MCID: FCT004
MIFTS: 48

Factor Xii Deficiency malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Factor Xii Deficiency

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Aliases & Descriptions for Factor Xii Deficiency:

Name: Factor Xii Deficiency 49 10 11 45 47 12 65 36 67
Hageman Factor Deficiency 10 45 22 67
Factor 12 Deficiency 45 22 24
Haf Deficiency 45 22 67
F12 Deficiency 45 22
 
Coagulation Factor 12 Deficiency 45
Factor Xii Deficiency Disease 10
Deficiency, Hageman 10
Fa12d 67


Classifications:



External Ids:

OMIM49 234000
Disease Ontology10 DOID:2231
NCIt42 C26770
SNOMED-CT59 46981006
MeSH36 D005175
MedGen34 C0015526

Summaries for Factor Xii Deficiency

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NIH Rare Diseases:45 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 retinitis and myocardial infarction, 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 Hemostasis and Collagen biosynthesis and modifying enzymes. Affiliated tissues include testes, whole blood and heart, and related mouse phenotype homeostasis/metabolism.

UniProtKB/Swiss-Prot:67 Factor XII deficiency: An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre- operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection).

Wikipedia:68 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:49 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 133)
idRelated DiseaseScoreTop Affiliating Genes
1retinitis30.3APOH, F5, SERPINC1
2myocardial infarction30.1F3, F5, F9, SERPINC1
3hypoprothrombinemia29.9APOH, F5, SERPINC1
4central retinal vein occlusion29.6APOH, F3, F5, SERPINC1
5thrombophlebitis29.3APOH, F3, F5, F9, SERPINC1
6congenital factor xii deficiency10.7
7retinal vein occlusion10.3
8gout10.3
9von willebrand's disease10.3
10cerebritis10.3
11systemic lupus erythematosus10.2
12chediak-higashi syndrome10.2
13hemophilia a10.2
14hereditary spastic paraplegia10.2
15thrombocytosis10.2
16pharyngitis10.2
17hemolytic-uremic syndrome10.2
18lemierre's syndrome10.2
19lupus erythematosus10.2
20nephrotic syndrome10.2
21neuritis10.2
22paraplegia10.2
23thrombophilia10.2
24hemophilia10.2
25cluster headache10.2
26rosai-dorfman disease10.2
27headache10.2
28spasticity10.2
29relapsing polychondritis10.1F3, SERPINC1
30irritable bowel syndrome10.1F3, SERPINC1
31fowler's syndrome10.1F3, SERPINC1
32hepatic cystic hamartoma10.1F3, SERPINC1
33thumb absent short stature immune deficiency10.1APOH, F3
34cervical alveolar soft part sarcoma10.1F3, SERPINC1
35nephropathia epidemica10.1F3, SERPINC1
36thrombophilia, x-linked, due to factor ix defect10.1F3, F9
37abducens nerve neoplasm10.1F3, SERPINC1
38congenital chloride diarrhea10.1F3, SERPINC1
39refractory hairy cell leukemia10.1APOH, F3
40bladder hepatoid adenocarcinoma10.1F3, SERPINC1
41lambert-eaton myasthenic syndrome10.1F3, SERPINC1
42xeroderma pigmentosum, group f10.1F9, SERPINC1
43hemorrhagic proctocolitis10.1F3, SERPINC1
44malignant otitis externa10.1F3, SERPINC1
45extrahepatic bile duct papillary adenoma10.1F3, SERPINC1
46chronic fatigue syndrome10.0F3, SERPINC1
47benign mastocytoma10.0F3, F5
48female reproductive endometrioid cancer10.0F3, F5
49intraocular lymphoma10.0APOH, SERPINC1
50mayer-rokitansky-kuster-hauser syndrome10.0APOH, F5

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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Drugs for Factor Xii Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bradykinin3858-82-2439201
Synonyms:
Callidin I
Kallidin 9
 
Kallidin I
L-Arginyl-L-prolyl-L-prolylglycyl-L-phenylalanyl-L-seryl-L-prolyl-L-phenylalanyl-L-Arginine
L-Bradykinin
2Kininogens38
3cysteineNutraceutical143

Interventional clinical trials:

idNameStatusNCT IDPhase
1Thrombus Formation Under Different Flow-conditionsRecruitingNCT01114074

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Cochrane evidence based reviews: 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 Deficiency22 F12
2 Factor Xii Deficiency Disease24

Anatomical Context for Factor Xii Deficiency

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MalaCards organs/tissues related to Factor Xii Deficiency:

33
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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.1APOH, F12, F3, F5, F9, SERPINC1

Publications for Factor Xii Deficiency

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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 110)
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
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:

67 (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:

5
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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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 exosomeGO:00700627.7APOH, F12, F3, F9, SERPINC1
2extracellular spaceGO:00056156.8APOH, F12, F3, F5, F9, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1zymogen activationGO:003163810.1F12, F9
2blood coagulation, extrinsic pathwayGO:00075989.9F3, F9
3positive regulation of blood coagulationGO:00301949.5APOH, F12
4regulation of blood coagulationGO:00301939.5APOH, F12
5blood coagulation, intrinsic pathwayGO:00075979.2APOH, F12, F9
6blood coagulationGO:00075967.1APOH, F12, F3, F5, F9, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.2F3, SERPINC1
2phospholipid bindingGO:00055439.2APOH, F3

Sources for Factor Xii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet