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, liver and heart, 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, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 20GeneTests, 22GTR, 48Orphanet, 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
f12 deficiency 42
haf 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:

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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, Liver, Heart

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:00053857.8PLAU, KLKB1, F9, F11, F3, F2
3MP:00036316.8F5, SERPINC1, PLAU, F2, VWF, F3
4MP:00053976.8SERPINC1, PLAU, F2, F11, VWF, F3
5MP:00053876.7SERPINC1, PLAU, F11, F2, F9, VWF
6MP:00107686.2PLAU, APOH, F9, F8, F5, F11
7MP:00053765.1F5, KNG1, F12, F8, F9, APOH

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
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
2
Genetic analysis of a pedigree with combined factor XII and factor XI deficiency. (21192253)
2011
3
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. (22043782)
2011
4
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. (20386432)
2010
5
Implications for cardiac surgery in patients with factor XII deficiency. (20103363)
2010
6
Rosai-Dorfman disease with factor XII deficiency. (19326165)
2009
7
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
8
A complete factor XII deficiency does not affect coagulopathy, inflammatory responses, and lethality, but attenuates early hypotension in endotoxemic mice. (18761719)
2008
9
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
10
Deep venous thrombosis, protein S deficiency and homozygous Factor XII 46T mutation. (15912386)
2005
11
Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. (16015420)
2005
12
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
13
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
14
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. (15205584)
2004
15
Characterization of factor XII Tenri, a rare CRM-negative factor XII deficiency. (15228238)
2004
16
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
17
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
18
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
19
Factor XII deficiency: a possible cause of livedo with ulceration? (11069485)
2000
20
Factor XII deficiency in women with recurrent miscarriage. (10671812)
2000
21
Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it. (10728027)
2000
22
Hereditary deficiency of antithrombin III, protein C, protein S and factor XII in 121 patients with venous or arterial thrombosis]. (10377836)
1999
23
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. (10544906)
1999
24
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. (10361128)
1999
25
Pseudo factor XII deficiency and phospholipid antibodies. (8743205)
1996
26
Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency. (8639777)
1996
27
Subdural haematoma and factor XII deficiency in a Chinese infant. (8509201)
1993
28
Transient lupus anticoagulant associated with hypoprothrombinemia and factor XII deficiency following adenovirus infection. (8394145)
1993
29
Management of cardiopulmonary bypass in a patient with congenital factor XII deficiency. (8400102)
1993
30
Lipolysis of triglyceride-rich lipoproteins activates coagulant factor XII: a study in familial lipoprotein-lipase deficiency. (1418087)
1992
31
BehAset's syndrome and factor XII deficiency. (1458795)
1992
32
Fibrinolytic studies in 13 unrelated families with factor XII deficiency. (2055558)
1991
33
Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families. (1905067)
1991
34
Cardiopulmonary bypass in a patient with factor XII deficiency. (1888063)
1991
35
Superficial migratory thrombophlebitis and factor XII deficiency. (2110579)
1990
36
The Arthus reaction in cats deficient in Hageman factor (factor XII). (2138171)
1990
37
Factor XII deficiency associated with loin pain/haematuria syndrome. (2890925)
1987
38
Hereditary Hageman factor (factor XII) deficiency: report of three families and review of the literature published in Japan. (3811790)
1986
39
Combined dys-form of homozygous factor XI deficiency and heterozygous factor XII deficiency. (4029757)
1985
40
Congenital factor XII deficiency: successful open heart surgery and anticoagulation. (3879475)
1985
41
Defective intrinsic fibrinolytic activity in a patient with severe factor XII-deficiency and myocardial infarction. (6463588)
1984
42
Cardiopulmonary bypass and Factor XII deficiency. (7232002)
1981
43
Recurrent thrombosis in a patient with factor XII deficiency. (6774556)
1980
44
Acquired factor XII Deficiency in a patient with nephrotic syndrome. (452949)
1979
45
Molecular heterogeneity of Hageman trait (factor XII deficiency): evidence that two of 49 subjects are cross-reacting material positive (CRM+). (110893)
1979
46
Factor XII deficiency with systemic lupus erythematosus. Biological implications. (426885)
1979
47
Moyamoya and Hageman factor (Factor XII) deficiency in a black adult. (655914)
1978
48
New families with factor XII deficiency. (5432189)
1970
49
Hageman factor (factor XII) deficiency in marine mammals. (5388978)
1969
50
Coagulation factor XII deficiency in the porpoise, Tursiops truncatus. (5367361)
1969

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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51QIAGEN, 12EMD Millipore, 53Reactome, 49PharmGKB, 29KEGG, 37NCBI BioSystems Database, 52R&D Systems
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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
1coumarins4410.0F3, APOH, F9
2acetaminophen44 2 49 11 2413.9F9
3warfarin44 49 11 2412.6F9, APOH, VWF, SERPINC1
4rfviii449.2F8, F5, VWF, F9
5inogatran449.1F5, SERPINC1, F3, F2
6ecarin449.1F2, SERPINC1, F5, F3
7organon449.1F9, F3, F2, SERPINC1
8spectrozyme449.1SERPINC1, F5, F2, F3
9acenocoumarol44 49 1111.1F3, F2, F9, F5
10danaparoid449.1F2, SERPINC1, F3, F5
11ximelagatran44 1110.0SERPINC1, F5, F3, F2
12cacl2449.0F8, F9, F3, F5
13dextran sulfate449.0KNG1, F11, F5, APOH, F9
14certoparin449.0SERPINC1, F3, F2
15heparinoids449.0SERPINC1, F5, F3, F2
16benzamidine44 1110.0PLAU, F5, F9, SERPINC1
17bivalirudin44 1110.0F3, F5, F2, SERPINC1
18phenprocoumon44 49 1111.0F9, F2, SERPINC1, F3
19argatroban44 1110.0F5, SERPINC1, F2, F3
20protamine sulfate448.9SERPINC1, F2, F5, F3
21fondaparinux448.8F5, SERPINC1, F2, F9, F3
22ppack448.8F2, SERPINC1, F3, VWF
23tirofiban44 119.8SERPINC1, F2, VWF, F3
24coumarin44 2 49 2411.7SERPINC1, F2, F9, F5, F3
25serine448.7KNG1, F9, F12, F11, F8
26epsilon aminocaproic acid448.6SERPINC1, PLAU, F2, F9, F3
27cyclophosphamide44 49 1110.5F9, APOH, F5, F3, F8, VWF
28heparin44 28 11 2411.5F11, KNG1, F8, APOH, F9, F12
29hydroxyethyl starch448.4SERPINC1, F2, VWF, F3, F8
30phosphatidylethanolamine44 119.4APOH, F9, F2, F8, F5
31endotoxin448.2APOH, F9, F8, KLKB1, F3, F5
32kaolin448.0APOH, F9, F8, F5, F12, F3
33pge1448.0VWF, F2, PLAU, F5, KNG1, APOH
34aprotinin44 118.9SERPINC1, PLAU, VWF, F3, KLKB1, F9
35phosphatidylserine44 28 119.8VWF, F8, F5, APOH, F9, F3
36citrate447.8SERPINC1, F2, VWF, F3, F5, F9
37tranexamic acid44 118.7PLAU, F2, VWF, F9, F8, F3
38prostacyclin447.6F8, APOH, PLAU, VWF, F3, SERPINC1
39dermatan sulfate447.5F9, F5, F11, F3, VWF, F2
40ristocetin447.4F9, F8, F5, F11, F3, VWF
41phospholipid447.4VWF, F2, F5, F8, APOH, F9
42homocysteine44 248.1APOH, F8, F5, F11, F3, VWF
43arginine447.1PLAU, VWF, KNG1, F5, F9, APOH
44creatinine447.0F5, APOH, F8, F3, VWF, F2
45hirudin446.9F5, F9, F8, F11, F3, VWF
46desmopressin44 59 28 119.9F3, VWF, F2, PLAU, SERPINC1, F11
47estrogen446.9VWF, F2, PLAU, SERPINC1, F12, F9
48aspirin44 49 28 249.5F3, F12, KNG1, F8, APOH, VWF
49kininogen446.0KLKB1, F9, APOH, F5, KNG1, F11
50fibrinogen445.9SERPINC1, F8, F5, F11, F3, VWF

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:0310129.5APOH, VWF, F3
2platelet alpha granule lumenGO:0310938.3F5, KNG1, VWF, F8
3extracellular spaceGO:0056155.7APOH, PLAU, F2, F3, F12, F11
4plasma membraneGO:0058865.5KLKB1, F9, F8, F5, KNG1, F11
5extracellular regionGO:0055765.5SERPINC1, KLKB1, PLAU, F2, VWF, F12

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

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

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

Products for genes affiliated with Factor Xii Deficiency

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  • Antibodies
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet