MCID: FCT004
MIFTS: 51

Factor Xii Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Factor Xii Deficiency

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Aliases & Descriptions for Factor Xii Deficiency:

Name: Factor Xii Deficiency 49 10 11 45 22 47 12 67 36 65
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

Characteristics:

HPO:

61
factor xii deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 234000
Disease Ontology10 DOID:2231
SNOMED-CT59 46981006
MeSH36 D005175
MedGen34 C0015526
UMLS65 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 thrombophilia and myocardial infarction, and has symptoms including prolonged whole-blood clotting time, reduced factor xii activity and prolonged partial thromboplastin 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 Platelet activation, signaling and aggregation. Affiliated tissues include testes, b cells and prostate, and related mouse phenotypes are nervous system and cardiovascular system.

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 131)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia28.9F3, F5, SERPINC1
2myocardial infarction27.3F12, F3, F5, F9, SERPINC1, VWF
3congenital factor xii deficiency12.3
4von willibrand disease, type 310.3F3, VWF
5acquired thrombocytopenia10.3F3, VWF
6babesiosis10.3F3, F9
7esophagus melanoma10.3F3, SERPINC1
8cyclothymic disorder10.2F3, SERPINC1
9bubonic plague10.2F3, VWF
10fowler's syndrome10.2F3, SERPINC1
11horner's syndrome10.2F12, F9
12cavernous hemangioma of colon10.2F3, SERPINC1
13silo filler's disease10.2F3, SERPINC1
14thumb absent short stature immune deficiency10.2F3, VWF
15abducens nerve neoplasm10.2F3, SERPINC1
16thrombophilia, x-linked, due to factor ix defect10.2F3, F9
17kidney sarcoma10.2F3, SERPINC1
18al gazali aziz salem syndrome10.2F9, VWF
19glycerol kinase deficiency, adult form10.1F3, SERPINC1
20benign epilepsy with centrotemporal spikes10.1F3, F5
21catatrichy10.0F3, F5
22intraocular lymphoma10.0SERPINC1, VWF
23retinitis10.0
24acquired hypoprothrombinemia10.0F5, F9
25acquired hemophilia a10.0F5, F9
26coagulation protein disease10.0F3, F5
27crohn's disease10.0F5, VWF
28tetanus10.0F3, F5
29thrombocytopenia cerebellar hypoplasia short stature10.0F3, F5
30acute kidney tubular necrosis10.0F3, VWF
31dysthymic disorder9.9F5, VWF
32alcohol-induced mental disorder9.9F3, SERPINC1
33retinal vein occlusion9.9
34von willebrand's disease9.9
35gout9.9
36cerebritis9.9
37basilar artery insufficiency9.9F3, SERPINC1
38spinocerebellar atrophy9.9F5, SERPINC1
39lateral sinus thrombosis9.9F5, SERPINC1
40benign pericardial teratoma9.9F3, F9, VWF
41pericardial mesothelioma9.9F5, SERPINC1
42thrombophilia due to thrombin defect9.9F5, SERPINC1
43fissured tongue9.9F5, SERPINC1
44cerebrovascular disease9.9F5, SERPINC1
45panic disorder9.9F5, SERPINC1
46sesame syndrome9.8F5, SERPINC1
47west nile encephalitis9.8F5, SERPINC1
48maple bark strippers' lung9.8F5, SERPINC1
49eccrine sweat gland neoplasm9.8F5, SERPINC1
50colonic pseudo-obstruction9.8F5, SERPINC1

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 prolonged whole-blood clotting time HP:0005542
2 reduced factor xii activity HP:0004841
3 prolonged partial thromboplastin time HP:0003645

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protease Inhibitors4558
2Vasodilator Agents2926
3Kininogens47
4HIV Protease Inhibitors4558
5
Bradykinin4758-82-2439201
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
6cysteineNutraceutical150

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

Anatomical Context for Factor Xii Deficiency

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MalaCards organs/tissues related to Factor Xii Deficiency:

33
Testes, B cells, Prostate, Tongue, T cells, Breast, Ovary

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:00036317.6F12, F3, F5, SERPINC1, VWF
2MP:00053857.5F3, F5, F9, SERPINC1, VWF
3MP:00053766.8F12, F3, F5, F9, SERPINC1, VWF

Publications for Factor Xii Deficiency

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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 115)
idTitleAuthorsYear
1
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. (26950760)
2016
2
Novel mutations in congenital factor XII deficiency. (26709783)
2016
3
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. (26882823)
2015
4
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. (25419425)
2014
5
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
6
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
7
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. (23348490)
2012
8
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
9
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. (22043782)
2011
10
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
11
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. (21297451)
2011
12
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. (20386432)
2010
13
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
14
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
15
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
16
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. (17499688)
2007
17
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
18
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
19
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
20
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. (16130082)
2005
21
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. (15013868)
2004
22
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
23
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
24
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
25
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
26
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
27
Factor XII deficiency: a possible cause of livedo with ulceration? (11069485)
2000
28
A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency]. (10517121)
1999
29
Reevaluation of the incidence of thromboembolic complications in congenital factor XII deficiency--a study on 73 subjects from 14 Swiss families. (10544906)
1999
30
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. (9473199)
1998
31
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. (8865545)
1996
32
Factor XII deficiency and cardiopulmonary bypass. (7795307)
1995
33
Factor XII deficiency and central retinal vein occlusion. (1353152)
1992
34
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. (1550105)
1992
35
Thrombosis in subjects with homozygous and heterozygous factor XII deficiency. (1519222)
1992
36
Factor XII deficiency and pregnancy. (1870803)
1991
37
Superficial migratory thrombophlebitis and factor XII deficiency. (2110579)
1990
38
Combined von Willebrand's disease and factor XII deficiency in a carrier of haemophilia B. (2788552)
1989
39
Factor XII deficiency associated with loin pain/haematuria syndrome. (2890925)
1987
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
Hereditary Hageman factor (factor XII) deficiency: report of three families and review of the literature published in Japan. (3811790)
1986
43
Myocardial infarction with normal coronary arteries and factor XII deficiency. (3966962)
1985
44
Defective intrinsic fibrinolytic activity in a patient with severe factor XII-deficiency and myocardial infarction. (6463588)
1984
45
Factor XII deficiency in a man with gout and angioimmunoblastic lymphadenopathy. (6732412)
1984
46
Classic gout in Hageman factor (Factor XII) deficiency. (7103639)
1982
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
1platelet alpha granule lumenGO:00310939.6F5, VWF
2endoplasmic reticulum lumenGO:00057889.1F5, F9
3extracellular regionGO:00055768.3F12, F5, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1zymogen activationGO:00316389.5F12, F9
2response to woundingGO:00096119.2F3, VWF

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