MCID: FCT004
MIFTS: 66

Factor Xii Deficiency malady

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

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NIH Rare Diseases:42 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 based summary: Factor Xii Deficiency, also known as factor xii deficiency disease, is related to purpura and central retinal vein occlusion, and has symptoms including 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, heart and liver, 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:46 234000

Aliases & Classifications for Factor Xii Deficiency

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 20GeneTests, 22GTR, 48Orphanet, 34MeSH, 39NCIt, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Factor Xii Deficiency, Aliases & Descriptions:

Name: Factor Xii Deficiency 8 9 42 46 10 44 62
Factor Xii Deficiency Disease 8 20 22 62
Hageman Factor Deficiency 8 42 62
Factor Xiii Deficiency 10 44 62
Coagulation Factor 12 Deficiency 42 62
Congenital Hageman Factor Deficiency 48
 
Congenital Factor Xii Deficiency 48
Factor 12 Deficiency 42
Deficiency, Hageman 8
Haf Deficiency 42
F12 Deficiency 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital hageman factor deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:2231
MeSH34 D005175
NCIt39 C26770
SNOMED-CT57 46981006
OMIM46 234000
ICD10 via Orphanet26 D68.2

Related Diseases for Factor Xii Deficiency

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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
1purpura31.2SERPINC1
2central retinal vein occlusion30.8F5, APOH
3retinal vein occlusion30.7APOH, SERPINC1, F5
4thrombophlebitis30.5APOH, F8
5acute myocardial infarction30.4F3, SERPINC1, VWF
6arthropathy30.1F8, F9
7hepatitis30.1F8, F9, F2
8hepatitis c30.0F8, F9, F2
9myocardial infarction29.9VWF, F9, SERPINC1, F3, F8, F5
10lupus erythematosus29.9F5, F3, SERPINC1, APOH, F2
11von willebrand's disease29.9F2, VWF, F9, F3, F8
12bernard-soulier syndrome29.8F2, VWF, F9, F8
13systemic lupus erythematosus29.6F2, VWF, APOH, F3, F8
14factor xi deficiency29.5F2, F9, F12, F3, F8, F5
15pregnancy loss29.4F3, F8, F5, SERPINC1, APOH, F2
16thromboembolism29.0F5, F8, F3, SERPINC1, F2, VWF
17venous thrombosis29.0F3, F8, F5, SERPINC1, APOH, F12
18thrombophilia28.6F2, VWF, F9, F12, APOH, SERPINC1
19factor xiii deficiency11.3
20retinal artery occlusion10.5APOH
21factor xiiia deficiency10.5
22carotid artery thrombosis10.5F3
23warfarin sensitivity10.5F9
24patent foramen ovale10.5F5
25branch retinal artery occlusion10.5F5
26eclampsia10.5SERPINC1
27homocysteinemia10.5F5
28angiodysplasia10.4VWF
29factor xiiib deficiency10.4
30retinitis10.4
31glanzmann's thrombasthenia10.4VWF
32hypersplenism10.4F2
33hemorrhagic disease10.4F9, F12
34sneddon syndrome10.3APOH, SERPINC1
35mondor disease10.3F5, APOH
36arthritis10.3
37glomerulonephritis10.3
38rheumatoid arthritis10.3
39gout10.3
40cerebritis10.3
41retinal vascular occlusion10.3F5, APOH
42sagittal sinus thrombosis10.3SERPINC1, F5
43post-thrombotic syndrome10.3F5, SERPINC1
44legg-calve-perthes disease10.3SERPINC1, F5
45placental abruption10.3SERPINC1, F5
46vitamin k deficiency hemorrhagic disease10.3F3, F2
47cerebrovascular disease10.3F12, APOH
48peripheral vascular disease10.3VWF, F3
49cardiac tamponade10.3F8
50stroke, ischemic10.3F5, F2

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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Symptoms by clinical synopsis from OMIM:

234000

Clinical features from OMIM:

234000

HPO human phenotypes related to Factor Xii Deficiency:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 prolonged partial thromboplastin time HP:0003645
3 reduced factor xii activity HP:0004841
4 prolonged whole-blood clotting time HP:0005542

Drugs & Therapeutics for Factor Xii Deficiency

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Drug clinical trials:

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Genetic Tests for Factor Xii Deficiency

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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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MalaCards organs/tissues related to Factor Xii Deficiency:

32
Testes, Heart, Liver

Animal Models for Factor Xii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xii Deficiency:

36
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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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 107)
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
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. (16130082)
2005
17
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
18
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
19
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
20
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
21
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
22
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
23
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
24
Factor XII deficiency: a possible cause of livedo with ulceration? (11069485)
2000
25
A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency]. (10517121)
1999
26
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. (10544906)
1999
27
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. (9473199)
1998
28
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)
1996
29
Pseudo factor XII deficiency and phospholipid antibodies. (8743205)
1996
30
Factor XII deficiency and cardiopulmonary bypass. (7795307)
1995
31
Factor XII deficiency and central retinal vein occlusion. (1353152)
1992
32
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. (1550105)
1992
33
Thrombosis in subjects with homozygous and heterozygous factor XII deficiency. (1519222)
1992
34
Factor XII deficiency and pregnancy. (1870803)
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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Factor Xii Deficiency

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Pathways for genes affiliated with Factor Xii Deficiency

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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
9.6F9, F2
39.6KLKB1, F12
49.6KLKB1, F12
59.4VWF, F2
6
Show member pathways
9.4VWF, F2
79.3APOH, F8
8
Show member pathways
8.7VWF, F8, F5
9
Show member pathways
6.7F2, KLKB1, F5, F8, F3, SERPINC1
10
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
6.2F5, F8, F3, SERPINC1, F12, F9
11
Show member pathways
6.2KLKB1, F5, F8, F3, SERPINC1, F12
12
Show member pathways
6.2F2, VWF, KLKB1, F5, F8, F3

Compounds for genes affiliated with Factor Xii Deficiency

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Compounds related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1organon449.2F9, F2, SERPINC1, F3
2certoparin449.2F3, SERPINC1, F2
3inogatran449.2F3, F5, F2, SERPINC1
4acenocoumarol44 50 1111.2F9, F2, F3, F5
5ecarin449.2F3, SERPINC1, F5, F2
6spectrozyme449.2F5, F2, F3, SERPINC1
7danaparoid449.1SERPINC1, F2, F5, F3
8ximelagatran44 1110.1F5, SERPINC1, F2, F3
9heparinoids449.1F5, F3, F2, SERPINC1
10phenprocoumon44 50 1111.1SERPINC1, F9, F3, F2
11bivalirudin44 1110.1SERPINC1, F3, F5, F2
12argatroban44 1110.0F5, F3, SERPINC1, F2
13protamine sulfate448.9SERPINC1, F2, F5, F3
14coumarins448.9F5, F9, F2, F3, APOH
15ppack448.9F3, VWF, F2, SERPINC1
16dextran sulfate448.9APOH, F9, F3, F5, SERPINC1
17fondaparinux448.8F5, F2, F9, F3, SERPINC1
18epsilon aminocaproic acid448.8F3, SERPINC1, F2, F9
19coumarin44 2 50 2411.8F5, F2, F9, SERPINC1, F3
20tirofiban44 119.8F3, VWF, F2, SERPINC1
21rfviii448.8F5, F9, F8, VWF
22ticlopidine44 119.7F3, SERPINC1, APOH, VWF
23cacl2448.6F5, F8, F3, F9
24gamma-carboxyglutamic acid448.6F3, F9, F5, F2
25cardiolipin44 119.4APOH, F3, F5, F2, F8
26phosphatidylethanolamine44 119.3F5, F8, F2, APOH, F9
27dermatan sulfate448.3VWF, F5, F2, F9, SERPINC1, F3
28hydroxyethyl starch448.2SERPINC1, F8, F3, F2, VWF
29cyclophosphamide44 50 1110.0F3, F5, F8, F9, APOH, VWF
30acetaminophen44 2 50 24 1112.0F9, F8, VWF, F2, F5
31tranexamic acid44 118.9SERPINC1, F3, F8, F9, VWF, F2
32endotoxin447.9F5, KLKB1, F3, APOH, F9, F8
33prostacyclin447.9F8, APOH, VWF, SERPINC1, F3, F5
34kaolin447.8F5, F8, F3, F2, F9, F12
35aprotinin44 118.7F9, KLKB1, F5, SERPINC1, VWF, F2
36phosphatidylserine44 28 119.6F9, F2, F8, APOH, F3, F5
37phospholipid447.5VWF, F9, APOH, F3, F8, F5
38ristocetin447.5SERPINC1, F9, VWF, F2, F3, F8
39desmopressin44 61 28 1110.5F5, F8, F3, SERPINC1, F9, VWF
40hirudin447.5F5, F8, F3, SERPINC1, F9, VWF
41citrate447.5F5, F8, F2, F3, VWF, SERPINC1
42aspirin44 50 28 2410.2F8, F3, SERPINC1, APOH, F12, VWF
43warfarin44 50 24 1110.2F5, F8, F3, SERPINC1, APOH, F9
44homocysteine44 248.1F5, F8, F3, SERPINC1, F9, VWF
45creatinine447.1F3, F2, VWF, F9, APOH, SERPINC1
46kininogen447.1F2, F12, KLKB1, F5, APOH, F9
47estrogen446.9F8, APOH, F12, F9, SERPINC1, F2
48serine446.4F8, F5, VWF, KLKB1, F3, SERPINC1
49heparin44 28 24 119.2KLKB1, F5, F8, F3, SERPINC1, APOH
50fibrinogen446.2KLKB1, F5, F8, F3, SERPINC1, APOH

GO Terms for genes affiliated with Factor Xii Deficiency

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

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

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

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

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

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

Products for genes affiliated with Factor Xii Deficiency

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  • Antibodies
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  • Lysates

Sources for Factor Xii 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