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 51 11 47 24 69 12 49 38 13 67
Hageman Factor Deficiency 11 47 24 69
Factor 12 Deficiency 47 24 26
Haf Deficiency 47 24 69
F12 Deficiency 47 24
Congenital Hageman Factor Deficiency 53
 
Congenital Factor Xii Deficiency 53
Coagulation Factor 12 Deficiency 47
Factor Xii Deficiency Disease 11
Coagulation Factor Xii 12
Deficiency, Hageman 11
Fa12d 69

Characteristics:

Orphanet epidemiological data:

53
congenital hageman factor deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
factor xii deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 234000
Disease Ontology11 DOID:2231
MeSH38 D005175
SNOMED-CT61 46981006
Orphanet53 ORPHA330
ICD10 via Orphanet30 D68.2
MedGen36 C0015526

Summaries for Factor Xii Deficiency

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NIH Rare Diseases:47 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:69 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:70 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:51 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 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:

 63
id Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time63 HP:0003645
2 reduced factor xii activity63 HP:0004841
3 prolonged whole-blood clotting time63 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):

(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 Disease26
2 Factor Xii Deficiency24 F12

Anatomical Context for Factor Xii Deficiency

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MalaCards organs/tissues related to Factor Xii Deficiency:

35
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:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.1F3, F5, F9, SERPINC1
2MP: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 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
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. (26882823)
2015
4
Prevalent factor XII deficiency in cancer patients with isolated aPTT prolongation. (26157783)
2015
5
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. (25419425)
2014
6
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. (23492916)
2013
7
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. (24269423)
2013
8
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
9
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. (21297451)
2011
10
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. (20022356)
2010
11
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (20043377)
2009
12
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. (18392695)
2009
13
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. (19934572)
2009
14
Rosai-Dorfman disease with factor XII deficiency. (19326165)
2009
15
A novel mutation in a patient with congenital coagulation factor XII deficiency. (18710647)
2008
16
High incidence of plasma factor XII deficiency in normal Korean subjects. (16165195)
2006
17
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. (16827880)
2006
18
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. (15617741)
2005
19
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. (16324213)
2005
20
Perioperative management of a patient with severe factor XII deficiency. (15678740)
2004
21
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. (15609524)
2004
22
Thrombosis-free surgical procedures in severe (Homozygote) factor XII deficiency: report of four additional cases and literature review. (15497021)
2004
23
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. (15205584)
2004
24
Factor XII deficiency is strongly associated with primary recurrent abortions. (12969703)
2003
25
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. (12297136)
2002
26
Is factor XII deficiency related to recurrent miscarriage? (11372764)
2001
27
Identification and characterization of two novel mutations (Q421K and R123P) in congenital factor XII deficiency. (11776307)
2001
28
A patient with isolated prolongation of aPTT without hemorrhagic diathesis anamnesis: severe, hereditary factor XII deficiency]. (10517121)
1999
29
Pseudo factor XII deficiency and phospholipid antibodies. (8743205)
1996
30
Thrombosis in subjects with homozygous and heterozygous factor XII deficiency. (1519222)
1992
31
BehAset's syndrome and factor XII deficiency. (1458795)
1992
32
The prevalence of factor XII deficiency in 103 orally anticoagulated outpatients suffering from recurrent venous and/or arterial thromboembolism. (1440493)
1992
33
Factor XII deficiency and pregnancy. (1870803)
1991
34
Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families. (1905067)
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
Combined von Willebrand's disease and factor XII deficiency in a carrier of haemophilia B. (2788552)
1989
37
Oral Mucosa Bleeding Times of Normal Cats and Cats with Chediak-Higashi Syndrome or Hageman Trait (Factor XII Deficiency). (15162339)
1988
38
Factor XII deficiency associated with loin pain/haematuria syndrome. (2890925)
1987
39
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
40
Factor XII deficiency and von Willebrand's disease in a family of miniature poodle dogs. (3484442)
1986
41
Hereditary Hageman factor (factor XII) deficiency: report of three families and review of the literature published in Japan. (3811790)
1986
42
Factor XII deficiency in a man with gout and angioimmunoblastic lymphadenopathy. (6732412)
1984
43
A case of coagulation factor XII deficiency showed weak clot-formation. (6676701)
1983
44
Classic gout in Hageman factor (Factor XII) deficiency. (7103639)
1982
45
Cardiopulmonary bypass and Factor XII deficiency. (7232002)
1981
46
Effect of factor XII deficiency on pregnancy and parturition. (462418)
1979
47
Diminished adhesiveness of platelets to collagen in a patient with factor XII deficiency. (644556)
1978
48
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
49
Coagulation factor XII deficiency in the porpoise, Tursiops truncatus. (5367361)
1969
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:

69 (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 regionGO:00055767.8APOH, F12, F5, F9, SERPINC1
2extracellular exosomeGO:00700627.7APOH, F12, F3, F9, SERPINC1
3extracellular spaceGO:00056157.3APOH, 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:000759810.0F3, F9
2protein processingGO:00164859.8F12, F3
3zymogen activationGO:00316389.7F12, F9
4regulation of blood coagulationGO:00301939.6APOH, F12
5platelet degranulationGO:00025769.3APOH, F5
6blood coagulation, intrinsic pathwayGO:00075979.2APOH, F12, F9
7positive regulation of blood coagulationGO:00301949.1APOH, F12
8blood coagulationGO:00075967.9F12, F3, F5, F9, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1peptidase activityGO:00082339.5F12, F9
2phospholipid bindingGO:00055439.5APOH, F3
3protease bindingGO:00020209.2F3, SERPINC1
4serine-type endopeptidase activityGO:00042528.4F12, F3, F5, F9

Sources for Factor Xii Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet