MCID: FCT004
MIFTS: 67

Factor Xii Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Factor Xii Deficiency

About this section


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 based summary: Factor Xii Deficiency, also known as hageman factor deficiency, is related to myocardial infarction 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: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

About this section
Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 12DISEASES, 45Novoseek, 62UMLS, 49Orphanet, 22GeneTests, 24GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 28ICD10 via Orphanet
See all sources

Factor Xii Deficiency, Aliases & Descriptions:

Name: Factor Xii Deficiency 47 10 11 43 12 45 62
Hageman Factor Deficiency 10 43 62
Factor 12 Deficiency 43 22 24
Congenital Hageman Factor Deficiency 43 49
Coagulation Factor 12 Deficiency 43 62
Congenital Factor Xii Deficiency 43 49
 
Factor Xii Deficiency Disease 10 62
Factor Xiii Deficiency 62
Deficiency, Hageman 10
F12 Deficiency 43
Haf Deficiency 43


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 life expectancy


External Ids:

OMIM47 234000
Disease Ontology10 DOID:2231
MeSH35 D005175
SNOMED-CT57 46981006
NCIt40 C26770
Orphanet49 330
ICD10 via Orphanet28 D68.2

Related Diseases for Factor Xii Deficiency

About this section

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction30.7VWF, F9, SERPINC1, F3, F8, F5
2retinal vein occlusion30.5APOH, SERPINC1, F5
3von willebrand's disease30.4F2, VWF, F9, F3, F8
4central retinal vein occlusion30.3F5, APOH
5thrombophlebitis30.3APOH, F8
6hypoprothrombinemia30.2F2, APOH, SERPINC1, F5
7thrombocytosis30.2F2, VWF, SERPINC1, F3
8lupus erythematosus30.2F5, F3, SERPINC1, APOH, F2
9systemic lupus erythematosus30.2F2, VWF, APOH, F3, F8
10hemophilia a30.1F8, F5, F3, SERPINC1, F9, F2
11thrombophilia30.0F2, VWF, F9, F12, APOH, SERPINC1
12retinitis10.4
13cerebritis10.3
14gout10.3
15chediak-higashi syndrome10.2
16hereditary spastic paraplegia10.2
17pharyngitis10.2
18hemolytic-uremic syndrome10.2
19lemierre's syndrome10.2
20nephrotic syndrome10.2
21neuritis10.2
22paraplegia10.2
23hemophilia10.2
24cluster headache10.2
25rosai-dorfman disease10.2
26headache10.2
27spasticity10.2
28retinal artery occlusion10.1APOH
29carotid artery thrombosis10.1F3
30coumarin resistance10.1F9
31patent foramen ovale10.1F5
32purpura10.1SERPINC1
33branch retinal artery occlusion10.1F5
34eclampsia10.1SERPINC1
35homocysteinemia10.1F5
36angiodysplasia10.0VWF
37glanzmann thrombasthenia10.0VWF
38hypersplenism10.0F2
39factor xiii deficiency10.0F3, F5
40hemorrhagic disease10.0F9, F12
41sneddon syndrome10.0APOH, SERPINC1
42mondor disease10.0F5, APOH
43retinal vascular occlusion10.0F5, APOH
44sagittal sinus thrombosis10.0SERPINC1, F5
45post-thrombotic syndrome10.0F5, SERPINC1
46legg-calve-perthes disease10.0SERPINC1, F5
47cerebrovascular disease10.0F12, APOH
48vitamin k deficiency hemorrhagic disease10.0F3, F2
49placental abruption10.0SERPINC1, F5
50peripheral vascular disease10.0VWF, F3

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



Diseases related to factor xii deficiency

Symptoms for Factor Xii Deficiency

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Factor Xii Deficiency

Search NIH Clinical Center for Factor Xii Deficiency

Genetic Tests for Factor Xii Deficiency

About this section

Genetic tests related to Factor Xii Deficiency:

id Genetic test Affiliating Genes
1 Factor Xii Deficiency22 F12
2 Factor Xii Deficiency Disease24

Anatomical Context for Factor Xii Deficiency

About this section

MalaCards organs/tissues related to Factor Xii Deficiency:

33
Testes, Whole blood, Heart, Liver

Animal Models for Factor Xii Deficiency or affiliated genes

About this section

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

About this section

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

About this section

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:

7
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

About this section

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

Pathways for genes affiliated with Factor Xii Deficiency

About this section

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 Pathway38
Complement and Coagulation Cascades38
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

About this section

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

(show top 50)    (show all 160)
idCompoundScoreTop Affiliating Genes
1organon459.2F9, F2, SERPINC1, F3
2inogatran459.2F3, F5, F2, SERPINC1
3acenocoumarol45 51 1311.2F9, F2, F3, F5
4ecarin459.2F3, SERPINC1, F5, F2
5spectrozyme459.2F5, F2, F3, SERPINC1
6danaparoid459.1SERPINC1, F2, F5, F3
7ximelagatran45 1310.1F5, SERPINC1, F2, F3
8heparinoids459.1F5, F3, F2, SERPINC1
9phenprocoumon45 51 1311.1SERPINC1, F9, F3, F2
10bivalirudin45 1310.1SERPINC1, F3, F5, F2
11argatroban45 1310.0F5, F3, SERPINC1, F2
12protamine sulfate458.9SERPINC1, F2, F5, F3
13coumarins458.9F5, F9, F2, F3, APOH
14ppack458.9F3, VWF, F2, SERPINC1
15dextran sulfate458.9APOH, F9, F3, F5, SERPINC1
16fondaparinux458.8F5, F2, F9, F3, SERPINC1
17epsilon aminocaproic acid458.8F3, SERPINC1, F2, F9
18coumarin45 3 51 2611.8F5, F2, F9, SERPINC1, F3
19tributylphosphate458.8F8, F9, VWF
20tirofiban45 139.8F3, VWF, F2, SERPINC1
21rfviii458.8F5, F9, F8, VWF
22ticlopidine45 139.7F3, SERPINC1, APOH, VWF
23cacl2458.6F5, F8, F3, F9
24gamma-carboxyglutamic acid458.6F3, F9, F5, F2
25cardiolipin45 139.4APOH, F3, F5, F2, F8
26phosphatidylethanolamine45 139.3F5, F8, F2, APOH, F9
27dermatan sulfate458.3VWF, F5, F2, F9, SERPINC1, F3
28hydroxyethyl starch458.2SERPINC1, F8, F3, F2, VWF
29cyclophosphamide45 51 1310.0F3, F5, F8, F9, APOH, VWF
30acetaminophen45 3 51 26 1312.0F9, F8, VWF, F2, F5
31tranexamic acid45 138.9SERPINC1, 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 138.7F9, KLKB1, F5, SERPINC1, VWF, F2
36phosphatidylserine45 30 139.6F9, F2, F8, APOH, F3, F5
37phospholipid457.5VWF, F9, APOH, F3, F8, F5
38ristocetin457.5SERPINC1, F9, VWF, F2, F3, F8
39desmopressin45 61 30 1310.5F5, F8, F3, SERPINC1, F9, VWF
40hirudin457.5F5, F8, F3, SERPINC1, F9, VWF
41citrate457.5F5, F8, F2, F3, VWF, SERPINC1
42aspirin45 51 30 2610.2F8, F3, SERPINC1, APOH, F12, VWF
43warfarin45 51 26 1310.2F5, F8, F3, SERPINC1, APOH, F9
44homocysteine45 268.1F5, 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 30 26 139.2KLKB1, F5, F8, F3, SERPINC1, APOH
50fibrinogen456.2KLKB1, F5, F8, F3, SERPINC1, APOH

GO Terms for genes affiliated with Factor Xii Deficiency

About this section

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

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/GeneDecks:

(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/GeneDecks:

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Factor Xii Deficiency

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet