MCID: FCT002
MIFTS: 65

Factor Xi Deficiency malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Factor Xi Deficiency

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Wikipedia:65 Haemophilia C (also known as plasma thromboplastin antecedent (PTA) deficiency or Rosenthal syndrome) is... more...

MalaCards based summary: Factor Xi Deficiency, also known as plasma thromboplastin antecedent deficiency, is related to factor xii deficiency and pulmonary embolism. 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:46 612416

Aliases & Classifications for Factor Xi Deficiency

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Factor Xi Deficiency, Aliases & Descriptions:

Name: Factor Xi Deficiency 8 42 20 10 44 62
Plasma Thromboplastin Antecedent Deficiency 8 42 62
Hereditary Factor Xi Deficiency Disease 8 22 62
Congenital Factor Xi Deficiency 8 62
Factor Xi Deficiency, Congenital 42
 
Rosenthal's Disease 8
Rosenthal Syndrome 42
F11 Deficiency 42
Pta Deficiency 42
Hemophilia C 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:2229
ICD9CM27 286.2
SNOMED-CT57 49762007
NCIt39 C84705
OMIM46 612416
ICD1025 D68.1

Related Diseases for Factor Xi Deficiency

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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 174)
idRelated DiseaseScoreTop Affiliating Genes
1factor xii deficiency30.8F3, F5
2pulmonary embolism30.5F5, F3, F9, F2
3lupus erythematosus30.4F2, THBD, F3, F5
4hemarthrosis30.2VWF, F9, F3, F8
5bernard-soulier syndrome29.9F2, VWF, F9, F8
6acute myocardial infarction29.9VWF, THBD, F3, F7
7systemic lupus erythematosus29.8F2, VWF, THBD, F3, F8
8myocardial infarction29.3VWF, F9, F11, F3, F8, F5
9von willebrand's disease29.2F2, VWF, F9, F11, F3, F8
10factor viii deficiency28.9F7, F2, VWF, F9, F11, F3
11thromboembolism28.4THBD, F9, F11, F12, F3, F8
12thrombophilia28.2F2, VWF, THBD, F9, F11, F12
13melkersson-rosenthal syndrome11.2
14cheilitis10.7
15factor xi deficiency, autosomal recessive10.5
16crohn's disease10.5
17central retinal vein occlusion10.5F5
18warfarin sensitivity10.5F9
19sagittal sinus thrombosis10.5F5
20homocysteinemia10.5F5
21patent foramen ovale10.4F5
22angiodysplasia10.4VWF
23mediterranean spotted fever10.4THBD
24hemophilia10.4
25xeroderma pigmentosum10.4
26eclampsia10.4THBD
27hemorrhagic disease10.3F9, F12
28placental abruption10.3F2, F5
29thrombophlebitis10.3F8
30prothrombin deficiency10.3F2, F5
31colon cancer10.3
32factor xi deficiency, autosomal dominant10.3
33blood protein disease10.3F2, F5
34antithrombin iii deficiency10.3F5, F2
35bilirubin metabolic disorder10.3F9, F2
36coronary thrombosis10.3F3, VWF
37scott syndrome10.3F5, F2
38cardiac tamponade10.3F8
39vulvitis10.3
40sarcoidosis10.3
41leukopenia10.2F2, F3
42meningococcemia10.2THBD, F5
43galactosemia10.2F3, F2
44hellp syndrome10.2F5, VWF
45eisenmenger syndrome10.2VWF, THBD
46collagen disease10.2THBD, VWF
47multiple cranial nerve palsy10.2
48cranial nerve palsy10.2
49ehlers-danlos syndrome10.2
50leprosy10.2

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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Clinical features from OMIM:

612416

Drugs & Therapeutics for Factor Xi Deficiency

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Drug clinical trials:

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Genetic Tests for Factor Xi Deficiency

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Genetic tests related to Factor Xi Deficiency:

id Genetic test Affiliating Genes
1 Factor Xi Deficiency20 F11
2 Hereditary Factor Xi Deficiency Disease22

Anatomical Context for Factor Xi Deficiency

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MalaCards organs/tissues related to Factor Xi Deficiency:

32
Liver, Colon, Brain, Heart, Lung, Thyroid, Testes

Animal Models for Factor Xi Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xi Deficiency:

36
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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Articles related to Factor Xi Deficiency:

(show top 50)    (show all 271)
idTitleAuthorsYear
1
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation. (25074526)
2014
2
Congenital factor XI deficiency: an update. (23929304)
2013
3
Peripartum anesthetic management of patients with Factor XI deficiency. (24096436)
2013
4
Factor XI-deficient mice display reduced inflammation, coagulopathy, and bacterial growth during listeriosis. (22006565)
2012
5
Acquired agranulocytosis and factor XI deficiency in association with thymoma. (21537052)
2011
6
The role of recombinant factor VIIa for obstetric block in women with severe factor XI deficiency. (21453421)
2011
7
Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. (21192253)
2011
8
Patients with severe factor XI deficiency have a reduced incidence of deep-vein thrombosis. (21057700)
2011
9
Intraneural hematoma after nerve stimulation-guided femoral block in a patient with factor XI deficiency: case report. (21570619)
2011
10
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
11
Factor XI deficiency: two novel mutations in asymptomatic Italian patients. (20491955)
2010
12
The obstetric experience of women with factor XI deficiency. (19685354)
2009
13
Factor XI deficiency--resolving the enigma? (20008187)
2009
14
Percutaneous coronary intervention in a patient with factor XI deficiency. (19726832)
2009
15
Use of recombinant factor VIIa for hip replacement surgery in a patient with severe factor XI deficiency and drug-induced platelet defect. (18582229)
2008
16
Reduced incidence of ischemic stroke in patients with severe factor XI deficiency. (18268095)
2008
17
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. (18327400)
2008
18
Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations. (18515884)
2008
19
Liver transplantation for factor XI deficiency: cure before diagnosis. (18336546)
2008
20
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
21
An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency. (16643205)
2006
22
A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency. (16330457)
2005
23
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
24
Effects of factor IX or factor XI deficiency on ferric chloride-induced carotid artery occlusion in mice. (15733058)
2005
25
What dose of recombinant activated factor VII should be used in patients with factor XI deficiency? (16011604)
2005
26
Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K). (16079124)
2005
27
Cerebellar hemorrhage due to factor XI deficiency. (15637437)
2005
28
Molecular genetic analysis of severe coagulation factor XI deficiency in six Italian patients. (15531455)
2004
29
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
30
More information on patients with factor XI deficiency. (15505483)
2004
31
Factor XI deficiency presenting in pregnancy: diagnosis and management. (12135224)
2002
32
Severe intraabdominal bleeding after transvaginal oocyte retrieval for IVF-ET and coagulation factor XI deficiency: a case report. (11411435)
2001
33
A factor XI deficiency associated with a nonsense mutation (Trp501stop) in the catalytic domain. (11122101)
2000
34
Factor XI deficiency-related spontaneous primary intraventricular hemorrhage. (11147466)
2000
35
A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription. (10730000)
2000
36
Heterozygous factor XI deficiency associated with three novel mutations. (10606881)
1999
37
Factor XI deficiency: implications for management of patients undergoing aesthetic surgery. (10541197)
1999
38
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
39
Factor XI deficiency. (8236117)
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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Expression for genes affiliated with Factor Xi Deficiency

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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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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 Pathway37
Complement and Coagulation Cascades37
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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Compounds related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 150)
idCompoundScoreTop Affiliating Genes
1inogatran449.6F5, F2, F3
2ecarin449.5F3, F2, F5
3heparin sodium449.5F2, THBD, F3
4acenocoumarol44 50 1111.4F2, F9, F5, F3
5hirugen449.4THBD, F2, F5
6coumarins449.4F9, F5, F2, F3
7spectrozyme449.3F3, F2, F5
8coumarin44 2 50 2412.2F3, F9, F2, F5
9ximelagatran44 1110.2F3, F2, THBD, F5
10heparinoids449.2THBD, F3, F5, F2
11bivalirudin44 1110.2F2, F3, F5, THBD
12argatroban44 1110.1F5, F3, THBD, F2
13tributylphosphate449.1VWF, F9, F8
14dextran sulfate449.1F3, F5, F11, F9
15danaparoid449.0F2, F5, F3
16levonorgestrel44 61 28 1112.0F5, F7, F2, F3
17fondaparinux448.9F5, THBD, F3, F9, F2
18rfviii448.8VWF, F5, F8, F9
19hydroxyethyl starch448.7VWF, F2, F8, F3
20phosphatidylethanolamine44 119.7F2, F9, F8, F5
21simvastatin44 50 61 28 24 1113.5VWF, F5, F3, F2, THBD
22tranexamic acid44 119.5F8, F9, VWF, F3, F2
23cacl2448.5F3, F8, F5, F9, THBD
24cardiolipin44 119.4F5, F3, THBD, F8, F2
25acetaminophen44 2 50 24 1112.3F9, F2, VWF, F8, F5
26gamma-carboxyglutamic acid448.3F2, THBD, F9, F3, F5, F7
27kaolin448.2F3, F8, F5, F12, F2, F9
28aprotinin44 119.1F5, F3, F11, F9, THBD, VWF
29endotoxin448.1F11, F5, F8, F3, F9, THBD
30dermatan sulfate448.1F5, F3, F11, F9, THBD, VWF
31prostacyclin448.0F3, F8, F5, VWF, THBD
32phosphatidylcholine447.9F5, THBD, F2, F8, F9
33cyclophosphamide44 50 119.9F8, VWF, F9, F5, THBD, F3
34ristocetin447.8F2, VWF, F9, F11, F3, F8
35citrate447.6THBD, F3, F2, F5, VWF, F9
36phosphatidylserine44 28 119.6F2, THBD, F9, F3, F8, F5
37aspirin44 50 28 2410.4F5, THBD, VWF, F2, F12, F3
38alanine447.4THBD, F3, F8, F5, F9, VWF
39desmopressin44 61 28 1110.3F11, F3, F8, F5, F9, THBD
40homocysteine44 248.3F2, VWF, THBD, F9, F11, F3
41hirudin447.3F8, F3, F9, THBD, VWF, F2
42phospholipid447.3F3, F9, F11, THBD, VWF, F2
43estrogen447.1THBD, VWF, F9, F2, F12, F8
44kininogen447.0THBD, F9, F11, F12, F3, F5
45warfarin44 50 24 1110.0F7, F5, F8, F3, F9, THBD
46creatinine446.9F7, F8, F9, THBD, F3, VWF
47aspartate446.9F8, F7, F5, F3, F2, VWF
48heparin44 28 24 119.8THBD, F9, F12, VWF, F2, F8
49fibrinogen446.2F2, VWF, THBD, F9, F11, F12
50serine446.2F7, F5, F2, F8, F3, F12

GO Terms for genes affiliated with Factor Xi Deficiency

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

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

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

Products for genes affiliated with Factor Xi Deficiency

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Sources for Factor Xi Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet