MCID: FCT004
MIFTS: 50

Factor Xii Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Xii Deficiency

MalaCards integrated aliases for Factor Xii Deficiency:

Name: Factor Xii Deficiency 53 12 49 71 36 13 51 41 14 69
Hageman Factor Deficiency 53 12 72 49 71
Haf Deficiency 53 49 71
Factor Xii Deficiency Disease 12 28
F12 Deficiency 53 49
Congenital Hageman Factor Deficiency 55
Coagulation Factor 12 Deficiency 49
Congenital Factor Xii Deficiency 55
Coagulation Factor Xii 13
Factor 12 Deficiency 49
Deficiency, Hageman 12
Fa12d 71

Characteristics:

Orphanet epidemiological data:

55
congenital factor xii deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
factor xii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 234000
Disease Ontology 12 DOID:2231
MeSH 41 D005175
SNOMED-CT 64 46981006
Orphanet 55 ORPHA330
UMLS via Orphanet 70 C0015526
ICD10 via Orphanet 33 D68.2
MedGen 39 C0015526
KEGG 36 H00941
SNOMED-CT via HPO 65 258211005 409675001
UMLS 69 C0015526

Summaries for Factor Xii Deficiency

NIH Rare Diseases : 49 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 hemophilia and thrombocytosis, 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/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Bradykinin and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include testes, whole blood and heart, and related phenotype is homeostasis/metabolism.

UniProtKB/Swiss-Prot : 71 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 : 72 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM: 234000

Related Diseases for Factor Xii Deficiency

Diseases related to Factor Xii Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 137)
# Related Disease Score Top Affiliating Genes
1 hemophilia 29.8 F3 F9
2 thrombocytosis 29.6 F3 SERPINC1
3 von willebrand's disease 29.2 F3 F5 F9
4 retinal vein occlusion 29.0 APOH F5 SERPINC1
5 hemophilia a 29.0 F3 F5 F9
6 thrombophlebitis 28.8 APOH F5 SERPINC1
7 central retinal vein occlusion 28.8 APOH F5 SERPINC1
8 factor xi deficiency 28.8 F12 F3 F9 SERPINC1
9 myocardial infarction 28.8 F3 F5 SERPINC1
10 thrombophilia due to thrombin defect 28.7 APOH F3 F5 SERPINC1
11 thrombosis 28.5 APOH F3 F5 F9 SERPINC1
12 thrombophilia 27.8 APOH F3 F5 F9 SERPINC1
13 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.2
14 hereditary angioedema 10.2
15 angioedema 10.2
16 pyoderma 10.1 APOH F3
17 intracranial sinus thrombosis 10.1 F3 SERPINC1
18 intestinal impaction 10.1 F3 SERPINC1
19 fournier gangrene 10.1 F3 SERPINC1
20 heparin-induced thrombocytopenia 10.1 F3 SERPINC1
21 leech infestation 10.1 F3 SERPINC1
22 factor vii deficiency 10.1 F3 F9
23 giant hemangioma 10.1 F3 SERPINC1
24 blue toe syndrome 10.1 F3 SERPINC1
25 angina pectoris 10.1 F3 SERPINC1
26 marantic endocarditis 10.1 F3 SERPINC1
27 purpura fulminans 10.1 F3 SERPINC1
28 korean hemorrhagic fever 10.1 F3 SERPINC1
29 thrombotic thrombocytopenic purpura 10.1 APOH F3
30 coronary thrombosis 10.1 F3 SERPINC1
31 hemorrhagic fever 10.1 F3 SERPINC1
32 intermediate coronary syndrome 10.1 F3 SERPINC1
33 pulmonary immaturity 10.1 F3 SERPINC1
34 hepatic vascular disease 10.1 F3 SERPINC1
35 congenital disorder of glycosylation, type ia 10.0 F9 SERPINC1
36 hepatic veno-occlusive disease 10.0 F3 SERPINC1
37 hepatitis a 10.0 F3 SERPINC1
38 afibrinogenemia, congenital 10.0 F3 SERPINC1
39 glanzmann thrombasthenia 10.0 F3 F9
40 intermittent claudication 10.0 APOH SERPINC1
41 retinitis 10.0
42 alzheimer disease 9.9
43 factor xiii deficiency 9.9 F3 F5
44 blood platelet disease 9.9 F3 SERPINC1
45 may-thurner syndrome 9.9 APOH F5
46 acanthamoeba keratitis 9.9 APOH F5
47 livedoid vasculopathy 9.9 APOH F5
48 endocarditis 9.9 APOH SERPINC1
49 pregnancy loss, recurrent 1 9.9 APOH F5
50 severe hemophilia a 9.9 F3 F5

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



Diseases related to Factor Xii Deficiency

Symptoms & Phenotypes for Factor Xii Deficiency

Symptoms via clinical synopsis from OMIM:

53
Misc:
no symptoms

Heme:
whole-blood clotting time prolonged
partial thromboplastin time prolonged
hageman factor deficiency
factor xii deficiency


Clinical features from OMIM:

234000

Human phenotypes related to Factor Xii Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 31 HP:0003645
2 reduced factor xii activity 31 HP:0004841
3 prolonged whole-blood clotting time 31 HP:0005542

MGI Mouse Phenotypes related to Factor Xii Deficiency:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.1 APOH F12 F3 F5 F9 SERPINC1

Drugs & Therapeutics for Factor Xii Deficiency

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bradykinin Investigational 58-82-2 439201
2 Coagulants
3 Hemostatics
4 HIV Protease Inhibitors
5 Kininogens
6
protease inhibitors
7 Vasodilator Agents
8 cysteine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Proteins of the Contact Activation System Recruiting NCT02785718
2 Thrombus Formation Under Different Flow-conditions Enrolling by invitation NCT01114074

Search NIH Clinical Center for Factor Xii Deficiency

Cochrane evidence based reviews: factor xii deficiency

Genetic Tests for Factor Xii Deficiency

Genetic tests related to Factor Xii Deficiency:

# Genetic test Affiliating Genes
1 Factor Xii Deficiency Disease 28 F12

Anatomical Context for Factor Xii Deficiency

MalaCards organs/tissues related to Factor Xii Deficiency:

38
Testes, Whole Blood, Heart, Liver

Publications for Factor Xii Deficiency

Articles related to Factor Xii Deficiency:

(show top 50) (show all 118)
# Title Authors Year
1
Genetic analysis of a novel missense mutation (Gly542Ser) with factor XII deficiency in a Chinese patient of consanguineous marriage. ( 29383625 )
2018
2
A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. ( 28392508 )
2017
3
Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. ( 28007010 )
2016
4
Novel mutations in congenital factor XII deficiency. ( 26709783 )
2016
5
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 )
2016
6
[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency]. ( 26037346 )
2015
7
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. ( 26882823 )
2015
8
Prevalent factor XII deficiency in cancer patients with isolated aPTT prolongation. ( 26157783 )
2015
9
Molecular Characterization of Cat Factor XII Gene and Identification of a Mutation Causing Factor XII Deficiency in a Domestic Shorthair Cat Colony. ( 24793828 )
2014
10
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. ( 25419425 )
2014
11
Factor XII Deficiency and Cardiopulmonary Bypass. ( 26357792 )
2014
12
Cardiopulmonary Bypass in a Patient with Factor XII Deficiency. ( 26357791 )
2014
13
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. ( 23492916 )
2013
14
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. ( 24269423 )
2013
15
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. ( 23348490 )
2012
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
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. ( 21297451 )
2011
19
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
20
Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. ( 20729721 )
2010
21
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. ( 20022356 )
2010
22
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. ( 20386432 )
2010
23
Implications for cardiac surgery in patients with factor XII deficiency. ( 20103363 )
2010
24
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 20043377 )
2009
25
Rosai-Dorfman disease with factor XII deficiency. ( 19326165 )
2009
26
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 19934572 )
2009
27
Relationship between factor XII deficiency and thrombosis: the debate is still open? ( 19353242 )
2009
28
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. ( 18392695 )
2009
29
A novel mutation in a patient with congenital coagulation factor XII deficiency. ( 18710647 )
2008
30
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
31
Aortic valve repair in a patient with factor XII deficiency. ( 18503953 )
2008
32
A complete factor XII deficiency does not affect coagulopathy, inflammatory responses, and lethality, but attenuates early hypotension in endotoxemic mice. ( 18761719 )
2008
33
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. ( 17499688 )
2007
34
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. ( 16827880 )
2006
35
High incidence of plasma factor XII deficiency in normal Korean subjects. ( 16165195 )
2006
36
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. ( 15617741 )
2005
37
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. ( 16324213 )
2005
38
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. ( 16130082 )
2005
39
Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. ( 16015420 )
2005
40
Characterization of factor XII Tenri, a rare CRM-negative factor XII deficiency. ( 15228238 )
2004
41
Thrombosis-free surgical procedures in severe (Homozygote) factor XII deficiency: report of four additional cases and literature review. ( 15497021 )
2004
42
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. ( 15013868 )
2004
43
Perioperative management of a patient with severe factor XII deficiency. ( 15678740 )
2004
44
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. ( 15609524 )
2004
45
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. ( 15205584 )
2004
46
Molecular characterization of coagulation factor XII deficiency in a Japanese family. ( 12876626 )
2003
47
Factor XII deficiency and recurrent sixth nerve palsy. ( 12598465 )
2003
48
Factor XII deficiency is strongly associated with primary recurrent abortions. ( 12969703 )
2003
49
Huge left atrial thrombus with mitral stenosis in congenital factor XII deficiency. ( 11834028 )
2002
50
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. ( 12297136 )
2002

Variations for Factor Xii Deficiency

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

71 (show all 11)
# Symbol AA change Variation ID SNP ID
1 F12 p.Arg372Pro VAR_006623 rs118204454
2 F12 p.Cys590Ser VAR_006624
3 F12 p.Tyr53Cys VAR_014426 rs118204455
4 F12 p.Arg142Pro VAR_031500
5 F12 p.Ala411Thr VAR_031503 rs865853663
6 F12 p.Leu414Met VAR_031504
7 F12 p.Arg417Gln VAR_031505 rs932430490
8 F12 p.Gln440Lys VAR_031506
9 F12 p.Asp461Asn VAR_031507
10 F12 p.Trp505Cys VAR_031508
11 F12 p.Gly589Arg VAR_031509 rs766505234

ClinVar genetic disease variations for Factor Xii Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 F12, CYS571SER undetermined variant Pathogenic
2 F12 NM_000505.3(F12): c.1115G> C (p.Arg372Pro) single nucleotide variant Pathogenic rs118204454 GRCh37 Chromosome 5, 176830995: 176830995
3 F12 NM_000505.3(F12): c.158A> G (p.Tyr53Cys) single nucleotide variant Pathogenic rs118204455 GRCh37 Chromosome 5, 176833020: 176833020

Expression for Factor Xii Deficiency

Search GEO for disease gene expression data for Factor Xii Deficiency.

Pathways for Factor Xii Deficiency

Pathways related to Factor Xii Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Factor Xii Deficiency

Cellular components related to Factor Xii Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 APOH F12 F3 F9 SERPINC1
2 extracellular region GO:0005576 9.43 APOH F12 F3 F5 F9 SERPINC1
3 endoplasmic reticulum lumen GO:0005788 9.33 F5 F9 SERPINC1
4 extracellular space GO:0005615 9.1 APOH F12 F3 F5 F9 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 protein processing GO:0016485 9.43 F12 F3
2 regulation of blood coagulation GO:0030193 9.43 APOH F12 SERPINC1
3 positive regulation of blood coagulation GO:0030194 9.4 APOH F12
4 zymogen activation GO:0031638 9.37 F12 F9
5 blood coagulation GO:0007596 9.35 F12 F3 F5 F9 SERPINC1
6 blood coagulation, intrinsic pathway GO:0007597 9.33 APOH F12 F9
7 blood coagulation, extrinsic pathway GO:0007598 9.32 F3 F9
8 hemostasis GO:0007599 9.02 F12 F3 F5 F9 SERPINC1

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

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 8.96 APOH F3
2 serine-type endopeptidase activity GO:0004252 8.8 F12 F3 F9

Sources for Factor Xii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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