MCID: FCT002
MIFTS: 64

Factor Xi Deficiency malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories

Summaries for Factor Xi Deficiency

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Haemophilia C is a mild form of haemophilia affecting both sexes. However, it predominantly occurs in... more...

MalaCards: Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to pulmonary embolism and lupus erythematosus. An important gene associated with Factor Xi Deficiency is F11 (coagulation factor XI), and among its related pathways are MSP-RON Signaling and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. The compounds inogatran and ecarin have been mentioned in the context of this disorder. Affiliated tissues include liver, colon and brain, and related mouse phenotypes are liver/biliary system and embryogenesis.

Description from OMIM:48 612416

Aliases & Classifications for Factor Xi Deficiency

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 21GeneTests, 23GTR, 11DISEASES, 46Novoseek, 63UMLS, 28ICD9CM, 41NCIt, 36MeSH, 59SNOMED-CT, 48OMIM, 26ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

factor xi deficiency 9 44 21 11 46 63
plasma thromboplastin antecedent deficiency 9 44
hereditary factor xi deficiency disease 9 23
factor xi deficiency, congenital 44
congenital factor xi deficiency 9
rosenthal's disease 9
rosenthal syndrome 44
f11 deficiency 44
pta deficiency 44
hemophilia c 9


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Disease Ontology9 DOID:2229
ICD9CM28 286.2
NCIt41 C84705
SNOMED-CT59 49762007
OMIM48 612416
ICD1026 D68.1

Related Diseases for Factor Xi Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Factor Xi Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary embolism30.5F2, F3, F5, F9
2lupus erythematosus30.4F5, F2, F3, THBD
3hemarthrosis30.4F8, VWF, F9, F3
4factor xii deficiency30.3F5, F3
5systemic lupus erythematosus30.3THBD, F3, VWF, F8, F2
6von willebrand's disease30.2F5, F7, F8, F3, F2, VWF
7myocardial infarction30.2F3, F7, F9, F5, VWF, F11
8bernard-soulier syndrome30.1F2, VWF, F9, F8
9acute myocardial infarction30.1VWF, THBD, F3, F7
10thromboembolism30.0F2, VWF, THBD, F9, F11, F12
11factor viii deficiency29.9F2, VWF, F9, F11, F3, F8
12thrombophilia29.7F2, VWF, THBD, F9, F11, F12
13melkersson-rosenthal syndrome11.2
14cheilitis10.7
15factor xi deficiency, autosomal recessive10.5
16crohn's disease10.5
17hemophilia10.4
18xeroderma pigmentosum10.4
19cataract10.3
20colon cancer10.3
21factor xi deficiency, autosomal dominant10.3
22vulvitis10.3
23sarcoidosis10.3
24multiple cranial nerve palsy10.2
25cranial nerve palsy10.2
26ehlers-danlos syndrome10.2
27leprosy10.2
28tuberculosis10.2
29headache10.2
30gaucher's disease10.1
31membranoproliferative glomerulonephritis10.1
32leukocyte adhesion deficiency10.1
33juvenile rheumatoid arthritis10.1
34myositis ossificans10.1
35prader-willi syndrome10.1
36carotid artery occlusion10.1
37listeriosis10.1
38fibrous histiocytoma10.1
39noonan syndrome10.1
40cerebritis10.1
41arthritis10.1
42cervicitis10.1
43ectropion10.1
44glaucoma10.1
45glomerulonephritis10.1
46histiocytoma10.1
47lung cancer10.1
48myositis10.1
49retinitis10.1
50rheumatoid arthritis10.1

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



Diseases related to factor xi deficiency

Symptoms for Factor Xi Deficiency

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48OMIM
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Clinical features from OMIM:

612416

Drugs & Therapeutics for Factor Xi Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Factor Xi Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xi Deficiency

Search NIH Clinical Center for Factor Xi Deficiency

Search CenterWatch for Factor Xi Deficiency

Genetic Tests for Factor Xi Deficiency

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21GeneTests, 23GTR
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Genetic tests related to Factor Xi Deficiency:

id Genetic test Affiliating Genes
1 Factor Xi Deficiency21 F11
2 Hereditary Factor Xi Deficiency Disease23

Anatomical Context for Factor Xi Deficiency

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34MalaCards
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MalaCards organs/tissues related to Factor Xi Deficiency:

34
Liver, Colon, Brain, Lung, Testes, Heart, Thyroid

Animal Models for Factor Xi Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Factor Xi Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9F5, F11, F9, THBD
2MP:00053808.4F2, THBD, F9, F3, F5
3MP:00028737.9F2, THBD, F12, F3, F7
4MP:00036317.5F2, VWF, THBD, F11, F12, F3
5MP:00053977.4F2, VWF, THBD, F9, F11, F3
6MP:00053877.3F2, VWF, THBD, F9, F11, F3
7MP:00053857.2F2, VWF, THBD, F9, F11, F3
8MP:00107686.4F2, VWF, THBD, F9, F11, F3
9MP:00053766.0F7, F2, VWF, THBD, F9, F11

Publications for Factor Xi Deficiency

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Sources:
53PubMed
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Articles related to Factor Xi Deficiency:

(show top 50)    (show all 261)
idTitleAuthorsYear
1
Congenital factor XI deficiency: an update. (23929304)
2013
2
Peripartum anesthetic management of patients with Factor XI deficiency. (24096436)
2013
3
Factor XI-deficient mice display reduced inflammation, coagulopathy, and bacterial growth during listeriosis. (22006565)
2012
4
Acquired agranulocytosis and factor XI deficiency in association with thymoma. (21537052)
2011
5
The role of recombinant factor VIIa for obstetric block in women with severe factor XI deficiency. (21453421)
2011
6
Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. (21192253)
2011
7
Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. (21057700)
2011
8
Intraneural hematoma after nerve stimulation-guided femoral block in a patient with factor XI deficiency: case report. (21570619)
2011
9
Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey. (20929557)
2010
10
Factor XI deficiency: two novel mutations in asymptomatic Italian patients. (20491955)
2010
11
The obstetric experience of women with factor XI deficiency. (19685354)
2009
12
Factor XI deficiency--resolving the enigma? (20008187)
2009
13
Percutaneous coronary intervention in a patient with factor XI deficiency. (19726832)
2009
14
Use of recombinant factor VIIa for hip replacement surgery in a patient with severe factor XI deficiency and drug-induced platelet defect. (18582229)
2008
15
Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. (18268095)
2008
16
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. (18327400)
2008
17
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. (18515884)
2008
18
Liver transplantation for factor XI deficiency: cure before diagnosis. (18336546)
2008
19
A novel mutation (Gln433Glu) in exon 12 combined with the G insertion in exon 13 causes severe factor XI deficiency in Japanese patients. (17581330)
2007
20
An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency. (16643205)
2006
21
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. (16330457)
2005
22
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
23
Effects of factor IX or factor XI deficiency on ferric chloride-induced carotid artery occlusion in mice. (15733058)
2005
24
What dose of recombinant activated factor VII should be used in patients with factor XI deficiency? (16011604)
2005
25
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). (16079124)
2005
26
Cerebellar hemorrhage due to factor XI deficiency. (15637437)
2005
27
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. (15531455)
2004
28
Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. (14717969)
2004
29
More information on patients with factor XI deficiency. (15505483)
2004
30
Factor XI deficiency presenting in pregnancy: diagnosis and management. (12135224)
2002
31
Severe intraabdominal bleeding after transvaginal oocyte retrieval for IVF-ET and coagulation factor XI deficiency: a case report. (11411435)
2001
32
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. (11122101)
2000
33
Factor XI deficiency-related spontaneous primary intraventricular hemorrhage. (11147466)
2000
34
A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription. (10730000)
2000
35
Heterozygous factor XI deficiency associated with three novel mutations. (10606881)
1999
36
Factor XI deficiency: implications for management of patients undergoing aesthetic surgery. (10541197)
1999
37
Recurrent venous thromboembolic disease and factor XI concentrate in a patient with severe factor XI deficiency, chronic myelomonocytic leukaemia, factor V Leiden and heterozygous plasminogen deficiency. (9391725)
1997
38
Factor XI deficiency. (8236117)
1993
39
Management of an orthognathic surgery patient with factor XI deficiency: review and case report. (8450361)
1993
40
Management of factor XI deficiency in coronary artery bypass graft surgery by plasmapheresis and exchange transfusion. (2519947)
1989
41
Transfer of congenital factor XI deficiency from a donor to a recipient by liver transplantation. (3553944)
1987
42
Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. (3086578)
1986
43
Management of factor XI deficiency in gynecologic and obstetric patients. (3487757)
1986
44
The factor of factor XI deficiency in thyroid neoplasia. (3787461)
1986
45
Spontaneous hematomyelia secondary to factor XI deficiency. Case report. (4020452)
1985
46
Acquired antibody to factor XI in a patient with congenital factor XI deficiency. (6979552)
1982
47
Plasma thromboplastin antecedent (Factor XI) deficiency in a black family. (7235815)
1981
48
Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazic Jews and the value of activated partial thromboplastin time in its detection. (7263201)
1981
49
Factor XI deficiency. (578533)
1977
50
The enigma of severe factor XI deficiency without hemmorrhagic symptoms. Distinction from Hageman factor and "Fletcher factor" deficiency; family study; and problems of diagnosis. (5590232)
1967

Variations for Factor Xi Deficiency

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Factor Xi Deficiency:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1F11NM_000128.3(F11): c.403G> T (p.Glu135Ter)single nucleotide variantPathogenicrs121965063GRCh37Chr 4, 187195347: 187195347
2F11NM_000128.3(F11): c.901T> C (p.Phe301Leu)single nucleotide variantPathogenicrs121965064GRCh37Chr 4, 187201412: 187201412
3F11NM_000128.3(F11): c.1378T> G (p.Phe460Val)single nucleotide variantPathogenicrs121965065GRCh37Chr 4, 187206865: 187206865
4F11NM_000128.3(F11): c.438C> A (p.Cys146Ter)single nucleotide variantPathogenicrs121965066GRCh37Chr 4, 187195382: 187195382
5F11NM_000128.3(F11): c.1211C> A (p.Thr404Asn)single nucleotide variantPathogenicrs121965067GRCh37Chr 4, 187205321: 187205321
6F11NM_000128.3(F11): c.976C> T (p.Arg326Cys)single nucleotide variantPathogenicrs28934608GRCh37Chr 4, 187201487: 187201487
7F11NM_000128.3(F11): c.1289C> T (p.Ala430Val)single nucleotide variantPathogenicrs121965068GRCh37Chr 4, 187205399: 187205399
8NM_000128.3(F11): c.1782C> A (p.Ser594Arg)single nucleotide variantPathogenicrs28934609GRCh37Chr 4, 187209672: 187209672
9F11NM_000128.3(F11): c.166T> C (p.Cys56Arg)single nucleotide variantPathogenicrs121965069GRCh37Chr 4, 187192873: 187192873
10F11NM_000128.3(F11): c.809A> T (p.Lys270Ile)single nucleotide variantPathogenicrs121965070GRCh37Chr 4, 187201219: 187201219
11F11NM_000128.3(F11): c.1253G> T (p.Gly418Val)single nucleotide variantPathogenicrs121965071GRCh37Chr 4, 187205363: 187205363
12NM_000128.3(F11): c.1760G> C (p.Trp587Ser)single nucleotide variantPathogenicrs121965072GRCh37Chr 4, 187209650: 187209650

Expression for genes affiliated with Factor Xi Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor Xi Deficiency

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

Pathways for genes affiliated with Factor Xi Deficiency

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Sources:
51PathCards, 54QIAGEN, 52PharmGKB, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 55R&D Systems
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Pathways related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7F12, F11
29.6VWF, F2
3
Show member pathways
9.6F2, VWF
4
Show member pathways
9.2F2, F9, F7
5
Show member pathways
8.7F5, F8, VWF
6
Show member pathways
6.3F2, F7, F5, F8, F3, F12
7
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
5.8F5, F8, F3, F12, F11, F9
8
Show member pathways
5.8THBD, F9, F11, F12, F3, F8
9
Show member pathways
5.8F2, VWF, THBD, F9, F11, F12

Compounds for genes affiliated with Factor Xi Deficiency

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 3BitterDB, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1inogatran469.6F5, F2, F3
2ecarin469.5F3, F2, F5
3heparin sodium469.5F2, THBD, F3
4acenocoumarol46 52 1211.4F2, F9, F5, F3
5hirugen469.4THBD, F2, F5
6coumarins469.4F9, F5, F2, F3
7spectrozyme469.3F3, F2, F5
8coumarin46 3 52 2512.2F3, F9, F2, F5
9ximelagatran46 1210.2F3, F2, THBD, F5
10heparinoids469.2THBD, F3, F5, F2
11bivalirudin46 1210.2F2, F3, F5, THBD
12argatroban46 1210.1F5, F3, THBD, F2
13tributylphosphate469.1VWF, F9, F8
14dextran sulfate469.1F3, F5, F11, F9
15danaparoid469.0F2, F5, F3
16levonorgestrel46 62 30 1212.0F5, F7, F2, F3
17fondaparinux468.9F5, THBD, F3, F9, F2
18rfviii468.8VWF, F5, F8, F9
19hydroxyethyl starch468.7VWF, F2, F8, F3
20phosphatidylethanolamine46 129.7F2, F9, F8, F5
21simvastatin46 52 62 30 25 1213.5VWF, F5, F3, F2, THBD
22tranexamic acid46 129.5F8, F9, VWF, F3, F2
23cacl2468.5F3, F8, F5, F9, THBD
24cardiolipin46 129.4F5, F3, THBD, F8, F2
25acetaminophen46 3 52 25 1212.3F9, F2, VWF, F8, F5
26gamma-carboxyglutamic acid468.3F2, THBD, F9, F3, F5, F7
27kaolin468.2F3, F8, F5, F12, F2, F9
28aprotinin46 129.1F5, F3, F11, F9, THBD, VWF
29endotoxin468.1F11, F5, F8, F3, F9, THBD
30dermatan sulfate468.1F5, F3, F11, F9, THBD, VWF
31prostacyclin468.0F3, F8, F5, VWF, THBD
32phosphatidylcholine467.9F5, THBD, F2, F8, F9
33cyclophosphamide46 52 129.9F8, VWF, F9, F5, THBD, F3
34ristocetin467.8F2, VWF, F9, F11, F3, F8
35citrate467.6THBD, F3, F2, F5, VWF, F9
36phosphatidylserine46 30 129.6F2, THBD, F9, F3, F8, F5
37aspirin46 52 30 2510.4F5, THBD, VWF, F2, F12, F3
38alanine467.4THBD, F3, F8, F5, F9, VWF
39desmopressin46 62 30 1210.3F11, F3, F8, F5, F9, THBD
40homocysteine46 258.3F2, VWF, THBD, F9, F11, F3
41hirudin467.3F8, F3, F9, THBD, VWF, F2
42phospholipid467.3F3, F9, F11, THBD, VWF, F2
43estrogen467.1THBD, VWF, F9, F2, F12, F8
44kininogen467.0THBD, F9, F11, F12, F3, F5
45warfarin46 52 25 1210.0F7, F5, F8, F3, F9, THBD
46creatinine466.9F7, F8, F9, THBD, F3, VWF
47aspartate466.9F8, F7, F5, F3, F2, VWF
48heparin46 30 25 129.8THBD, F9, F12, VWF, F2, F8
49fibrinogen466.2F2, VWF, THBD, F9, F11, F12
50serine466.2F7, F5, F2, F8, F3, F12

GO Terms for genes affiliated with Factor Xi Deficiency

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17Gene Ontology
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Cellular components related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.2F2, F7, F9
2Golgi lumenGO:0057968.9F2, F9, F7
3platelet alpha granule lumenGO:0310938.6F5, F8, VWF
4extracellular spaceGO:0056156.7F11, F2, THBD, F12, F3, F8
5extracellular regionGO:0055766.7F7, F2, F5, F8, F12, F11
6plasma membraneGO:0058866.3F3, F8, F5, F7, F11, F9

Biological processes related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of fibrinolysisGO:0519199.9F12, F11
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.8F7, F3
3negative regulation of platelet activationGO:0105449.8THBD, F2
4negative regulation of fibrinolysisGO:0519189.7THBD, F2
5fibrinolysisGO:0427309.7F12, F2
6positive regulation of positive chemotaxisGO:0509279.6F3, F7
7response to woundingGO:0096119.6VWF, F2
8blood coagulation, extrinsic pathwayGO:0075989.5F7, F3, F9
9peptidyl-glutamic acid carboxylationGO:0171879.4F2, F9, F7
10positive regulation of blood coagulationGO:0301949.3F7, F12, F2
11proteolysisGO:0065089.2F7, F9, F2
12post-translational protein modificationGO:0436879.1F2, F9, F7
13acute-phase responseGO:0069539.0F8, F2
14platelet degranulationGO:0025768.9VWF, F8, F5
15platelet activationGO:0301688.6F2, VWF, F8, F5
16blood coagulation, intrinsic pathwayGO:0075978.0F2, VWF, F9, F11, F12, F8
17blood coagulationGO:0075966.1F7, F2, VWF, THBD, F5, F8

Molecular functions related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type aminopeptidase activityGO:0700099.8F11, F12
2copper ion bindingGO:0055079.2F8, F5
3glycoprotein bindingGO:0019489.0VWF, F7
4calcium ion bindingGO:0055098.5F2, THBD, F9, F7
5serine-type endopeptidase activityGO:0042527.3F11, F2, F7, F5, F8, F12
6protein bindingGO:0055156.1F5, F7, F3, F12, F11, THBD

Products for genes affiliated with Factor Xi Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xi Deficiency

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet