 F3 F2
23 hemorrhagic disease 27.9 THBD SERPINC1 F9 F8 F3 F2
24 blood coagulation disease 27.5 THBD SERPINC1 F9 F8 F3 F2
25 myocardial infarction 27.5 THBD SERPINC1 F8 F3 F2 F11
26 thrombophilia 27.3 THBD SERPINC1 F9 F8 F3 F2
27 melkersson-rosenthal syndrome 12.9
28 orofacial granulomatosis 11.6
29 facial paralysis 10.8
30 cheilitis 10.7
31 fissured tongue 10.6
32 hydrops, lactic acidosis, and sideroblastic anemia 10.5
33 cerebral falx meningioma 10.4 F3 F2
34 crohn's disease 10.4
35 prothrombin deficiency 10.4 F3 F2
36 cerebral sinovenous thrombosis 10.4 F3 F2
37 lemierre's syndrome 10.4 F3 F11
38 qualitative platelet defect 10.4 F3 F2
39 endocarditis 10.4 SERPINC1 F2
40 femoral neuropathy 10.4 F3 F2
41 hantavirus pulmonary syndrome 10.4 F3 F2
42 anterior cranial fossa meningioma 10.4 F3 F2
43 heparin-induced thrombocytopenia 10.4 SERPINC1 F3
44 splenic disease 10.4 F3 F2
45 congenital disorder of glycosylation, type ia 10.4 SERPINC1 F9
46 sarcoidosis 1 10.4
47 bell's palsy 10.4
48 spinal cord infarction 10.4 SERPINC1 F2
49 alpha-2-plasmin inhibitor deficiency 10.3 SERPINC1 F2
50 prothrombin deficiency, congenital 10.3 SERPINC1 F2

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:

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

Clinical features from OMIM:

612416

MGI Mouse Phenotypes related to Factor Xi Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 CPB2 F11 F12 F2 F3 F8
2 cardiovascular system MP:0005385 9.88 F11 F2 F3 F9 SERPINC1 THBD
3 hematopoietic system MP:0005397 9.87 F11 F2 F3 F8 F9 SERPINC1
4 embryo MP:0005380 9.77 F2 F3 F9 SERPINC1 THBD
5 immune system MP:0005387 9.76 CPB2 F11 F2 F3 F8 F9
6 mortality/aging MP:0010768 9.56 CPB2 F11 F2 F3 F8 F9
7 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved 1197-18-8 5526
2 Hemostatics
3 Coagulants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single and Low Dose of Recombinant Factor VIIa in Patients With Severe Factor XI Deficiency Undergoing Surgery Unknown status NCT01538160 recombinant factor VIIa
2 The Influence of the Proteins of the Contact Activation System on Thrombus Formation in Human Blood Unknown status NCT02785718
3 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Not yet recruiting NCT03273998
4 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:

41
Skin, Liver, Thyroid, Colon, Prostate, Testes, Brain

Publications for Factor Xi Deficiency

Articles related to Factor Xi Deficiency:

(show top 50) (show all 519)
# Title Authors PMID Year
1
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. 38 8 71
11895778 2002
2
Heterozygous factor XI deficiency associated with three novel mutations. 38 8 71
10606881 1999
3
Factor XI deficiency in the French Basque Country. 38 8 71
10444286 1999
4
Six point mutations that cause factor XI deficiency. 38 8 71
7888672 1995
5
Factor XI deficiency in Ashkenazi Jews in Israel. 38 8 71
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. 38 8 71
2813350 1989
7
Factor XI Deficiency. 38 8
19598070 2009
8
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 38 71
15026311 2004
9
Severe factor XI deficiency caused by compound heterozygosity. 38 71
15180874 2004
10
Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. 38 8
12586617 2003
11
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 38 71
9401068 1997
12
Identification of two novel mutations in non-Jewish factor XI deficiency. 38 71
7669672 1995
13
Factor XI deficiency acquired by liver transplantation. 38 8
1952475 1991
14
Factor XI deficiency: genetic and clinical studies of a single kindred. 38 8
3369441 1988
15
Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. 38 8
3553944 1987
16
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. 38 8
3086578 1986
17
Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. 38 8
3871646 1985
18
Factor XI deficiency in an Arab Moslem family in Israel. 38 8
6701468 1984
19
Plasma thromboplastin antecedent (Factor XI) deficiency in a black family. 38 8
7235815 1981
20
Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. 38 8
985704 1976
21
The prevalence of plasma thromboplastin antecedent (PTA, factor XI) deficiency. 38 8
4416433 1974
22
Canine factor XI (plasma thromboplastin antecedent) deficiency. 38 8
5166932 1971
23
[Partial familial factor XI deficiency]. 38 8
6039626 1967
24
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. 8
22975760 2013
25
Genetic analysis in FXI deficiency: six novel mutations and the use of a polymerase chain reaction-based test to define a whole gene deletion. 71
15953011 2005
26
Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 71
1547342 1992
27
Identification of a defective factor XI cross-reacting material in a factor XI-deficient patient. 8
2439152 1987
28
The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. 8
13739555 1961
29
Plasma thromboplastin antecedent (PTA) deficiency; clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. 8
13230164 1955
30
New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. 8
13037836 1953
31
Lower doses of rFVIIa therapy are safe and effective for surgical interventions in patients with severe FXI deficiency and inhibitors. 9 38
19486172 2009
32
A case of factor XI deficiency caused by compound heterozygous F11 gene mutation. 9 38
19347998 2009
33
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 9 38
18803553 2009
34
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. 9 38
18832909 2008
35
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. 9 38
18515884 2008
36
Characterisation of five factor XI mutations. 9 38
17549289 2007
37
Inherited factor XI deficiency: a concise review. 9 38
17607578 2006
38
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 9 38
16607084 2006
39
Preoperative screening for coagulopathy using prothrombin time and partial thromboplastin time in patients requiring primary cranial vault remodeling. 9 38
16079661 2005
40
Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. 9 38
15870541 2005
41
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). 9 38
15842381 2005
42
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? 9 38
15823864 2005
43
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. 9 38
15946525 2005
44
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. 9 38
15531455 2004
45
High prevalence of acquired von Willebrand's syndrome in patients with thyroid diseases undergoing thyroid surgery. 9 38
15531456 2004
46
Severe factor XI deficiency caused by a Gly555 to Glu mutation (factor XI-Glu555): a cross-reactive material positive variant defective in factor IX activation. 9 38
15456490 2004
47
[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency]. 9 38
15182578 2004
48
Platelet functional defects in women with unexplained menorrhagia. 9 38
12871453 2003
49
Fresh frozen plasma in the pediatric age group and in congenital coagulation factor deficiency. 9 38
12379290 2002
50
Clinical and laboratory features of 178 children with recurrent epistaxis. 9 38
11902740 2002

Variations for Factor Xi Deficiency

ClinVar genetic disease variations for Factor Xi Deficiency:

6 (show top 50) (show all 144)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F11 NM_000128.3(F11): c.326-1G> A single nucleotide variant Pathogenic rs1057517364 4:187195269-187195269 4:186274115-186274115
2 F11 NM_000128.3(F11): c.841C> T (p.Gln281Ter) single nucleotide variant Pathogenic rs770505620 4:187201251-187201251 4:186280097-186280097
3 F11 F11, IVS9AS, A-G, -2 single nucleotide variant Pathogenic
4 F11 F11, IVS5DS, G-C, +5 single nucleotide variant Pathogenic
5 F11 NM_000128.3(F11): c.1378T> G (p.Phe460Val) single nucleotide variant Pathogenic rs121965065 4:187206865-187206865 4:186285711-186285711
6 F11 NM_000128.3(F11): c.438C> A (p.Cys146Ter) single nucleotide variant Pathogenic rs121965066 4:187195382-187195382 4:186274228-186274228
7 F11 NM_000128.3(F11): c.1211C> A (p.Thr404Asn) single nucleotide variant Pathogenic rs121965067 4:187205321-187205321 4:186284167-186284167
8 F11 NM_000128.3(F11): c.976C> T (p.Arg326Cys) single nucleotide variant Pathogenic rs28934608 4:187201487-187201487 4:186280333-186280333
9 F11 NM_000128.3(F11): c.1289C> T (p.Ala430Val) single nucleotide variant Pathogenic rs121965068 4:187205399-187205399 4:186284245-186284245
10 F11 NM_000128.3(F11): c.1782C> A (p.Ser594Arg) single nucleotide variant Pathogenic rs28934609 4:187209672-187209672 4:186288518-186288518
11 F11 NM_000128.3(F11): c.1716+1G> A single nucleotide variant Pathogenic rs373297713 4:187208978-187208978 4:186287824-186287824
12 F11 NM_000128.3(F11): c.403G> T (p.Glu135Ter) single nucleotide variant Pathogenic rs121965063 4:187195347-187195347 4:186274193-186274193
13 F11 NM_000128.3(F11): c.1760G> C (p.Trp587Ser) single nucleotide variant Pathogenic rs121965072 4:187209650-187209650 4:186288496-186288496
14 F11 F11, DEL deletion Pathogenic
15 F11 NM_000128.3(F11): c.1489C> T (p.Arg497Ter) single nucleotide variant Pathogenic rs375422404 4:187207577-187207577 4:186286423-186286423
16 F11 NM_000128.3(F11): c.1432G> A (p.Gly478Arg) single nucleotide variant Pathogenic/Likely pathogenic rs542967227 4:187206919-187206919 4:186285765-186285765
17 F11 NM_000128.3(F11): c.1556G> A (p.Trp519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201007090 4:187207644-187207644 4:186286490-186286490
18 F11 NM_000128.3(F11): c.901T> C (p.Phe301Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121965064 4:187201412-187201412 4:186280258-186280258
19 F11 NM_000128.3(F11): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768409400 4:187192774-187192774 4:186271620-186271620
20 F11 NM_000128.3(F11): c.1107C> A (p.Tyr369Ter) single nucleotide variant Pathogenic/Likely pathogenic rs773905328 4:187201706-187201706 4:186280552-186280552
21 F11 NM_000128.3(F11): c.1234C> T (p.Gln412Ter) single nucleotide variant Pathogenic/Likely pathogenic rs538083600 4:187205344-187205344 4:186284190-186284190
22 F11 NM_000128.3(F11): c.1136-7_1136-4del deletion Pathogenic/Likely pathogenic rs1439195599 4:187205238-187205242 4:186284085-186284088
23 F11 NM_000128.3(F11): c.1247G> A (p.Cys416Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs779802284 4:187205357-187205357 4:186284203-186284203
24 F11 NM_000128.3(F11): c.1305-1G> A single nucleotide variant Likely pathogenic rs1057517204 4:187206791-187206791 4:186285637-186285637
25 F11 NM_000128.3(F11): c.1390C> T (p.Gln464Ter) single nucleotide variant Likely pathogenic rs1057517035 4:187206877-187206877 4:186285723-186285723
26 F11 NM_000128.3(F11): c.1560dup (p.Tyr521fs) duplication Likely pathogenic rs1057516777 4:187207648-187207648 4:186286494-186286494
27 F11 NM_000128.3(F11): c.1676_1682del (p.Ile559fs) deletion Likely pathogenic rs1057517171 4:187208937-187208943 4:186287783-186287789
28 F11 NM_000128.3(F11): c.1778C> T (p.Thr593Met) single nucleotide variant Likely pathogenic rs145906668 4:187209668-187209668 4:186288514-186288514
29 F11 NM_000128.3(F11): c.1789G> T (p.Glu597Ter) single nucleotide variant Likely pathogenic rs281875251 4:187209679-187209679 4:186288525-186288525
30 F11 NM_000128.3(F11): c.486-2A> G single nucleotide variant Likely pathogenic rs1057516695 4:187196939-187196939 4:186275785-186275785
31 F11 NM_000128.3(F11): c.596-7_600del deletion Likely pathogenic rs1057517116 4:187197378-187197389 4:186276224-186276235
32 F11 NM_000128.3(F11): c.964_965del (p.Thr322fs) deletion Likely pathogenic rs1057516431 4:187201475-187201476 4:186280321-186280322
33 F11 NM_000128.3(F11): c.1232_1235del (p.Thr411fs) deletion Likely pathogenic rs1057517446 4:187205342-187205345 4:186284188-186284191
34 F11 NM_000128.3(F11): c.25_28del (p.His9fs) deletion Likely pathogenic rs1057516616 4:187188315-187188318 4:186267161-186267164
35 F11 NM_000128.3(F11): c.218+1G> A single nucleotide variant Likely pathogenic rs1057516738 4:187192926-187192926 4:186271772-186271772
36 F11 NM_000128.3(F11): c.219G> A (p.Trp73Ter) single nucleotide variant Likely pathogenic rs762013077 4:187194225-187194225 4:186273071-186273071
37 F11 NM_000128.3(F11): c.291del (p.Tyr98fs) deletion Likely pathogenic rs1057517151 4:187194297-187194297 4:186273143-186273143
38 F11 NM_000128.3(F11): c.2T> A (p.Met1Lys) single nucleotide variant Likely pathogenic rs1554081281 4:187188292-187188292 4:186267138-186267138
39 F11 NM_000128.3(F11): c.16C> T (p.Gln6Ter) single nucleotide variant Likely pathogenic rs1554081288 4:187188306-187188306 4:186267152-186267152
40 F11 NM_000128.3(F11): c.990dup (p.Thr331fs) duplication Likely pathogenic rs1554082938 4:187201495-187201495 4:186280347-186280347
41 F11 NM_000128.3(F11): c.1481-1G> C single nucleotide variant Likely pathogenic rs1057516506 4:187207568-187207568 4:186286414-186286414
42 F11 NM_000128.3(F11): c.1620_1621dup (p.Thr541fs) duplication Likely pathogenic rs1554084031 4:187208880-187208880 4:186287727-186287728
43 F11 NM_000128.3(F11): c.155dup (p.Tyr52Ter) duplication Likely pathogenic rs1554081886 4:187192861-187192861 4:186271708-186271708
44 F11 NM_000128.3(F11): c.769del (p.Thr259fs) deletion Likely pathogenic rs1554082832 4:187201177-187201178 4:186280025-186280025
45 F11 NM_000128.3(F11): c.644_649del (p.Ile215_Asp216del) deletion Likely pathogenic rs1459304265 4:187197429-187197435 4:186276279-186276284
46 F11 NM_000128.3(F11): c.1362_1375del (p.Lys455fs) deletion Likely pathogenic rs1554083734 4:187206846-187206860 4:186285695-186285708
47 F11 NM_000128.3(F11): c.1478C> T (p.Thr493Ile) single nucleotide variant Likely pathogenic rs1554083754 4:187206965-187206965 4:186285811-186285811
48 F11 NM_000128.3(F11): c.990del (p.Phe330fs) deletion Likely pathogenic rs1554082938 4:187201495-187201496 4:186280347-186280347
49 F11 NM_000128.3(F11): c.755+2T> C single nucleotide variant Likely pathogenic rs1220869989 4:187197546-187197546 4:186276392-186276392
50 F11 NM_000128.3(F11): c.1329del (p.Val444fs) deletion Likely pathogenic rs1554083727 4:187206815-187206816 4:186285662-186285662

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

74 (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:

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 9.86 THBD SERPINC1 F9 F8 F3 F2
2 extracellular exosome GO:0070062 9.8 SERPINC1 F9 F2 F12 F11 CPB2
3 extracellular region GO:0005576 9.56 SERPINC1 F9 F8 F3 F2 F12
4 endoplasmic reticulum lumen GO:0005788 9.46 SERPINC1 F9 F8 F2
5 extracellular space GO:0005615 9.28 THBD SERPINC1 F9 F8 F3 F2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.83 F9 F2 F12 F11 CPB2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.69 F9 F8 F2
3 hemostasis GO:0007599 9.61 THBD SERPINC1 F9 F8 F3 F2
4 blood coagulation, intrinsic pathway GO:0007597 9.55 F9 F8 F2 F12 F11
5 protein processing GO:0016485 9.54 F3 F12
6 fibrinolysis GO:0042730 9.54 F2 F12 CPB2
7 acute-phase response GO:0006953 9.52 F8 F2
8 negative regulation of fibrinolysis GO:0051918 9.5 THBD F2 CPB2
9 zymogen activation GO:0031638 9.49 F9 F12
10 positive regulation of blood coagulation GO:0030194 9.48 F2 F12
11 negative regulation of platelet activation GO:0010544 9.46 THBD F2
12 regulation of blood coagulation GO:0030193 9.43 SERPINC1 F2 F11
13 positive regulation of fibrinolysis GO:0051919 9.4 F12 F11
14 blood coagulation GO:0007596 9.28 THBD SERPINC1 F9 F8 F3 F2

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 F9 F2 F12 F11 CPB2
2 calcium ion binding GO:0005509 9.62 THBD F9 F2 F12
3 peptidase activity GO:0008233 9.55 F9 F2 F12 F11 CPB2
4 heparin binding GO:0008201 9.43 SERPINC1 F2 F11
5 serine-type peptidase activity GO:0008236 9.26 F9 F2 F12 F11
6 serine-type endopeptidase activity GO:0004252 9.02 F9 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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