MCID: FCT002
MIFTS: 62

Factor Xi Deficiency malady

Immune diseases, Blood diseases categories

Summaries for Factor Xi Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 factor vii deficiency and factor xii deficiency. An important gene associated with Factor Xi Deficiency is F11 (coagulation factor XI), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Gamma-carboxylation, transport, and amino-terminal cleavage of proteins. The compounds coumarins and bivalirudin have been mentioned in the context of this disorder. Affiliated tissues include liver, colon and brain, and related mouse phenotypes are cardiovascular system and immune system.

Description from OMIM:46 612416

Aliases & Classifications for Factor Xi Deficiency

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 27ICD9CM, 46OMIM, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

factor xi deficiency 8 42 20 10 44 60
plasma thromboplastin antecedent deficiency 8 42
hereditary factor xi deficiency disease 8 22
factor xi deficiency, congenital 42
congenital factor xi deficiency 8
rosenthal's disease 8
rosenthal syndrome 42
f11 deficiency 42
pta deficiency 42
hemophilia c 8


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Disease Ontology8 DOID:2229
ICD9CM27 286.2
SNOMED-CT56 49762007
OMIM46 612416
NCIt39 C84705
ICD1025 D68.1

Related Diseases for Factor Xi Deficiency

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17GeneCards, 18GeneDecks
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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 179)
idRelated DiseaseScoreTop Affiliating Genes
1factor vii deficiency30.6F9, F8, F5, F7, F3, F2
2factor xii deficiency30.5F5, F3
3factor viii deficiency30.5F9, F8, F5, F7, F3
4von willebrand's disease30.5F9, F8, F7, F3, VWF, F2
5pulmonary embolism30.3F9, F5, F3, F2
6lupus erythematosus30.3F5, F3, F2, THBD
7hemarthrosis30.3F9, F8, F3, VWF
8systemic lupus erythematosus30.3F8, F3, VWF, F2, THBD
9myocardial infarction30.3F9, F8, F5, F11, F7, F3
10stroke, ischemic30.1F5, F2
11peripheral vascular disease30.1THBD, VWF, F3
12factor v deficiency30.1F8, F5, F3, F2
13acute myocardial infarction30.1F7, F3, VWF, THBD
14bernard-soulier syndrome30.1F9, F8, VWF, F2
15retinal disease30.1THBD, VWF, F8
16vascular disease30.1THBD, VWF, F3, F7, F5
17thrombophilia30.1F5, F11, F12, F7, F3, VWF
18leukemia29.9F11, F8, F9
19melkersson-rosenthal syndrome11.1
20cheilitis10.6
21factor xi deficiency, autosomal recessive10.5
22crohn's disease10.5
23hemophilia10.3
24xeroderma pigmentosum10.3
25cataract10.3
26colon cancer10.3
27factor xi deficiency, autosomal dominant10.3
28vulvitis10.2
29sarcoidosis10.2
30multiple cranial nerve palsy10.1
31cranial nerve palsy10.1
32ehlers-danlos syndrome10.1
33leprosy10.1
34tuberculosis10.1
35membranoproliferative glomerulonephritis10.1
36gaucher's disease10.1
37fibrous histiocytoma10.1
38noonan syndrome10.1
39cerebritis10.1
40leukocyte adhesion deficiency10.1
41juvenile rheumatoid arthritis10.1
42myositis ossificans10.1
43prader-willi syndrome10.1
44carotid artery occlusion10.1
45listeriosis10.1
46arthritis10.1
47cervicitis10.1
48ectropion10.1
49glaucoma10.1
50glomerulonephritis10.1

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



Diseases related to factor xi deficiency

Clinical Features for Factor Xi Deficiency

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46OMIM
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Clinical features from OMIM:

612416

Drugs & Therapeutics for Factor Xi Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Factor Xi Deficiency

Search CenterWatch for Factor Xi Deficiency

Genetic Tests for Factor Xi Deficiency

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20GeneTests, 22GTR
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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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Factor Xi Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.9F9, F11, F7, F3, F2
2MP:00053877.4F8, F11, F3, VWF, F2, THBD
3MP:00053977.1F9, F8, F11, F3, VWF, F2
4MP:00036317.0ITSN2, F5, F11, F12, F3, VWF
5MP:00107686.6F9, F8, F5, F11, F7, F3
6MP:00053766.4THBD, F9, F8, F5, F11, F12

Publications for Factor Xi Deficiency

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50PubMed
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Articles related to Factor Xi Deficiency:

(show top 50)    (show all 274)
idTitleAuthorsYear
1
Congenital factor XI deficiency: an update. (23929304)
2013
2
Peripartum anesthetic management of patients with Factor XI deficiency. (24096436)
2013
3
Aortic valve replacement in an elderly patient with factor XI deficiency. (23743606)
2013
4
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France). (22159456)
2012
5
Successful hip arthroplasty in an adult male with severe factor XI deficiency using HemolevenAr, a factor XI concentrate. (21699628)
2011
6
Molecular analysis of severe factor XI deficiency in three Italian patients. (21649796)
2011
7
Factor XI deficiency: two novel mutations in asymptomatic Italian patients. (20491955)
2010
8
Review: Factor XI deficiency: review and management in pregnant women. (19049995)
2010
9
Identification of factor XI deficiency in Holstein cattle in Turkey. (19161609)
2009
10
Factor XI deficiency and obstetrical anesthesia. (19448217)
2009
11
Use of recombinant factor VIIa for hip replacement surgery in a patient with severe factor XI deficiency and drug-induced platelet defect. (18582229)
2008
12
Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect. (18327400)
2008
13
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. (18832909)
2008
14
Recombinant factor VIIa for the prophylaxis of perioperative hemorrhage in a patient with congenital factor XI deficiency undergoing brain tumor neurosurgery. (18160590)
2008
15
Pregnancy outcome in Factor XI deficiency: incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with Factor XI deficiency. (17439571)
2007
16
An illustrative case and a review on the dosing of recombinant factor VIIa in congenital factor XI deficiency. (16643205)
2006
17
Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency. (15870541)
2005
18
United States' factor XI-deficiency patients need a safer treatment. (16315257)
2005
19
Factor XI deficiency database: an interactive web database of mutations, phenotypes, and structural analysis tools. (16086308)
2005
20
Factor XI deficiency with a novel homozygous mutation Trp599Arg near the C-terminal region. (15996948)
2005
21
Detection of single nucleotide polymorphisms in coagulation factor XI deficient patients by multitemperature single-strand conformation polymorphism analysis. (16302212)
2005
22
A classification system for cross-reactive material-negative factor XI deficiency. (15728123)
2005
23
The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg]. (15946525)
2005
24
Factor XI deficiency. (14872426)
2004
25
Is the assessment of von Willebrand disease prevalence an achievable challenge? The example of the French Basque Country where blood group O and factor XI deficiency are highly prevalent. (15456482)
2004
26
New observations on factor XI deficiency. (15479396)
2004
27
Two factor XI mutations in a Chinese family with factor XI deficiency. (14508802)
2003
28
Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene. (11895778)
2002
29
Congenital factor XI deficiency in a domestic shorthair cat. (12428887)
2002
30
Severe intraabdominal bleeding after transvaginal oocyte retrieval for IVF-ET and coagulation factor XI deficiency: a case report. (11411435)
2001
31
Traumatic hyphema and factor XI deficiency (hemophilia C). (11594962)
2001
32
Molecular genetic analysis of factor XI deficiency: identification of five novel gene alterations and the origin of type II mutation in Portuguese families. (11127865)
2000
33
Molecular Analysis in Factor XI Deficiency. (21340997)
1999
34
A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. (8807341)
1996
35
Factor XI deficiency in an Ashkenazi Jewish child, causing severe postoperative hemorrhage. (8749944)
1995
36
Factor XI and phosphorylase b kinase deficiency. (7623455)
1995
37
Factor XI deficiency and hemostasis. (8086008)
1994
38
Dental surgery in patients with severe factor XI deficiency without plasma replacement. (1420822)
1992
39
Factor XI deficiency in Ashkenazi Jews in Israel. (2052060)
1991
40
Factor XI deficiency disclosed following haemorrhage related to a dental extraction. Brief review and case report. (2203331)
1990
41
Peripheral retinal vascular lesions in a patient with Gaucher disease and factor XI deficiency. Case report. (3178547)
1988
42
The factor of factor XI deficiency in thyroid neoplasia. (3787461)
1986
43
Plasma thromboplastin antecedent (Factor XI) deficiency in a black family. (7235815)
1981
44
Factor XI deficiency (PTA deficiency): a case study. (6930457)
1980
45
Factor XI deficiency resulting in severe postoperative hemorrhage after odontectomy. (315455)
1979
46
PTA deficiency (factor XI deficiency). Report of a case. (1065839)
1976
47
Factor XI activity and factor XI antigen in homozygous and heterozygous factor XI deficiency. (985704)
1976
48
Hereditary factor XI deficiency. (1083899)
1976
49
Bovine plasma thromboplastin antecedent (Factor XI) deficiency. (5256172)
1969
50
Probable factor XI deficiency in Bantu subjects. (5677784)
1968

Genetic Variations for Factor Xi Deficiency

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Expression for genes affiliated with Factor Xi Deficiency

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1BioGPS, 15Gene 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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53Reactome, 49PharmGKB, 51QIAGEN, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Factor Xi Deficiency

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 2BitterDB, 59Tocris Bioscience
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Compounds related to Factor Xi Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 145)
idCompoundScoreTop Affiliating Genes
1coumarins4410.2F9, F3
2bivalirudin44 1110.9F2, F3, F5
3warfarin44 49 11 2412.8VWF, F9
4inogatran449.8F5, F3, F2
5ecarin449.7F5, F2, F3
6heparin sodium449.7F3, THBD, F2
7spectrozyme449.7F5, F3, F2
8phosphatidylserine44 28 1111.6F2, F8, F3
9hirugen449.6F2, THBD, F5
10acenocoumarol44 49 1111.6F5, F2, F3, F9
11dextran sulfate449.6F5, F9, F11
12danaparoid449.6F3, F2, F5
13ximelagatran44 1110.5F5, F3, THBD, F2
14heparinoids449.5F3, F2, THBD, F5
15organon449.5F9, F2, F3
16aspartate449.5F2, F7, F8
17argatroban44 1110.4F5, F3, F2, THBD
18coumarin44 2 49 2412.4F9, F3, F2, F5
19ancrod449.4F2, THBD, F5
20levonorgestrel44 59 28 1112.3F2, F3, F7, F5
21fondaparinux449.2F2, F9, F5, F3, THBD
22Coagulation Factor IX119.2F8, F7, F2, F11
23Drotrecogin alfa119.1THBD, F2, F5, F8
24tributylphosphate449.0VWF, F8, F9
25phosphatidylethanolamine44 1110.0F9, F8, F5, F2
26cacl2448.9THBD, F9, F8, F5, F3
27rfviii448.8VWF, F9, F8, F5
28gamma-carboxyglutamic acid448.8THBD, F7, F5, F2, F9, F3
29hydroxyethyl starch448.7F2, VWF, F8, F3
30kaolin448.7F9, F8, F5, F2, F3, F12
31endotoxin448.6F3, F9, THBD, F11, F5, F8
32tranexamic acid44 119.5F9, F2, F8, F3, VWF
33aprotinin44 119.5F9, F3, VWF, THBD, F5, F11
34simvastatin44 49 59 28 11 2413.4F5, THBD, F2, VWF, F3
35acetaminophen44 2 49 11 2412.4F9, VWF, F5, F2, F8
36dermatan sulfate448.2THBD, F2, VWF, F3, F11, F5
37cyclophosphamide44 49 1110.0F5, F3, VWF, F8, F9, THBD
38ristocetin447.9F8, F5, F11, F3, VWF, F2
39citrate447.8VWF, F3, F8, F9, F2, F5
40aspirin44 49 28 2410.7F8, F12, F3, VWF, F2, THBD
41prostacyclin447.7THBD, VWF, F3, F5, F8
42desmopressin44 59 28 1110.6F3, VWF, F11, F5, F8, F9
43homocysteine44 248.5F9, F5, F11, F3, VWF, F2
44hirudin447.5THBD, F2, VWF, F3, F11, F5
45phospholipid447.5F5, F11, F3, VWF, F2, THBD
46kininogen447.3THBD, F2, VWF, F3, F7, F12
47creatinine447.3F7, F9, F5, F3, VWF, F8
48heparin44 28 11 2410.1F12, F11, F3, F2, THBD, VWF
49fibrinogen446.7F2, VWF, F3, F7, F12, F11
50serine446.6F9, F5, F8, F3, F11, F12

GO Terms for genes affiliated with Factor Xi Deficiency

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16Gene Ontology
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Cellular components related to Factor Xi Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.4F2, F7, F9
2Golgi lumenGO:0057969.1F2, F7, F9
3platelet alpha granule lumenGO:0310938.6F8, F5, VWF
4extracellular spaceGO:0056157.9F2, F8, F5, F11, F12, F7
5plasma membraneGO:0058867.1F9, F8, F5, F11, F12, F7
6extracellular regionGO:0055767.0F9, F8, F5, F11, F12, F7

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of fibrinolysisGO:05191910.0F12, F11
2positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.9F7, F3
3negative regulation of platelet activationGO:0105449.8THBD, F2
4positive regulation of positive chemotaxisGO:0509279.7F3, F7
5blood coagulation, extrinsic pathwayGO:0075989.7F9, F7, F3
6peptidyl-glutamic acid carboxylationGO:0171879.7F2, F7, F9
7negative regulation of fibrinolysisGO:0519189.6F2, THBD
8positive regulation of blood coagulationGO:0301949.6F2, F7, F12
9fibrinolysisGO:0427309.5F2, F12
10post-translational protein modificationGO:0436879.4F2, F7, F9
11proteolysisGO:0065089.0F2, F7, F12, F11, F9
12platelet degranulationGO:0025768.8F8, F5, VWF
13platelet activationGO:0301688.5F8, F5, VWF, F2
14blood coagulation, intrinsic pathwayGO:0075978.1F9, F8, F11, F12, VWF, F2
15blood coagulationGO:0075966.6THBD, F9, F8, F5, F11, F12

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

idNameGO IDScoreTop Affiliating Genes
1serine-type aminopeptidase activityGO:0700099.7F12, F11
2serine-type endopeptidase activityGO:0042528.8F2, F7, F12, F11, F9
3calcium ion bindingGO:0055098.2F9, ITSN2, F7, F2, THBD
4protein bindingGO:0055156.5ITSN2, F5, F11, F12, F3, VWF

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet