MCID: FCT004
MIFTS: 66

Factor Xii Deficiency malady

Blood diseases category

Summaries for Factor Xii Deficiency

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Factor Xii Deficiency, also known as factor xii deficiency disease, is related to myocardial infarction and factor v deficiency. An important gene associated with Factor Xii Deficiency is F12 (coagulation factor XII (Hageman factor)), and among its related pathways are MSP-RON Signaling and Cell adhesion Plasmin signaling. The compounds coumarins and acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and liver, and related mouse phenotypes are liver/biliary system and cardiovascular 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:46 234000

Aliases & Classifications for Factor Xii Deficiency

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 56SNOMED-CT, 39NCIt, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

factor xii deficiency 8 9 42 46 10 44 60
factor xii deficiency disease 8 20 22
factor xiii deficiency 10 44 60
hageman factor deficiency 8 42
congenital hageman factor deficiency 48
coagulation factor 12 deficiency 42
congenital factor xii deficiency 48
factor 12 deficiency 42
deficiency, hageman 8
haf deficiency 42
f12 deficiency 42


External Ids:

Disease Ontology8 DOID:2231
OMIM46 234000
NCIt39 C26770
SNOMED-CT56 46981006
MeSH34 D005175
ICD10 via Orphanet26 D68.2
SNOMED-CT via Orphanet57 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 166)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction30.6F3, VWF, SERPINC1, F11, KNG1, F9
2factor v deficiency30.5F2, F3, F5, F8
3rheumatoid arthritis30.4APOH
4glomerulonephritis30.4KNG1
5arthritis30.4KNG1
6retinal vein occlusion30.4SERPINC1, F5, APOH
7factor xi deficiency30.3F8, F9, F2, F3, F12, F11
8von willebrand's disease30.3F8, F2, VWF, F3, F11, F5
9purpura30.2SERPINC1
10hemolytic-uremic syndrome30.2VWF
11acute myocardial infarction30.2F3, VWF, SERPINC1
12central retinal vein occlusion30.2APOH, F5
13nephrotic syndrome30.2SERPINC1, F9
14arthropathy30.1F8, F9
15thrombophlebitis30.1APOH, F8
16leukemia30.1F11, F9, F8
17coronary thrombosis30.1SERPINC1, VWF, F3
18factor viii deficiency30.1F5, F8, F9, F3
19antithrombin iii deficiency30.1F2, F5, APOH, SERPINC1
20lupus erythematosus30.1SERPINC1, F2, F3, F5, APOH
21bernard-soulier syndrome30.1VWF, F2, F9, F8
22systemic lupus erythematosus30.1F2, VWF, APOH, F8, F3
23antiphospholipid syndrome30.1F2, VWF, F3, F5, F8, APOH
24thrombophilia30.1F9, F11, F12, F3, VWF, SERPINC1
25factor xiii deficiency11.3
26factor xiiia deficiency10.4
27factor xiiib deficiency10.4
28retinitis10.4
29gout10.3
30cerebritis10.3
31polycystic kidney disease10.1
32compartment syndrome10.1
33kidney disease10.1
34plasmacytoma10.1
35vaginitis10.1
36chediak-higashi syndrome10.1
37lemierre's syndrome10.1
38pharyngitis10.1
39hereditary spastic paraplegia10.1
40neuritis10.1
41paraplegia10.1
42hemophilia10.1
43atypical hemolytic-uremic syndrome10.1
44retinal artery occlusion10.0APOH
45ovarian hyperstimulation syndrome10.0F5
46amyloidosis10.0F9
47patent foramen ovale10.0F5
48migraine10.0APOH
49eclampsia10.0SERPINC1
50acute pancreatitis10.0KLKB1

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



Diseases related to factor xii deficiency

Clinical Features for Factor Xii Deficiency

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46OMIM
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Clinical features from OMIM:

234000

Clinical synopsis from OMIM:

234000

Drugs & Therapeutics for Factor Xii Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Factor Xii Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor Xii Deficiency

Search NIH Clinical Center for Factor Xii Deficiency

Search CenterWatch 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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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Factor Xii Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5SERPINC1, PLAU, F11, F5, F9
2MP:00053857.8KLKB1, F9, F11, F3, F2, PLAU
3MP:00036316.8F5, F11, F12, F3, VWF, F2
4MP:00053976.8F9, F8, F11, F3, VWF, F2
5MP:00053876.7F9, F8, F11, F3, VWF, F2
6MP:00107686.2F9, APOH, F8, F5, F11, F3
7MP:00053765.1SERPINC1, KLKB1, F9, APOH, F8, F5

Publications for Factor Xii Deficiency

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50PubMed
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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
2
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. (23348490)
2012
3
Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. (21192253)
2011
4
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
5
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. (20022356)
2010
6
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
7
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. (18392695)
2009
8
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
9
Aortic valve repair in a patient with factor XII deficiency. (18503953)
2008
10
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
11
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
12
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. (16130082)
2005
13
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. (16324213)
2005
14
Effects of coagulation factor deficiency on plasma coagulation kinetics determined via thrombelastography: critical roles of fibrinogen and factors II, VII, X and XII. (15715625)
2005
15
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
16
Huge left atrial thrombus with mitral stenosis in congenital factor XII deficiency. (11834028)
2002
17
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
18
Aortic valve replacement in a patient with factor XII deficiency: case report. (11380103)
2001
19
Factor XII deficiency associated with coronary stent thrombosis. (10911391)
2000
20
Combined von Willebrand factor deficiency and factor XII deficiency. (10744167)
2000
21
Factor XII deficiency in women with recurrent miscarriage. (10671812)
2000
22
Factor XII deficiency and cardiopulmonary bypass: use of a novel modification of the activated clotting time to monitor anticoagulation. (9357906)
1997
23
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)
1996
24
A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients. (8641707)
1996
25
Surgical management in the patient with congenital factor XII deficiency. Report of a case. (8108088)
1994
26
Congenital factor XII deficiency and lupus anticoagulant. (8061401)
1994
27
Congenital factor XII deficiency and cardiopulmonary bypass. (7979708)
1994
28
Factor XII deficiency and central retinal vein occlusion. (1353152)
1992
29
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. (1550105)
1992
30
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
31
Thrombosis in subjects with homozygous and heterozygous factor XII deficiency. (1519222)
1992
32
Functional characterization of a variant factor XII (F XII Locarno) in a cross reacting material positive F XII deficient plasma. (1621242)
1992
33
The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thromboembolism. (1440493)
1992
34
Cardiopulmonary bypass in a patient with factor XII deficiency. (1888063)
1991
35
Reduction of contact activation related fibrinolytic activity in factor XII deficient patients. Further evidence for the role of the contact system in fibrinolysis in vivo. (1833421)
1991
36
Superficial migratory thrombophlebitis and factor XII deficiency. (2110579)
1990
37
Determination of the minimal concentrations of contact activation factors in deficient substrate plasmas required to assess accurately factor XII, factor XI, factor IX, and high molecular weight kininogen. (2315884)
1990
38
Combined von Willebrand's disease and factor XII deficiency in a carrier of haemophilia B. (2788552)
1989
39
Thrombophilia with a combination of antithrombin III and factor XII deficiency. (3187943)
1988
40
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
41
Factor XII deficiency and von Willebrand's disease in a family of miniature poodle dogs. (3484442)
1986
42
Myocardial infarction with normal coronary arteries and factor XII deficiency. (3966962)
1985
43
Effect of factor XII deficiency on pregnancy and parturition. (462418)
1979
44
Factor XII deficiency with systemic lupus erythematosus. Biological implications. (426885)
1979
45
A new headache syndrome? Headache resembling cluster headache (Horton's headache), with recurring bouts of homolateral retrobulbar neuritis, partial factor XII deficiency, bleeding tendency and a heterolateral convulsive episode. (1254470)
1976
46
A new family with congenital factor XII deficiency. (812321)
1975
47
The human plasma kinin system. II. Contact activation of plasma prekallikrein and factor XI in factor XII-deficiency plasma. (4108176)
1971
48
New families with factor XII deficiency. (5432189)
1970
49
Myocardial infarction associated with severe factor-XII deficiency. (4162297)
1966
50
MODERATE FACTOR XII DEFICIENCY. (14285982)
1965

Genetic Variations for Factor Xii Deficiency

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Factor Xii Deficiency

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1BioGPS, 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:
51QIAGEN, 12EMD Millipore, 53Reactome, 49PharmGKB, 52R&D Systems, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Factor Xii Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4F12, F11, KLKB1
29.3PLAU, F12, KLKB1
3
Hide members
9.1F9, F3, F2
4
Hide members
8.6VWF, KNG1, F5, F8
5
Hide members
8.5F5, F12, F3, F2, SERPINC1
6
Hide members
8.1F3, VWF, F2, PLAU, SERPINC1
7
Hide members
7.6KLKB1, F9, F8, F5, KNG1, F11
8
Hide members
6.7KLKB1, F9, F8, F5, F11, F12
9
Hide members
5.3F2, VWF, F3, F12, F11, KNG1
10
Hide members
5.3SERPINC1, KLKB1, PLAU, F2, VWF, F3

Compounds for genes affiliated with Factor Xii Deficiency

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44Novoseek, 2BitterDB, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Factor Xii Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 172)
idCompoundScoreTop Affiliating Genes
1coumarins4410.0F9, APOH, F3
2acetaminophen44 2 49 11 2413.9F9
3warfarin44 49 11 2412.6SERPINC1, VWF, F9, APOH
4rfviii449.2F5, F9, F8, VWF
5tributylphosphate449.2VWF, F8, F9
6inogatran449.1SERPINC1, F2, F3, F5
7ecarin449.1SERPINC1, F5, F3, F2
8organon449.1F3, F9, F2, SERPINC1
9spectrozyme449.1F2, F5, F3, SERPINC1
10danaparoid449.1F5, F3, SERPINC1, F2
11acenocoumarol44 49 1111.1F2, F3, F5, F9
12ximelagatran44 1110.0F3, F2, SERPINC1, F5
13cacl2449.0F9, F8, F3, F5
14dextran sulfate449.0F11, KNG1, F5, APOH, F9
15heparinoids449.0SERPINC1, F3, F2, F5
16benzamidine44 1110.0F9, PLAU, SERPINC1, F5
17bivalirudin44 1110.0F5, SERPINC1, F2, F3
18phenprocoumon44 49 1111.0SERPINC1, F2, F9, F3
19argatroban44 119.9F3, SERPINC1, F2, F5
20protamine sulfate448.9F2, SERPINC1, F3, F5
21fondaparinux448.8F2, F3, SERPINC1, F5, F9
22ppack448.8F3, VWF, SERPINC1, F2
23tirofiban44 119.8F3, SERPINC1, F2, VWF
24coumarin44 2 49 2411.7F2, F3, SERPINC1, F9, F5
25serine448.7KNG1, F9, F8, F11, F12
26epsilon aminocaproic acid448.6PLAU, SERPINC1, F2, F3, F9
27cyclophosphamide44 49 1110.5VWF, F9, APOH, F8, F5, F3
28heparin44 28 11 2411.5F12, F11, KNG1, F8, F9, APOH
29hydroxyethyl starch448.4F3, SERPINC1, F8, VWF, F2
30phosphatidylethanolamine44 119.4F9, APOH, F5, F2, F8
31endotoxin448.2F5, F3, KLKB1, F8, APOH, F9
32kaolin448.0F9, APOH, F8, F5, F12, F3
33pge1448.0KNG1, F2, VWF, APOH, F5, PLAU
34aprotinin44 118.9SERPINC1, PLAU, VWF, F3, F11, F5
35phosphatidylserine44 28 119.8F5, F2, VWF, F3, F9, F8
36citrate447.8SERPINC1, VWF, F3, F8, F9, F2
37tranexamic acid44 118.7SERPINC1, PLAU, F9, F8, F3, VWF
38prostacyclin447.6VWF, F3, KNG1, F5, SERPINC1, F8
39dermatan sulfate447.5VWF, F3, F11, F5, F9, F2
40phospholipid447.4F2, VWF, F3, F11, F5, F8
41ristocetin447.4F9, F8, F5, F11, F3, VWF
42homocysteine44 248.1F9, APOH, F8, F5, F11, F3
43arginine447.1PLAU, VWF, KNG1, F5, F8, APOH
44creatinine447.0F9, F2, F3, F5, F8, APOH
45desmopressin44 59 28 119.9F9, F11, F3, VWF, F2, F8
46hirudin446.9SERPINC1, F5, F3, F11, F8, F9
47estrogen446.9F2, F5, F9, PLAU, VWF, F8
48aspirin44 49 28 249.5SERPINC1, PLAU, F8, APOH, F5, KNG1
49kininogen446.0SERPINC1, PLAU, F2, VWF, F3, F12
50fibrinogen445.9SERPINC1, PLAU, F2, VWF, F3, F11

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:0310129.5VWF, F3, APOH
2platelet alpha granule lumenGO:0310938.3F8, F5, KNG1, VWF
3extracellular spaceGO:0056155.7SERPINC1, KLKB1, APOH, F8, F5, KNG1
4plasma membraneGO:0058865.5F5, F8, F9, KLKB1, KNG1, F11
5extracellular regionGO:0055765.5F5, F8, F9, KLKB1, KNG1, F11

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:00759810.0F3, F9
2Factor XII activationGO:0025429.9F12, KLKB1
3zymogen activationGO:0316389.8KLKB1, F12
4negative regulation of blood coagulationGO:0301959.7KNG1, APOH
5positive regulation of fibrinolysisGO:0519199.6F12, F11, KLKB1
6plasminogen activationGO:0316399.5KLKB1, APOH, F11
7positive regulation of blood coagulationGO:0301949.3F2, F12, APOH
8negative regulation of fibrinolysisGO:0519189.3F2, APOH
9peptidyl-glutamic acid carboxylationGO:0171879.1F2, F9
10platelet degranulationGO:0025768.8F8, F5, KNG1, VWF
11fibrinolysisGO:0427308.7KLKB1, F12, F2, PLAU
12platelet activationGO:0301688.0F8, F5, KNG1, VWF, F2
13proteolysisGO:0065087.9KLKB1, F9, F11, F12, F2, PLAU
14blood coagulation, intrinsic pathwayGO:0075976.7F2, VWF, F12, F11, KNG1, F8
15blood coagulationGO:0075965.6SERPINC1, KLKB1, F9, PLAU, F2, VWF

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:0020209.5SERPINC1, VWF, F3
2serine-type aminopeptidase activityGO:0700099.5F12, F11
3heparin bindingGO:0082018.8APOH, KNG1, F11, SERPINC1
4serine-type endopeptidase activityGO:0042527.8PLAU, F2, F12, F11, F9, KLKB1
5protein bindingGO:0055155.3KNG1, F5, F8, APOH, KLKB1, F11

Products for genes affiliated with Factor Xii Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor Xii Deficiency

About this section
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