MCID: FCT004
MIFTS: 51

Factor Xii Deficiency malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Xii Deficiency

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Aliases & Descriptions for Factor Xii Deficiency:

Name: Factor Xii Deficiency 52 11 48 24 70 12 50 39 13 68
Hageman Factor Deficiency 11 48 24 70
Factor 12 Deficiency 48 24 27
Haf Deficiency 48 24 70
F12 Deficiency 48 24
Congenital Hageman Factor Deficiency 54
 
Congenital Factor Xii Deficiency 54
Coagulation Factor 12 Deficiency 48
Factor Xii Deficiency Disease 11
Coagulation Factor Xii 12
Deficiency, Hageman 11
Fa12d 70

Characteristics:

Orphanet epidemiological data:

54
congenital hageman factor deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
factor xii deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 234000
Disease Ontology11 DOID:2231
MeSH39 D005175
SNOMED-CT62 46981006
Orphanet54 ORPHA330
ICD10 via Orphanet31 D68.2
MedGen37 C0015526

Summaries for Factor Xii Deficiency

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NIH Rare Diseases:48 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 thrombophilia and myocardial infarction, and has symptoms including prolonged partial thromboplastin time, reduced factor xii activity and prolonged whole-blood clotting time. An important gene associated with Factor Xii Deficiency is F12 (Coagulation Factor XII), and among its related pathways are Collagen biosynthesis and modifying enzymes and Formation of Fibrin Clot (Clotting Cascade). Affiliated tissues include testes, whole blood and heart, and related mouse phenotypes are embryo and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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:71 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:52 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 111)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia28.6APOH, F5, SERPINC1
2myocardial infarction28.5F3, F5, SERPINC1
3renal cell carcinoma, papillary10.2
4congenital nystagmus10.2F3, F9
5factor x deficiency10.2F3, F9
6ariboflavinosis10.2F3, SERPINC1
7myiasis10.2F3, SERPINC1
8cavernous sinus thrombosis10.2F3, SERPINC1
9cavernous hemangioma of face10.2F3, SERPINC1
10marek disease10.2F3, SERPINC1
11ovarian gonadoblastoma10.1F3, SERPINC1
12angioedema10.1
13subacute lymphocytic thyroiditis10.1APOH, F3
14dmd-related dilated cardiomyopathy10.1F3, SERPINC1
15lateral cystocele10.1F3, SERPINC1
16chronic diarrhea due to guanylate cyclase 2c overactivity10.1F3, SERPINC1
17lymphatic system cancer10.1F3, SERPINC1
18scapuloperoneal myopathy, x-linked dominant10.1F3, F9
19lujo hemorrhagic fever10.1F3, SERPINC1
20coronary restenosis10.1F3, SERPINC1
21colon carcinoma in situ10.1F3, SERPINC1
22dermatitis10.1F3, SERPINC1
23tollner horst manzke syndrome10.1F3, SERPINC1
24xfe progeroid syndrome10.1F9, SERPINC1
25fiedler's myocarditis10.1F3, SERPINC1
26sacrococcygeal teratoma10.0APOH, SERPINC1
27platelet storage pool deficiency10.0F3, SERPINC1
28microcytic anemia10.0F3, SERPINC1
29focal epilepsy10.0F3, SERPINC1
30ischemic heart disease10.0APOH, SERPINC1
31blood group incompatibility10.0APOH, F3
32angina pectoris10.0F3, SERPINC1
33coenzyme q cytochrome c reductase deficiency of9.9APOH, F5
34onychocytic matricoma9.9APOH, F5
35idiopathic central precocious puberty9.9F3, F5
36unicentric castleman disease9.9APOH, F5
37pregnancy loss, recurrent 19.9APOH, F5
38retinitis9.9
39mixed mineral dust pneumoconiosis9.9APOH, SERPINC1
40childhood central nervous system germinoma9.9APOH, F5
41thrombocytopenia with elevated serum iga and renal disease9.9F3, F5
42noma9.9APOH, F5
43thyroid hyalinizing trabecular adenoma9.8F5, SERPINC1
44retinal vein occlusion9.8
45von willebrand's disease9.8
46gout9.8
47cerebritis9.8
48polyhydramnios9.8F5, SERPINC1
49functional colonic disease9.8F5, SERPINC1
50adult respiratory distress syndrome9.8F3, SERPINC1

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



Diseases related to factor xii deficiency

Symptoms & Phenotypes for Factor Xii Deficiency

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Symptoms by clinical synopsis from OMIM:

234000

Clinical features from OMIM:

234000

Human phenotypes related to Factor Xii Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time64 HP:0003645
2 reduced factor xii activity64 HP:0004841
3 prolonged whole-blood clotting time64 HP:0005542

MGI Mouse Phenotypes related to Factor Xii Deficiency according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1F3, F5, F9, SERPINC1
2MP:00053767.1APOH, F12, F3, F5, F9, SERPINC1

Drugs & Therapeutics for Factor Xii Deficiency

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hemostatics1359
2Coagulants1428
3
protease inhibitors5320
Synonyms:
 
protease inhibitors
4Kininogens50
5HIV Protease Inhibitors5319
6Vasodilator Agents3438
7
Bradykinin5058-82-2439201
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
8cysteineNutraceutical190

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Proteins of the Contact Activation SystemRecruitingNCT02785718
2Thrombus Formation Under Different Flow-conditionsEnrolling by invitationNCT01114074

Search NIH Clinical Center for Factor Xii Deficiency


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 Deficiency Disease27
2 Factor Xii Deficiency24 F12

Anatomical Context for Factor Xii Deficiency

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MalaCards organs/tissues related to Factor Xii Deficiency:

36
Testes, Whole blood, Heart, Liver

Publications for Factor Xii Deficiency

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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 116)
idTitleAuthorsYear
1
Novel mutations in congenital factor XII deficiency. (26709783)
2016
2
Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. (28007010)
2016
3
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. (26950760)
2016
4
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. (26882823)
2015
5
Prevalent factor XII deficiency in cancer patients with isolated aPTT prolongation. (26157783)
2015
6
Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency]. (26037346)
2015
7
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. (25419425)
2014
8
Molecular Characterization of Cat Factor XII Gene and Identification of a Mutation Causing Factor XII Deficiency in a Domestic Shorthair Cat Colony. (24793828)
2014
9
Cardiopulmonary Bypass in a Patient with Factor XII Deficiency. (26357791)
2014
10
Factor XII Deficiency and Cardiopulmonary Bypass. (26357792)
2014
11
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
12
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
13
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. (23348490)
2012
14
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
15
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. (21297451)
2011
16
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
17
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. (22043782)
2011
18
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. (20022356)
2010
19
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. (20386432)
2010
20
Implications for cardiac surgery in patients with factor XII deficiency. (20103363)
2010
21
Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. (20729721)
2010
22
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
23
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. (18392695)
2009
24
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (19934572)
2009
25
Rosai-Dorfman disease with factor XII deficiency. (19326165)
2009
26
Relationship between factor XII deficiency and thrombosis: the debate is still open? (19353242)
2009
27
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
28
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
29
Aortic valve repair in a patient with factor XII deficiency. (18503953)
2008
30
A complete factor XII deficiency does not affect coagulopathy, inflammatory responses, and lethality, but attenuates early hypotension in endotoxemic mice. (18761719)
2008
31
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. (17499688)
2007
32
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
33
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
34
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
35
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. (16324213)
2005
36
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. (16130082)
2005
37
Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. (16015420)
2005
38
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
39
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
40
Thrombosis-free surgical procedures in severe (Homozygote) factor XII deficiency: report of four additional cases and literature review. (15497021)
2004
41
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. (15205584)
2004
42
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
43
Characterization of factor XII Tenri, a rare CRM-negative factor XII deficiency. (15228238)
2004
44
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
45
Factor XII deficiency and recurrent sixth nerve palsy. (12598465)
2003
46
Molecular characterization of coagulation factor XII deficiency in a Japanese family. (12876626)
2003
47
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
48
Huge left atrial thrombus with mitral stenosis in congenital factor XII deficiency. (11834028)
2002
49
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
50
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001

Variations for Factor Xii Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Factor Xii Deficiency:

70 (show all 11)
id Symbol AA change Variation ID SNP ID
1F12p.Arg372ProVAR_006623rs118204454
2F12p.Cys590SerVAR_006624
3F12p.Tyr53CysVAR_014426rs118204455
4F12p.Arg142ProVAR_031500
5F12p.Ala411ThrVAR_031503rs865853663
6F12p.Leu414MetVAR_031504
7F12p.Arg417GlnVAR_031505
8F12p.Gln440LysVAR_031506
9F12p.Asp461AsnVAR_031507
10F12p.Trp505CysVAR_031508
11F12p.Gly589ArgVAR_031509rs766505234

Clinvar genetic disease variations for Factor Xii Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1F12;SLC34A1NM_000505.3(F12): c.1681-1G> ASNVLikely pathogenic, Pathogenicrs199988476GRCh37Chr 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:00700628.6APOH, F12, F3, F9, SERPINC1
2extracellular regionGO:00055768.4APOH, F12, F5, F9, SERPINC1
3extracellular spaceGO:00056157.9APOH, F12, F3, F5, F9, SERPINC1
4plasma membraneGO:00058867.1APOH, F12, F3, F5, F9, SERPINC1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:000759810.1F3, F9
2protein processingGO:001648510.0F12, F3
3positive regulation of blood coagulationGO:00301949.8APOH, F12
4platelet degranulationGO:00025769.6APOH, F5
5zymogen activationGO:00316389.5F12, F9
6regulation of blood coagulationGO:00301939.5APOH, F12
7blood coagulation, intrinsic pathwayGO:00075979.3APOH, F12, F9
8blood coagulationGO:00075968.5F12, F3, F5, F9, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1peptidase activityGO:000823310.2F12, F9
2protease bindingGO:000202010.1F3, SERPINC1
3phospholipid bindingGO:00055439.8APOH, F3
4serine-type endopeptidase activityGO:00042528.5F12, F3, F5, F9

Sources for Factor Xii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet