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 testes, 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, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 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:

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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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, Testes, Brain, Lung, Heart, Thyroid

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
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews. (23332144)
2013
2
Biological determinants of bleeding in patients with heterozygous factor XI deficiency. (22098495)
2012
3
Acquired factor XI deficiency in a child with membranoproliferative glomerulonephritis. (21850674)
2012
4
Successful treatment of a patient with colon cancer with congenital coagulation factor XI deficiency. (22369804)
2012
5
Delayed intra-abdominal bleeding following hysterectomy successfully managed with angiographic embolization in a patient with factor XI deficiency. (22342055)
2012
6
A surgical case of cerebral hemorrhage in a patient with factor XI deficiency. (22527292)
2012
7
Management of gynecologic surgery in the patient with factor XI deficiency: a review of the literature. (22624777)
2012
8
Intraneural hematoma after nerve stimulation-guided femoral block in a patient with factor XI deficiency: case report. (21570619)
2011
9
Three dominant-negative mutations in factor XI-deficient patients. (21457405)
2011
10
A novel missense mutation Asp506Gly in exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. (22016685)
2011
11
Elevated factor VIII enhances thrombin generation in the presence of factor VIII-deficiency, factor XI-deficiency or fondaparinux. (21144556)
2011
12
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
13
Factor XI deficiency--resolving the enigma? (20008187)
2009
14
Factor XI deficiency. (18312365)
2008
15
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
16
Percutaneous coronary intervention in a patient with congenital factor XI deficiency and acquired inhibitor. (16791004)
2007
17
Inhibitors to Factor XI in patients with severe Factor XI deficiency. (16427373)
2006
18
Carrier rate of Factor XI deficiency in stunted Japanese black cattle. (17213692)
2006
19
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
20
Effects of factor IX or factor XI deficiency on ferric chloride-induced carotid artery occlusion in mice. (15733058)
2005
21
An insertion mutation of the bovine Fii gene is responsible for factor XI deficiency in Japanese black cattle. (16104386)
2005
22
Response to desmopressin of factors XI, X and V in patients with factor VIII deficiency and von Willebrand disease. (15198739)
2004
23
Inherited factor XI deficiency confers no protection against acute myocardial infarction. (12871398)
2003
24
Successful use of recombinant factor VIIa in a patient with inhibitor secondary to severe factor XI deficiency. (11952851)
2002
25
Severe factor XI deficiency caused by compound heterozygosity for the type III mutation and a novel insertion in exon 9 (codons 324/325 +G). (11564078)
2001
26
A novel type of factor XI deficiency showing compound genetic abnormalities: a nonsense mutation and an impaired transcription. (10730000)
2000
27
Prophylactic use of desmopressin in surgery of six patients with symptomatic heterozygous factor XI deficiency. (10629606)
2000
28
Factor XI deficiency: implications for management of patients undergoing aesthetic surgery. (10541197)
1999
29
Factor XI deficiency: literature review and case presentation. (10553551)
1999
30
Anaesthetic management of a parturient with severe congenital factor XI deficiency undergoing caesarean section for triplet pregnancy. (15321248)
1998
31
A murine model of factor XI deficiency. (9518045)
1997
32
Identification of two novel mutations in non-Jewish factor XI deficiency. (7669672)
1995
33
Combined factor VIII/factor XI deficiency may cause intra-familial clinical variability in haemophilia A among Ashkenazi Jews. (8180339)
1994
34
Factor XI deficiency and hemostasis. (8092144)
1994
35
Factor XI deficiency in Kerry Blue Terriers. (7730123)
1994
36
Anesthetic management of a patient with factor XI deficiency and factor XI inhibitor undergoing a cesarean section. (8498679)
1993
37
Combined hereditary factor XI (plasma thromboplastin antecedent) deficiency, von Willebrand's disease, and xeroderma pigmentosum in a Japanese family. (8266918)
1993
38
A molecular genetic study of factor XI deficiency. (2018835)
1991
39
Myocardial infarction in a patient with factor XI deficiency and a lupus anticoagulant. (1936005)
1991
40
The molecular genetics of factor XI deficiency. (2688756)
1989
41
Transfusion-induced specific anti-factor XI inhibitor in a patient with previously unrecognized factor XI deficiency. (3258118)
1988
42
Factor XI Deficiency in Canadian Holsteins. (17422739)
1987
43
Spontaneous hematomyelia secondary to factor XI deficiency. Case report. (4020452)
1985
44
Factor XI deficiency and a platelet defect. (6683697)
1983
45
Acquired factor XI deficiency in systemic lupus erythematosus. (7164014)
1982
46
Combined severe factor XI deficiency and von Willebrand's disease. (6772018)
1980
47
Factor XI deficiency: detection and management during urological surgery. (650760)
1978
48
Factor XI deficiency, juvenile rheumatoid arthritis and systemic lupus erythematosus. Report of the first case. (888850)
1977
49
Pulmonary embolism with factor XI deficiency. (1242430)
1975
50
PTA (factor XI) deficiency and prolonged bleeding time. (5055262)
1972

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