MCID: FCT004
MIFTS: 58

Factor Xii Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Factor Xii Deficiency

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 38NCIt, 55SNOMED-CT, 26ICD10 via Orphanet
See all sources

Factor Xii Deficiency, Aliases & Descriptions:

Name: Factor Xii Deficiency 45 9 10 41 11 43 60
Factor 12 Deficiency 41 20 22
Congenital Hageman Factor Deficiency 41 47
Congenital Factor Xii Deficiency 41 47
Hageman Factor Deficiency 9 41
 
Coagulation Factor 12 Deficiency 41
Factor Xii Deficiency Disease 9
Deficiency, Hageman 9
F12 Deficiency 41
Haf Deficiency 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital hageman factor deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 234000
Disease Ontology9 DOID:2231
MeSH33 D005175
SNOMED-CT55 46981006
NCIt38 C26770
Orphanet47 330
ICD10 via Orphanet26 D68.2

Summaries for Factor Xii Deficiency

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NIH Rare Diseases:41 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 12 deficiency, is related to central retinal vein occlusion and retinal vein occlusion, and has symptoms including autosomal recessive inheritance, prolonged partial thromboplastin time and reduced factor xii activity. 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 inogatran have been mentioned in the context of this disorder. Affiliated tissues include testes, whole blood and heart, and related mouse phenotypes are embryogenesis and nervous system.

Wikipedia:63 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:45 234000

Related Diseases for Factor Xii Deficiency

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Diseases related to Factor Xii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1central retinal vein occlusion30.8F5, APOH
2retinal vein occlusion30.7APOH, SERPINC1, F5
3thrombophlebitis30.5APOH, F8
4hypoprothrombinemia30.1F2, APOH, SERPINC1, F5
5thrombocytosis30.1F2, VWF, SERPINC1, F3
6myocardial infarction29.9VWF, F9, SERPINC1, F3, F8, F5
7lupus erythematosus29.9F5, F3, SERPINC1, APOH, F2
8von willebrand's disease29.9F2, VWF, F9, F3, F8
9systemic lupus erythematosus29.6F2, VWF, APOH, F3, F8
10hemophilia a29.1F8, F5, F3, SERPINC1, F9, F2
11thrombophilia28.6F2, VWF, F9, F12, APOH, SERPINC1
12retinal artery occlusion10.5APOH
13carotid artery thrombosis10.5F3
14coumarin resistance10.5F9
15patent foramen ovale10.5F5
16purpura10.5SERPINC1
17branch retinal artery occlusion10.5F5
18eclampsia10.5SERPINC1
19homocysteinemia10.5F5
20angiodysplasia10.4VWF
21retinitis10.4
22glanzmann thrombasthenia10.4VWF
23hypersplenism10.4F2
24factor xiii deficiency10.4F3, F5
25hemorrhagic disease10.3F9, F12
26sneddon syndrome10.3APOH, SERPINC1
27cerebritis10.3
28gout10.3
29mondor disease10.3F5, APOH
30retinal vascular occlusion10.3F5, APOH
31sagittal sinus thrombosis10.3SERPINC1, F5
32post-thrombotic syndrome10.3F5, SERPINC1
33legg-calve-perthes disease10.3SERPINC1, F5
34vitamin k deficiency hemorrhagic disease10.3F3, F2
35placental abruption10.3SERPINC1, F5
36cerebrovascular disease10.3F12, APOH
37peripheral vascular disease10.3VWF, F3
38cardiac tamponade10.3F8
39stroke, ischemic10.3F5, F2
40meningococcemia10.2SERPINC1, F5
41collagen disease10.2APOH, VWF
42respiratory failure10.2F3, SERPINC1
43bilirubin metabolic disorder10.2F2, F9
44raynaud disease10.2VWF, APOH
45behcet's disease10.2APOH, F5
46scott syndrome10.2F5, F2
47homocystinuria10.2SERPINC1, F5
48chediak-higashi syndrome10.2
49hereditary spastic paraplegia10.2
50pharyngitis10.2

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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Search NIH Clinical Center for Factor Xii Deficiency

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:

31
Testes, Whole blood, Heart, Liver

Animal Models for Factor Xii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xii Deficiency:

35
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 106)
idTitleAuthorsYear
1
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. (25419425)
2014
2
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
3
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
4
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. (23348490)
2012
5
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
6
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. (22043782)
2011
7
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
8
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. (21297451)
2011
9
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. (20386432)
2010
10
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
11
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
12
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
13
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. (17499688)
2007
14
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
15
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
16
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
17
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. (16130082)
2005
18
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
19
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
20
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
21
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
22
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
23
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
24
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
25
Factor XII deficiency: a possible cause of livedo with ulceration? (11069485)
2000
26
A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency]. (10517121)
1999
27
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. (10544906)
1999
28
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. (9473199)
1998
29
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)
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:

62 (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 Variation 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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Search GEO for disease gene expression data for Factor Xii Deficiency.

Pathways for genes affiliated with Factor Xii Deficiency

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Pathways related to Factor Xii Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6F9, F2
29.6KLKB1, F12
39.6KLKB1, F12
49.4VWF, F2
5
Show member pathways
9.4VWF, F2
6
Show member pathways
8.7VWF, F8, F5
7
Show member pathways
6.7F2, KLKB1, F5, F8, F3, SERPINC1
8
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
6.2F5, F8, F3, SERPINC1, F12, F9
9
Show member pathways
6.2KLKB1, F5, F8, F3, SERPINC1, F12
10
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 Suite gene sharing:

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1organon439.2F9, F2, SERPINC1, F3
2inogatran439.2F3, F5, F2, SERPINC1
3acenocoumarol43 49 1211.2F9, F2, F3, F5
4ecarin439.2F3, SERPINC1, F5, F2
5spectrozyme439.2F5, F2, F3, SERPINC1
6danaparoid439.1SERPINC1, F2, F5, F3
7ximelagatran43 1210.1F5, SERPINC1, F2, F3
8heparinoids439.1F5, F3, F2, SERPINC1
9phenprocoumon43 49 1211.1SERPINC1, F9, F3, F2
10bivalirudin43 1210.1SERPINC1, F3, F5, F2
11argatroban43 1210.0F5, F3, SERPINC1, F2
12protamine sulfate438.9SERPINC1, F2, F5, F3
13coumarins438.9F5, F9, F2, F3, APOH
14ppack438.9F3, VWF, F2, SERPINC1
15dextran sulfate438.9APOH, F9, F3, F5, SERPINC1
16fondaparinux438.8F5, F2, F9, F3, SERPINC1
17epsilon aminocaproic acid438.8F3, SERPINC1, F2, F9
18coumarin43 2 49 2411.8F5, F2, F9, SERPINC1, F3
19tributylphosphate438.8F8, F9, VWF
20tirofiban43 129.8F3, VWF, F2, SERPINC1
21rfviii438.8F5, F9, F8, VWF
22ticlopidine43 129.7F3, SERPINC1, APOH, VWF
23cacl2438.6F5, F8, F3, F9
24gamma-carboxyglutamic acid438.6F3, F9, F5, F2
25cardiolipin43 129.4APOH, F3, F5, F2, F8
26phosphatidylethanolamine43 129.3F5, F8, F2, APOH, F9
27dermatan sulfate438.3VWF, F5, F2, F9, SERPINC1, F3
28hydroxyethyl starch438.2SERPINC1, F8, F3, F2, VWF
29cyclophosphamide43 49 1210.0F3, F5, F8, F9, APOH, VWF
30acetaminophen43 2 49 24 1212.0F9, F8, VWF, F2, F5
31tranexamic acid43 128.9SERPINC1, F3, F8, F9, VWF, F2
32endotoxin437.9F5, KLKB1, F3, APOH, F9, F8
33prostacyclin437.9F8, APOH, VWF, SERPINC1, F3, F5
34kaolin437.8F5, F8, F3, F2, F9, F12
35aprotinin43 128.7F9, KLKB1, F5, SERPINC1, VWF, F2
36phosphatidylserine43 28 129.6F9, F2, F8, APOH, F3, F5
37phospholipid437.5VWF, F9, APOH, F3, F8, F5
38ristocetin437.5SERPINC1, F9, VWF, F2, F3, F8
39desmopressin43 59 28 1210.5F5, F8, F3, SERPINC1, F9, VWF
40hirudin437.5F5, F8, F3, SERPINC1, F9, VWF
41citrate437.5F5, F8, F2, F3, VWF, SERPINC1
42aspirin43 49 28 2410.2F8, F3, SERPINC1, APOH, F12, VWF
43warfarin43 49 24 1210.2F5, F8, F3, SERPINC1, APOH, F9
44homocysteine43 248.1F5, F8, F3, SERPINC1, F9, VWF
45creatinine437.1F3, F2, VWF, F9, APOH, SERPINC1
46kininogen437.1F2, F12, KLKB1, F5, APOH, F9
47estrogen436.9F8, APOH, F12, F9, SERPINC1, F2
48serine436.4F8, F5, VWF, KLKB1, F3, SERPINC1
49heparin43 28 24 129.2KLKB1, F5, F8, F3, SERPINC1, APOH
50fibrinogen436.2KLKB1, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrixGO:00310129.3F3, APOH, VWF
2platelet alpha granule lumenGO:00310938.4VWF, F8, F5
3extracellular spaceGO:00056156.7KLKB1, F2, F12, APOH, SERPINC1, F3
4plasma membraneGO:00058866.6F2, F9, F12, SERPINC1, F3, F8
5extracellular regionGO:00055766.5F2, VWF, F9, F12, SERPINC1, F8

Biological processes related to Factor Xii Deficiency according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:000759810.0F3, F9
2Factor XII activationGO:00025429.8KLKB1, F12
3positive regulation of fibrinolysisGO:00519199.8KLKB1, F12
4zymogen activationGO:00316389.7F12, KLKB1
5negative regulation of fibrinolysisGO:00519189.6APOH, F2
6plasminogen activationGO:00316399.6KLKB1, APOH
7peptidyl-glutamic acid carboxylationGO:00171879.6F9, F2
8positive regulation of blood coagulationGO:00301949.6F2, F12, APOH
9response to woundingGO:00096119.4VWF, F2
10fibrinolysisGO:00427309.3KLKB1, F12, F2
11platelet degranulationGO:00025768.9VWF, F8, F5
12proteolysisGO:00065088.9F2, F9, KLKB1
13acute-phase responseGO:00069538.8F8, F2
14platelet activationGO:00301688.4F2, VWF, F8, F5
15blood coagulation, intrinsic pathwayGO:00075977.3F2, VWF, F9, F12, APOH, F8
16blood coagulationGO:00075966.5KLKB1, F2, VWF, F9, F12, SERPINC1

Molecular functions related to Factor Xii Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycoprotein bindingGO:00019489.3APOH, VWF
2copper ion bindingGO:00055079.2F5, F8
3protease bindingGO:00020209.1VWF, SERPINC1, F3
4serine-type endopeptidase activityGO:00042527.5KLKB1, F2, F9, F12, F8, F5
5protein bindingGO:00055156.1F2, VWF, F12, APOH, SERPINC1, F3

Products for genes affiliated with Factor Xii Deficiency

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Sources for Factor Xii Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet