MCID: FCT004
MIFTS: 65

Factor Xii Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Factor Xii Deficiency

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Factor xii deficiency is an inherited disorder that affects a protein (factor xii) involved in blood clotting. while a lack of factor xii does not cause affected individuals to bleed abnormally, the blood takes longer than normal to clot in a test tube. the condition is usually discovered when prolonged clotting is noticed in the process of running other laboratory tests. factor xii deficiency is caused by mutations in the f12 gene. it is inherited in an autosomal recessive manner.  last updated: 6/24/2011

MalaCards: Factor Xii Deficiency, also known as factor xii deficiency disease, is related to myocardial infarction and retinal vein occlusion. An important gene associated with Factor Xii Deficiency is F12 (coagulation factor XII (Hageman factor)), and among its related pathways are Selected targets of C EBPalpha and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. The compounds organon and certoparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and heart, and related mouse phenotypes are embryogenesis and nervous system.

Wikipedia:65 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:47 234000

Aliases & Classifications for Factor Xii Deficiency

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 47OMIM, 10DISEASES, 45Novoseek, 62UMLS, 20GeneTests, 22GTR, 49Orphanet, 58SNOMED-CT, 40NCIt, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital hageman factor deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

factor xii deficiency 8 9 43 47 10 45 62
factor xii deficiency disease 8 20 22
factor xiii deficiency 10 45 62
hageman factor deficiency 8 43
congenital hageman factor deficiency 49
coagulation factor 12 deficiency 43
congenital factor xii deficiency 49
factor 12 deficiency 43
deficiency, hageman 8
f12 deficiency 43
haf deficiency 43


External Ids:

Disease Ontology8 DOID:2231
NCIt40 C26770
MeSH35 D005175
SNOMED-CT58 46981006
OMIM47 234000
ICD10 via Orphanet26 D68.2
SNOMED-CT via Orphanet59 46981006

Related Diseases for Factor Xii Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Factor Xii Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction30.6F3, SERPINC1, F8, F5, F9, VWF
2retinal vein occlusion30.5APOH, F5, SERPINC1
3purpura30.4SERPINC1
4central retinal vein occlusion30.4F5, APOH
5von willebrand's disease30.3F3, F9, VWF, F2, F8
6thrombophlebitis30.3F8, APOH
7acute myocardial infarction30.3SERPINC1, VWF, F3
8thromboembolism30.2F2, VWF, F9, F12, APOH, SERPINC1
9venous thrombosis30.2F5, F8, F2, VWF, F3, SERPINC1
10arthropathy30.2F8, F9
11lupus erythematosus30.2APOH, F5, F2, SERPINC1, F3
12bernard-soulier syndrome30.1VWF, F8, F9, F2
13systemic lupus erythematosus30.1F8, F3, VWF, F2, APOH
14factor xi deficiency30.1F3, F8, F5, F12, F9, F2
15pregnancy loss30.0F2, APOH, SERPINC1, F3, F8, F5
16thrombophilia29.8F9, F5, SERPINC1, F8, F3, APOH
17factor xiii deficiency11.3
18factor xiiia deficiency10.5
19factor xiiib deficiency10.4
20retinitis10.4
21arthritis10.3
22glomerulonephritis10.3
23rheumatoid arthritis10.3
24cerebritis10.3
25gout10.3
26polycystic kidney disease10.2
27compartment syndrome10.2
28kidney disease10.2
29leukemia10.2
30plasmacytoma10.2
31vaginitis10.2
32cardiac rupture10.2
33child syndrome10.2
34chronic myelomonocytic leukemia10.2
35cryofibrinogenemia10.2
36chediak-higashi syndrome10.2
37pharyngitis10.2
38hereditary spastic paraplegia10.2
39hemolytic-uremic syndrome10.2
40lemierre's syndrome10.2
41nephrotic syndrome10.2
42neuritis10.2
43paraplegia10.2
44hemophilia10.2
45atypical hemolytic-uremic syndrome10.2
46cluster headache10.2
47rosai-dorfman disease10.2
48headache10.2
49spasticity10.2
50retinal artery occlusion10.1APOH

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



Diseases related to factor xii deficiency

Symptoms for Factor Xii Deficiency

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47OMIM
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Symptoms by clinical synopsis from OMIM:

234000

Clinical features from OMIM:

234000

Drugs & Therapeutics for Factor Xii Deficiency

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Factor Xii Deficiency

Search NIH Clinical Center for Factor Xii Deficiency

Genetic Tests for Factor Xii Deficiency

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20GeneTests, 22GTR
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Genetic tests related to Factor Xii Deficiency:

id Genetic test Affiliating Genes
1 Factor Xii Deficiency20 F12
2 Factor Xii Deficiency Disease22

Anatomical Context for Factor Xii Deficiency

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33MalaCards
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MalaCards organs/tissues related to Factor Xii Deficiency:

33
Testes, Liver, Heart

Animal Models for Factor Xii Deficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Factor Xii Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1F2, F9, SERPINC1, F3, F5
2MP:00036317.9F5, F3, SERPINC1, F12, VWF, F2
3MP:00053977.5F2, VWF, F9, SERPINC1, F3, F8
4MP:00053857.4F2, VWF, F9, SERPINC1, F3, F5
5MP:00053877.4F2, VWF, F9, SERPINC1, F3, F8
6MP:00107686.8F2, VWF, F9, APOH, SERPINC1, F3
7MP:00053765.9KLKB1, F2, VWF, F9, F12, APOH

Publications for Factor Xii Deficiency

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52PubMed
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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 105)
idTitleAuthorsYear
1
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
2
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
3
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. (23348490)
2012
4
Concomitant ST-elevation myocardial infarction and deep vein thrombosis in a patient with severe factor XII deficiency: case report and review of the literature. (21106502)
2011
5
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. (22043782)
2011
6
A case of atypical hemolytic uremic syndrome due to anti-factor H antibody in a patient presenting with a factor XII deficiency identified two novel mutations. (21271273)
2011
7
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. (21297451)
2011
8
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. (20386432)
2010
9
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
10
Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes. (18832903)
2008
11
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
12
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. (17499688)
2007
13
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
14
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
15
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
16
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
17
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
18
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
19
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
20
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
21
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
22
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
23
Factor XII deficiency: a possible cause of livedo with ulceration? (11069485)
2000
24
A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency]. (10517121)
1999
25
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. (10544906)
1999
26
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. (9473199)
1998
27
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)
1996
28
Pseudo factor XII deficiency and phospholipid antibodies. (8743205)
1996
29
Factor XII deficiency and cardiopulmonary bypass. (7795307)
1995
30
Factor XII deficiency and central retinal vein occlusion. (1353152)
1992
31
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. (1550105)
1992
32
Thrombosis in subjects with homozygous and heterozygous factor XII deficiency. (1519222)
1992
33
Factor XII deficiency and pregnancy. (1870803)
1991
34
Fibrinolytic studies in 13 unrelated families with factor XII deficiency. (2055558)
1991
35
Superficial migratory thrombophlebitis and factor XII deficiency. (2110579)
1990
36
Combined von Willebrand's disease and factor XII deficiency in a carrier of haemophilia B. (2788552)
1989
37
Factor XII deficiency associated with loin pain/haematuria syndrome. (2890925)
1987
38
Major abdominal surgery on a patient with factor XII deficiency and lupus anticoagulant: no postoperative DVT as judged by the fibrinogen uptake test. (3127107)
1987
39
Factor XII deficiency and von Willebrand's disease in a family of miniature poodle dogs. (3484442)
1986
40
Hereditary Hageman factor (factor XII) deficiency: report of three families and review of the literature published in Japan. (3811790)
1986
41
Myocardial infarction with normal coronary arteries and factor XII deficiency. (3966962)
1985
42
Defective intrinsic fibrinolytic activity in a patient with severe factor XII-deficiency and myocardial infarction. (6463588)
1984
43
Factor XII deficiency in a man with gout and angioimmunoblastic lymphadenopathy. (6732412)
1984
44
A case of coagulation factor XII deficiency showed weak clot-formation. (6676701)
1983
45
Classic gout in Hageman factor (Factor XII) deficiency. (7103639)
1982
46
Cardiopulmonary bypass and Factor XII deficiency. (7232002)
1981
47
Recurrent thrombosis in a patient with factor XII deficiency. (6774556)
1980
48
Acquired factor XII Deficiency in a patient with nephrotic syndrome. (452949)
1979
49
Molecular heterogeneity of Hageman trait (factor XII deficiency): evidence that two of 49 subjects are cross-reacting material positive (CRM+). (110893)
1979
50
MODERATE FACTOR XII DEFICIENCY. (14285982)
1965

Variations for Factor Xii Deficiency

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Factor Xii Deficiency:

64 (show all 11)
id Symbol AA change Variation ID SNP ID
1F12p.Arg372ProVAR_006623
2F12p.Cys590SerVAR_006624
3F12p.Tyr53CysVAR_014426
4F12p.Arg142ProVAR_031500
5F12p.Ala411ThrVAR_031503
6F12p.Leu414MetVAR_031504
7F12p.Arg417GlnVAR_031505
8F12p.Gln440LysVAR_031506
9F12p.Asp461AsnVAR_031507
10F12p.Trp505CysVAR_031508
11F12p.Gly589ArgVAR_031509

Clinvar genetic disease variations for Factor Xii Deficiency:

1
id Gene Name Type Significance SNP ID Assembly Location
1F12NM_000505.3(F12): c.1681-1G> Asingle nucleotide variantPathogenicrs199988476GRCh37Chr 5, 176829461: 176829461

Expression for genes affiliated with Factor Xii Deficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Factor Xii Deficiency

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

Pathways for genes affiliated with Factor Xii Deficiency

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Sources:
50PathCards, 12EMD Millipore, 55Reactome, 51PharmGKB, 38NCBI BioSystems Database, 60Thomson Reuters, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SERPINC1, F9
2
Show member pathways
9.6F2, F9
39.6KLKB1, F12
49.6KLKB1, F12
59.4F2, VWF
6
Show member pathways
9.4F2, VWF
79.3APOH, F8
8
Show member pathways
8.7F8, VWF, F5
9
Show member pathways
6.7F2, KLKB1, F5, F8, F3, SERPINC1
10
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
6.2KLKB1, F5, F8, F3, SERPINC1, F12
11
Show member pathways
6.2F8, F5, SERPINC1, F12, F9, VWF
12
Show member pathways
6.2F2, VWF, F9, F12, KLKB1, SERPINC1

Compounds for genes affiliated with Factor Xii Deficiency

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45Novoseek, 51PharmGKB, 11DrugBank, 3BitterDB, 24HMDB, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1organon459.2F9, F2, SERPINC1, F3
2certoparin459.2F3, SERPINC1, F2
3inogatran459.2F3, F5, F2, SERPINC1
4acenocoumarol45 51 1111.2F9, F2, F3, F5
5ecarin459.2F3, SERPINC1, F5, F2
6spectrozyme459.2F5, F2, F3, SERPINC1
7danaparoid459.1SERPINC1, F2, F5, F3
8ximelagatran45 1110.1F5, SERPINC1, F2, F3
9heparinoids459.1F5, F3, F2, SERPINC1
10phenprocoumon45 51 1111.1SERPINC1, F9, F3, F2
11bivalirudin45 1110.1SERPINC1, F3, F5, F2
12argatroban45 1110.0F5, F3, SERPINC1, F2
13protamine sulfate458.9SERPINC1, F2, F5, F3
14coumarins458.9F5, F9, F2, F3, APOH
15ppack458.9F3, VWF, F2, SERPINC1
16dextran sulfate458.9APOH, F9, F3, F5, SERPINC1
17fondaparinux458.8F5, F2, F9, F3, SERPINC1
18epsilon aminocaproic acid458.8F3, SERPINC1, F2, F9
19coumarin45 3 51 2411.8F5, F2, F9, SERPINC1, F3
20tirofiban45 119.8F3, VWF, F2, SERPINC1
21rfviii458.8F5, F9, F8, VWF
22ticlopidine45 119.7F3, SERPINC1, APOH, VWF
23cacl2458.6F5, F8, F3, F9
24gamma-carboxyglutamic acid458.6F3, F9, F5, F2
25cardiolipin45 119.4APOH, F3, F5, F2, F8
26phosphatidylethanolamine45 119.3F5, F8, F2, APOH, F9
27dermatan sulfate458.3VWF, F5, F2, F9, SERPINC1, F3
28hydroxyethyl starch458.2SERPINC1, F8, F3, F2, VWF
29cyclophosphamide45 51 1110.0F3, F5, F8, F9, APOH, VWF
30acetaminophen45 3 51 24 1112.0F9, F8, VWF, F2, F5
31tranexamic acid45 118.9SERPINC1, F3, F8, F9, VWF, F2
32endotoxin457.9F5, KLKB1, F3, APOH, F9, F8
33prostacyclin457.9F8, APOH, VWF, SERPINC1, F3, F5
34kaolin457.8F5, F8, F3, F2, F9, F12
35aprotinin45 118.7F9, KLKB1, F5, SERPINC1, VWF, F2
36phosphatidylserine45 29 119.6F9, F2, F8, APOH, F3, F5
37phospholipid457.5VWF, F9, APOH, F3, F8, F5
38ristocetin457.5SERPINC1, F9, VWF, F2, F3, F8
39desmopressin45 61 29 1110.5F5, F8, F3, SERPINC1, F9, VWF
40hirudin457.5F5, F8, F3, SERPINC1, F9, VWF
41citrate457.5F5, F8, F2, F3, VWF, SERPINC1
42aspirin45 51 29 2410.2F8, F3, SERPINC1, APOH, F12, VWF
43warfarin45 51 24 1110.2F5, F8, F3, SERPINC1, APOH, F9
44homocysteine45 248.1F5, F8, F3, SERPINC1, F9, VWF
45creatinine457.1F3, F2, VWF, F9, APOH, SERPINC1
46kininogen457.1F2, F12, KLKB1, F5, APOH, F9
47estrogen456.9F8, APOH, F12, F9, SERPINC1, F2
48serine456.4F8, F5, VWF, KLKB1, F3, SERPINC1
49heparin45 29 24 119.2KLKB1, F5, F8, F3, SERPINC1, APOH
50fibrinogen456.2KLKB1, F5, F8, F3, SERPINC1, APOH

GO Terms for genes affiliated with Factor Xii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:0310129.3VWF, F3, APOH
2platelet alpha granule lumenGO:0310938.4F8, F5, VWF
3extracellular spaceGO:0056156.7F2, F12, APOH, SERPINC1, F3, F8
4plasma membraneGO:0058866.6F2, F9, F12, SERPINC1, F3, F8
5extracellular regionGO:0055766.5KLKB1, F2, F5, F8, SERPINC1, F12

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.0F9, F3
2Factor XII activationGO:0025429.8KLKB1, F12
3positive regulation of fibrinolysisGO:0519199.8F12, KLKB1
4zymogen activationGO:0316389.7KLKB1, F12
5negative regulation of fibrinolysisGO:0519189.6F2, APOH
6plasminogen activationGO:0316399.6KLKB1, APOH
7peptidyl-glutamic acid carboxylationGO:0171879.6F2, F9
8positive regulation of blood coagulationGO:0301949.6F12, F2, APOH
9response to woundingGO:0096119.4F2, VWF
10fibrinolysisGO:0427309.3KLKB1, F12, F2
11platelet degranulationGO:0025768.9F8, VWF, F5
12proteolysisGO:0065088.9KLKB1, F2, F9
13acute-phase responseGO:0069538.8F8, F2
14platelet activationGO:0301688.4F5, F2, VWF, F8
15blood coagulation, intrinsic pathwayGO:0075977.3F12, KLKB1, F8, APOH, F2, VWF
16blood coagulationGO:0075966.5F8, F3, SERPINC1, F12, F9, VWF

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

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:0019489.3APOH, VWF
2copper ion bindingGO:0055079.2F8, F5
3protease bindingGO:0020209.1VWF, SERPINC1, F3
4serine-type endopeptidase activityGO:0042527.5F9, F12, F8, F5, KLKB1, F2
5protein bindingGO:0055156.1KLKB1, F5, F8, F3, APOH, F12

Products for genes affiliated with Factor Xii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xii Deficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet