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 56 12 52 25 73 36 54 43 15 71
Plasma Thromboplastin Antecedent Deficiency 56 12 52 25 58 73
Rosenthal Syndrome 56 52 25 58 73
Pta Deficiency 56 52 25 58 73
Hemophilia C 12 52 25 58 73
Rosenthal Factor Deficiency 52 25 58 73
F11 Deficiency 56 52 25 73
Hereditary Factor Xi Deficiency Disease 12 29 6
Congenital Factor Xi Deficiency 12 52 58
Factor Xi Deficiency, Autosomal Dominant 56 13
Factor 11 Deficiency 25 73
Rosenthal's Disease 12 25
Factor Xi Deficiency, Autosomal Recessive 56
Factor Xi Deficiency, Congenital 74
Deficiency, Factor Xi 39
Haemophilia C 25
Fa11d 73

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 56 612416
KEGG 36 H00938
ICD9CM 34 286.2
MeSH 43 D005173
NCIt 49 C84705
SNOMED-CT 67 49762007
ICD10 32 D68.1
ICD10 via Orphanet 33 D68.1
UMLS via Orphanet 72 C0015523
Orphanet 58 ORPHA329
MedGen 41 C0015523
UMLS 71 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 hemophilia 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, heart and thyroid, and related phenotypes are prolonged partial thromboplastin time and prolonged bleeding after dental extraction

Disease Ontology : 12 An inherited 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.

NIH Rare Diseases : 52 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 : 56 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 : 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 : 73 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 : 74 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 422)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.9 F9 F8 F7
2 thrombasthenia 30.1 F5 F3 F2
3 atrial heart septal defect 30.0 SERPINC1 F3 F2
4 placenta disease 30.0 SERPINC1 F5 F3 F2
5 dysfibrinogenemia, congenital 29.7 THBD SERPINC1 F5 F2
6 carotid artery occlusion 29.6 THBD F8 F5 F11
7 pulmonary hypertension 29.5 VWF THBD SERPINC1 F3 F2
8 hemophilia a 29.4 VWF F9 F8 F7 F3
9 polycythemia vera 29.2 VWF THBD F5 F2
10 hypothyroidism 29.2 VWF F9 F8 F3 F2
11 purpura 29.1 VWF THBD SERPINC1 F3 F2
12 von willebrand's disease 29.0 VWF F9 F8 F5 F3 F2
13 cardiovascular system disease 28.9 VWF THBD SERPINC1 F7 F3
14 acquired hemophilia 28.9 F9 F8 F5 F3 F11 F10
15 bernard-soulier syndrome 28.8 VWF F9 F8 F7 F2
16 thrombophilia due to thrombin defect 28.7 THBD SERPINC1 F8 F5 F3 F2
17 factor xii deficiency 28.7 VWF SERPINC1 F9 F5 F3 F12
18 glanzmann thrombasthenia 28.5 VWF F9 F8 F3 F2 F10
19 factor vii deficiency 28.4 SERPINC1 F9 F8 F7 F3 F2
20 antiphospholipid syndrome 28.4 VWF THBD SERPINC1 F5 F3 F2
21 acute myocardial infarction 28.3 VWF THBD SERPINC1 F7 F3 F10
22 pre-eclampsia 28.2 VWF THBD SERPINC1 F8 F5 F3
23 hemarthrosis 28.1 VWF F9 F8 F7 F3 F2
24 thrombocytopenia 27.8 VWF THBD SERPINC1 F9 F5 F3
25 factor viii deficiency 27.8 VWF F9 F8 F7 F5 F3
26 stroke, ischemic 27.6 VWF THBD SERPINC1 F7 F5 F3
27 hemophilia b 27.4 VWF SERPINC1 F9 F8 F7 F3
28 hemorrhagic disease 27.4 VWF THBD SERPINC1 F9 F8 F7
29 pulmonary embolism 27.4 VWF THBD SERPINC1 F9 F8 F5
30 disseminated intravascular coagulation 26.7 VWF THBD SERPINC1 F9 F7 F5
31 hypertension, essential 26.6 VWF THBD SERPINC1 F7 F3 F2
32 thrombosis 26.6 VWF THBD SERPINC1 F9 F8 F7
33 thrombophilia 26.5 VWF THBD SERPINC1 F9 F8 F7
34 blood coagulation disease 26.0 VWF THBD SERPINC1 F9 F8 F7
35 myocardial infarction 25.3 VWF THBD SERPINC1 F9 F8 F7
36 melkersson-rosenthal syndrome 12.9
37 orofacial granulomatosis 11.6
38 facial paralysis 10.8
39 cheilitis 10.7
40 fissured tongue 10.7
41 hydrops, lactic acidosis, and sideroblastic anemia 10.6
42 rare hemorrhagic disorder 10.5
43 gastric hemangioma 10.5 F3 F2
44 renal pelvis squamous cell carcinoma 10.5 F3 F2
45 emphysematous cholecystitis 10.4 F3 F2
46 vulvar angiokeratoma 10.4 SERPINC1 F3
47 crohn's disease 10.4
48 femoral neuropathy 10.4 F3 F2
49 lemierre's syndrome 10.4 F3 F2
50 lateral sinus thrombosis 10.4 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:

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 prolonged bleeding after dental extraction 58 31 hallmark (90%) Very frequent (99-80%) HP:0006298
3 reduced factor xi activity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001929
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

MGI Mouse Phenotypes related to Factor Xi Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 CCR5 CD4 CPB2 F10 F11 F12
2 cardiovascular system MP:0005385 10.11 CCR5 F10 F11 F2 F3 F5
3 hematopoietic system MP:0005397 10.02 CCR5 CD4 F11 F2 F3 F8
4 immune system MP:0005387 9.9 CCR5 CD4 CPB2 F11 F2 F3
5 mortality/aging MP:0010768 9.8 CCR5 CD4 CPB2 F10 F11 F2
6 nervous system MP:0003631 9.32 CCR5 CD4 F11 F12 F2 F3

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 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Unknown status NCT03273998
3 The Influence of the Proteins of the Contact Activation System on Thrombus Formation in Human Blood Unknown status NCT02785718
4 Assesment of Quality of Life by Functional Independance Score in Hemophilia Patients Not yet recruiting NCT04102046
5 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

Anatomical Context for Factor Xi Deficiency

MalaCards organs/tissues related to Factor Xi Deficiency:

40
Skin, Heart, Thyroid, Colon, Tongue, Liver, Lung

Publications for Factor Xi Deficiency

Articles related to Factor Xi Deficiency:

(show top 50) (show all 526)
# 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 56 6
11895778 2002
2
Heterozygous factor XI deficiency associated with three novel mutations. 61 56 6
10606881 1999
3
Factor XI deficiency in the French Basque Country. 61 56 6
10444286 1999
4
Six point mutations that cause factor XI deficiency. 61 56 6
7888672 1995
5
Factor XI deficiency in Ashkenazi Jews in Israel. 61 56 6
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 56 6
2813350 1989
7
Factor XI Deficiency. 61 56
19598070 2009
8
Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain. 61 6
15026311 2004
9
Severe factor XI deficiency caused by compound heterozygosity. 61 6
15180874 2004
10
Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. 61 56
12586617 2003
11
Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. 61 6
9401068 1997
12
Identification of two novel mutations in non-Jewish factor XI deficiency. 61 6
7669672 1995
13
Factor XI deficiency acquired by liver transplantation. 61 56
1952475 1991
14
Factor XI deficiency: genetic and clinical studies of a single kindred. 61 56
3369441 1988
15
Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. 61 56
3553944 1987
16
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. 61 56
3086578 1986
17
Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. 61 56
3871646 1985
18
Factor XI deficiency in an Arab Moslem family in Israel. 61 56
6701468 1984
19
Plasma thromboplastin antecedent (Factor XI) deficiency in a black family. 61 56
7235815 1981
20
Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. 61 56
985704 1976
21
The prevalence of plasma thromboplastin antecedent (PTA, factor XI) deficiency. 61 56
4416433 1974
22
Canine factor XI (plasma thromboplastin antecedent) deficiency. 61 56
5166932 1971
23
[Partial familial factor XI deficiency]. 61 56
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. 56
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. 6
15953011 2005
26
Expression of human blood coagulation factor XI: characterization of the defect in factor XI type III deficiency. 6
1547342 1992
27
Identification of a defective factor XI cross-reacting material in a factor XI-deficient patient. 56
2439152 1987
28
The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. 56
13739555 1961
29
Plasma thromboplastin antecedent (PTA) deficiency; clinical, coagulation, therapeutic and hereditary aspects of a new hemophilia-like disease. 56
13230164 1955
30
New hemophilia-like disease caused by deficiency of a third plasma thromboplastin factor. 56
13037836 1953
31
Lower doses of rFVIIa therapy are safe and effective for surgical interventions in patients with severe FXI deficiency and inhibitors. 54 61
19486172 2009
32
A case of factor XI deficiency caused by compound heterozygous F11 gene mutation. 54 61
19347998 2009
33
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 54 61
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. 54 61
18832909 2008
35
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. 54 61
18515884 2008
36
Characterisation of five factor XI mutations. 54 61
17549289 2007
37
Inherited factor XI deficiency: a concise review. 54 61
17607578 2006
38
Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency. 54 61
16607084 2006
39
Preoperative screening for coagulopathy using prothrombin time and partial thromboplastin time in patients requiring primary cranial vault remodeling. 54 61
16079661 2005
40
Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. 54 61
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). 54 61
15842381 2005
42
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? 54 61
15823864 2005
43
[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. 54 61
15946525 2005
44
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. 54 61
15531455 2004
45
High prevalence of acquired von Willebrand's syndrome in patients with thyroid diseases undergoing thyroid surgery. 54 61
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. 54 61
15456490 2004
47
[FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency]. 54 61
15182578 2004
48
Platelet functional defects in women with unexplained menorrhagia. 54 61
12871453 2003
49
Fresh frozen plasma in the pediatric age group and in congenital coagulation factor deficiency. 54 61
12379290 2002
50
Clinical and laboratory features of 178 children with recurrent epistaxis. 54 61
11902740 2002

Variations for Factor Xi Deficiency

ClinVar genetic disease variations for Factor Xi Deficiency:

6 (show top 50) (show all 167) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F11 NM_000128.3(F11):c.1716+1G>ASNV Pathogenic 11890 rs373297713 4:187208978-187208978 4:186287824-186287824
2 F11 NM_000128.3(F11):c.403G>T (p.Glu135Ter)SNV Pathogenic 11891 rs121965063 4:187195347-187195347 4:186274193-186274193
3 F11 NM_000128.3:c.1029-2A>GSNV Pathogenic 11893 4:187201626-187201626 4:186280472-186280472
4 F11 NM_001354804.2(F11):c.*1G>CSNV Pathogenic 11894 4:187195434-187195434 4:186274280-186274280
5 F11 NM_000128.3(F11):c.1378T>G (p.Phe460Val)SNV Pathogenic 11895 rs121965065 4:187206865-187206865 4:186285711-186285711
6 F11 NM_000128.3(F11):c.1289C>T (p.Ala430Val)SNV Pathogenic 11899 rs121965068 4:187205399-187205399 4:186284245-186284245
7 F11 NM_000128.3(F11):c.1782C>A (p.Ser594Arg)SNV Pathogenic 11900 rs28934609 4:187209672-187209672 4:186288518-186288518
8 F11 NM_000128.3(F11):c.1211C>A (p.Thr404Asn)SNV Pathogenic 11897 rs121965067 4:187205321-187205321 4:186284167-186284167
9 F11 NM_000128.3(F11):c.1760G>C (p.Trp587Ser)SNV Pathogenic 11904 rs121965072 4:187209650-187209650 4:186288496-186288496
10 F11 F11, DELdeletion Pathogenic 11905
11 F11 NM_000128.3(F11):c.1288G>A (p.Ala430Thr)SNV Pathogenic 291081 rs753909969 4:187205398-187205398 4:186284244-186284244
12 F11 NM_000128.3(F11):c.326-1G>ASNV Pathogenic 371555 rs1057517364 4:187195269-187195269 4:186274115-186274115
13 F11 NM_000128.3(F11):c.841C>T (p.Gln281Ter)SNV Pathogenic 449563 rs770505620 4:187201251-187201251 4:186280097-186280097
14 F11 NM_000128.3(F11):c.365G>A (p.Gly122Asp)SNV Pathogenic 627202 4:187195309-187195309 4:186274155-186274155
15 F11 NM_000128.3(F11):c.802C>T (p.Arg268Cys)SNV Pathogenic 627142 4:187201212-187201212 4:186280058-186280058
16 F11 NM_000128.3(F11):c.1234C>T (p.Gln412Ter)SNV Pathogenic/Likely pathogenic 554679 rs538083600 4:187205344-187205344 4:186284190-186284190
17 F11 NM_000128.3(F11):c.755+2T>CSNV Pathogenic/Likely pathogenic 552888 rs1220869989 4:187197546-187197546 4:186276392-186276392
18 F11 NM_000128.3(F11):c.1136-7_1136-4deldeletion Pathogenic/Likely pathogenic 555987 rs1439195599 4:187205239-187205242 4:186284085-186284088
19 F11 NM_000128.3(F11):c.1247G>A (p.Cys416Tyr)SNV Pathogenic/Likely pathogenic 371565 rs779802284 4:187205357-187205357 4:186284203-186284203
20 F11 NM_000128.3(F11):c.1489C>T (p.Arg497Ter)SNV Pathogenic/Likely pathogenic 280137 rs375422404 4:187207577-187207577 4:186286423-186286423
21 F11 NM_000128.3(F11):c.1432G>A (p.Gly478Arg)SNV Pathogenic/Likely pathogenic 285379 rs542967227 4:187206919-187206919 4:186285765-186285765
22 F11 NM_000128.3(F11):c.901T>C (p.Phe301Leu)SNV Pathogenic/Likely pathogenic 11892 rs121965064 4:187201412-187201412 4:186280258-186280258
23 F11 NM_000128.3(F11):c.1556G>A (p.Trp519Ter)SNV Pathogenic/Likely pathogenic 188887 rs201007090 4:187207644-187207644 4:186286490-186286490
24 F11 NM_000128.3(F11):c.408C>A (p.Cys136Ter)SNV Pathogenic/Likely pathogenic 188914 rs143648758 4:187195352-187195352 4:186274198-186274198
25 F11 NM_000128.3(F11):c.67C>T (p.Gln23Ter)SNV Pathogenic/Likely pathogenic 189122 rs768409400 4:187192774-187192774 4:186271620-186271620
26 F11 NM_000128.3(F11):c.1107C>A (p.Tyr369Ter)SNV Pathogenic/Likely pathogenic 189115 rs773905328 4:187201706-187201706 4:186280552-186280552
27 F11 NM_000128.3(F11):c.1186C>T (p.Arg396Cys)SNV Likely pathogenic 188760 rs771896253 4:187205296-187205296 4:186284142-186284142
28 F11 NM_000128.3(F11):c.1313C>A (p.Ser438Ter)SNV Likely pathogenic 189138 rs786204724 4:187206800-187206800 4:186285646-186285646
29 F11 NM_000128.3(F11):c.325G>A (p.Ala109Thr)SNV Likely pathogenic 188810 rs768474112 4:187194331-187194331 4:186273177-186273177
30 F11 NM_000128.3(F11):c.682C>T (p.Arg228Ter)SNV Likely pathogenic 188795 rs752907087 4:187197471-187197471 4:186276317-186276317
31 F11 NM_000128.3(F11):c.730C>T (p.Gln244Ter)SNV Likely pathogenic 189094 rs747702749 4:187197519-187197519 4:186276365-186276365
32 F11 NM_000128.3(F11):c.751C>T (p.Gln251Ter)SNV Likely pathogenic 188920 rs754087775 4:187197540-187197540 4:186276386-186276386
33 F11 NM_000128.3(F11):c.908del (p.Gly303fs)deletion Likely pathogenic 189129 rs786204722 4:187201417-187201417 4:186280263-186280263
34 F11 NM_000128.3(F11):c.961_962delTGshort repeat Likely pathogenic 188757 rs786204449 4:187201470-187201471 4:186280316-186280317
35 F11 NM_000128.3(F11):c.1075del (p.Ile359fs)deletion Likely pathogenic 188727 rs786204429 4:187201671-187201671 4:186280517-186280517
36 F11 NM_000128.3(F11):c.1613C>T (p.Pro538Leu)SNV Likely pathogenic 189154 rs139695003 4:187208874-187208874 4:186287720-186287720
37 F11 NM_000128.3(F11):c.438C>A (p.Cys146Ter)SNV Likely pathogenic 11896 rs121965066 4:187195382-187195382 4:186274228-186274228
38 F11 NM_000128.3(F11):c.976C>T (p.Arg326Cys)SNV Likely pathogenic 11898 rs28934608 4:187201487-187201487 4:186280333-186280333
39 F11 NM_000128.3(F11):c.166T>C (p.Cys56Arg)SNV Likely pathogenic 11901 rs121965069 4:187192873-187192873 4:186271719-186271719
40 F11 NM_000128.3(F11):c.1693G>A (p.Glu565Lys)SNV Likely pathogenic 68186 rs281875275 4:187208954-187208954 4:186287800-186287800
41 F11 NM_000128.3(F11):c.1724C>T (p.Ser575Leu)SNV Likely pathogenic 68187 rs281875250 4:187209614-187209614 4:186288460-186288460
42 F11 NM_000128.3(F11):c.1253G>T (p.Gly418Val)SNV Likely pathogenic 11903 rs121965071 4:187205363-187205363 4:186284209-186284209
43 F11 NM_000128.3(F11):c.664G>T (p.Asp222Tyr)SNV Likely pathogenic 68195 rs281875245 4:187197453-187197453 4:186276299-186276299
44 F11 NM_000128.3(F11):c.943G>A (p.Glu315Lys)SNV Likely pathogenic 68204 rs281875257 4:187201454-187201454 4:186280300-186280300
45 F11 NM_000128.3(F11):c.1305-1G>ASNV Likely pathogenic 371352 rs1057517204 4:187206791-187206791 4:186285637-186285637
46 F11 NM_000128.3(F11):c.1390C>T (p.Gln464Ter)SNV Likely pathogenic 371138 rs1057517035 4:187206877-187206877 4:186285723-186285723
47 F11 NM_000128.3(F11):c.486-2A>GSNV Likely pathogenic 370695 rs1057516695 4:187196939-187196939 4:186275785-186275785
48 F11 NM_000128.3(F11):c.596-7_600deldeletion Likely pathogenic 371238 rs1057517116 4:187197376-187197387 4:186276222-186276233
49 F11 NM_000128.3(F11):c.964_965del (p.Thr322fs)deletion Likely pathogenic 370362 rs1057516431 4:187201474-187201475 4:186280320-186280321
50 F11 NM_000128.3(F11):c.1232_1235del (p.Thr411fs)deletion Likely pathogenic 371658 rs1057517446 4:187205340-187205343 4:186284186-186284189

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

73 (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
13.11 VWF THBD SERPINC1 F9 F8 F7
2
Show member pathways
12.46 THBD SERPINC1 F9 F8 F7 F5
3
Show member pathways
12.14 VWF THBD SERPINC1 F9 F8 F7
4
Show member pathways
11.7 F9 F7 F2 F10
5 11.6 VWF THBD SERPINC1 F9 F8 F7
6 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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 THBD SERPINC1 F9 F8 F7 F5
2 extracellular region GO:0005576 9.93 VWF SERPINC1 F9 F8 F7 F5
3 collagen-containing extracellular matrix GO:0062023 9.8 VWF SERPINC1 F9 F7 F3 F2
4 extracellular space GO:0005615 9.73 THBD SERPINC1 F9 F8 F7 F5
5 Golgi lumen GO:0005796 9.67 F9 F7 F2 F10
6 platelet alpha granule lumen GO:0031093 9.63 VWF F8 F5
7 platelet alpha granule GO:0031091 9.48 VWF F5
8 intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10
9 serine-type peptidase complex GO:1905286 9.4 F7 F3
10 endoplasmic reticulum lumen GO:0005788 9.23 SERPINC1 F9 F8 F7 F5 F2

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.98 F9 F7 F2 F12 F11 F10
2 platelet degranulation GO:0002576 9.77 VWF F8 F5
3 hemostasis GO:0007599 9.77 VWF THBD SERPINC1 F9 F8 F7
4 platelet activation GO:0030168 9.76 VWF F8 F2
5 ER to Golgi vesicle-mediated transport GO:0006888 9.73 F9 F8 F7 F5 F2 F10
6 protein processing GO:0016485 9.71 F7 F3 F12
7 fibrinolysis GO:0042730 9.65 F2 F12 CPB2
8 positive regulation of blood coagulation GO:0030194 9.63 F7 F2 F12
9 blood coagulation, intrinsic pathway GO:0007597 9.63 VWF F9 F8 F2 F12 F11
10 zymogen activation GO:0031638 9.59 F9 F12
11 positive regulation of positive chemotaxis GO:0050927 9.58 F7 F3
12 regulation of blood coagulation GO:0030193 9.58 SERPINC1 F2 F11
13 response to cholesterol GO:0070723 9.57 F7 CCR5
14 negative regulation of platelet activation GO:0010544 9.56 THBD F2
15 fusion of virus membrane with host plasma membrane GO:0019064 9.55 CD4 CCR5
16 negative regulation of fibrinolysis GO:0051918 9.54 THBD F2 CPB2
17 positive regulation of fibrinolysis GO:0051919 9.52 F12 F11
18 entry into host cell GO:0030260 9.51 CD4 CCR5
19 blood coagulation, extrinsic pathway GO:0007598 9.5 F7 F3 F10
20 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.49 F7 F3
21 blood coagulation GO:0007596 9.44 VWF THBD SERPINC1 F9 F8 F7

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 9.91 F9 F7 F2 F12 F11 F10
2 calcium ion binding GO:0005509 9.73 THBD F9 F7 F2 F12 F10
3 peptidase activity GO:0008233 9.7 F9 F7 F2 F12 F11 F10
4 protease binding GO:0002020 9.58 VWF SERPINC1 F3
5 serine-type peptidase activity GO:0008236 9.43 F9 F7 F2 F12 F11 F10
6 immunoglobulin binding GO:0019865 9.32 VWF CD4
7 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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