MCID: FCT004
MIFTS: 51

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 57 12 53 75 37 13 55 44 15 73
Hageman Factor Deficiency 57 12 76 53 75
Factor Xii Deficiency Disease 12 29 6
Haf Deficiency 57 53 75
F12 Deficiency 57 53
Congenital Hageman Factor Deficiency 59
Coagulation Factor 12 Deficiency 53
Congenital Factor Xii Deficiency 59
Coagulation Factor Xii 13
Deficiency, Factor Xii 40
Factor 12 Deficiency 53
Deficiency, Hageman 12
Factor Xii 6
Fa12d 75

Characteristics:

Orphanet epidemiological data:

59
congenital factor xii deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
factor xii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 234000
Disease Ontology 12 DOID:2231
MeSH 44 D005175
SNOMED-CT 68 46981006
Orphanet 59 ORPHA330
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 74 C0015526
MedGen 42 C0015526
KEGG 37 H00941
SNOMED-CT via HPO 69 258211005 409675001
UMLS 73 C0015526

Summaries for Factor Xii Deficiency

NIH Rare Diseases : 53 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. 

MalaCards based summary : Factor Xii Deficiency, also known as hageman factor deficiency, is related to thrombocytosis and retinal vein occlusion. 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 lung, and related phenotypes are prolonged partial thromboplastin time and reduced factor xii activity

UniProtKB/Swiss-Prot : 75 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 : 76 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 145)
# Related Disease Score Top Affiliating Genes
1 thrombocytosis 29.5 F3 SERPINC1
2 retinal vein occlusion 29.2 APOH F5 SERPINC1
3 thrombophlebitis 29.0 APOH F5 SERPINC1
4 central retinal vein occlusion 29.0 APOH F5 SERPINC1
5 hemophilia 28.7 F3 F9 VWF
6 myocardial infarction 28.6 F3 F5 SERPINC1 VWF
7 factor xi deficiency 28.1 F12 F3 F9 SERPINC1
8 von willebrand's disease 27.9 F3 F5 F9 VWF
9 thrombophilia due to thrombin defect 27.8 APOH F3 F5 SERPINC1 VWF
10 hemophilia a 27.7 F3 F5 F9 VWF
11 thrombosis 26.7 APOH F3 F5 F9 SERPINC1 VWF
12 thrombophilia 26.0 APOH F3 F5 F9 SERPINC1 VWF
13 intestinal impaction 10.4 F3 SERPINC1
14 fournier gangrene 10.4 F3 SERPINC1
15 heparin-induced thrombocytopenia 10.4 F3 SERPINC1
16 leech infestation 10.3 F3 SERPINC1
17 qualitative platelet defect 10.3 F3 VWF
18 giant hemangioma 10.3 F3 SERPINC1
19 von willebrand disease, type 1 10.3 F3 VWF
20 blue toe syndrome 10.3 F3 SERPINC1
21 marantic endocarditis 10.3 F3 SERPINC1
22 purpura fulminans 10.3 F3 SERPINC1
23 hemorrhagic fever 10.2 F3 SERPINC1
24 raynaud phenomenon 10.2 APOH VWF
25 intermediate coronary syndrome 10.2 F3 SERPINC1
26 pulmonary immaturity 10.2 F3 SERPINC1
27 hereditary angioedema 10.2
28 angioedema 10.2
29 hepatic vascular disease 10.2 F3 SERPINC1
30 may-thurner syndrome 10.2 APOH F5
31 acanthamoeba keratitis 10.2 APOH F5
32 platelet aggregation, spontaneous 10.2 SERPINC1 VWF
33 livedoid vasculopathy 10.2 APOH F5
34 pregnancy loss, recurrent 1 10.2 APOH F5
35 hepatic veno-occlusive disease 10.2 F3 SERPINC1
36 factor xiii deficiency 10.2 F3 F5
37 sudden sensorineural hearing loss 10.1 F5 SERPINC1
38 afibrinogenemia, congenital 10.1 F3 VWF
39 sticky platelet syndrome 10.1 F5 SERPINC1
40 carotid artery occlusion 10.1 APOH F5
41 hepatitis a 10.1 F3 SERPINC1
42 severe hemophilia a 10.1 F3 F5
43 factor viii deficiency 10.1 F5 VWF
44 meningococcemia 10.0 F5 SERPINC1
45 thrombasthenia 10.0 F3 F5
46 post-thrombotic syndrome 10.0 F5 SERPINC1
47 intracranial embolism 10.0 F12 F3 SERPINC1
48 legg-calve-perthes disease 10.0 F5 SERPINC1
49 retinitis 10.0
50 collagen disease 10.0 APOH VWF

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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 prolonged partial thromboplastin time 32 HP:0003645
2 reduced factor xii activity 32 HP:0004841
3 prolonged whole-blood clotting time 32 HP:0005542

MGI Mouse Phenotypes related to Factor Xii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 F5 F9 SERPINC1 VWF F3
2 homeostasis/metabolism MP:0005376 9.17 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 Not Applicable
3 Hemostatics Not Applicable
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 Unknown status NCT02785718 Not Applicable
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 29 F12

Anatomical Context for Factor Xii Deficiency

MalaCards organs/tissues related to Factor Xii Deficiency:

41
Testes, Whole Blood, Lung, Liver, Heart

Publications for Factor Xii Deficiency

Articles related to Factor Xii Deficiency:

(show top 50) (show all 124)
# 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
Acquired factor XII deficiency following transanal excision of rectal lesion by transanal minimally invasive surgery (TAMIS): a case report and literature review. ( 29921296 )
2018
3
A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. ( 28392508 )
2017
4
Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. ( 28007010 )
2016
5
Novel mutations in congenital factor XII deficiency. ( 26709783 )
2016
6
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 )
2016
7
[Are we to pay attention to factor XII deficiency?]. ( 26800476 )
2015
8
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. ( 26882823 )
2015
9
[Are we to pay attention to factor XII deficiency?]. ( 27124975 )
2015
10
Prevalent factor XII deficiency in cancer patients with isolated aPTT prolongation. ( 26157783 )
2015
11
[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency]. ( 26037346 )
2015
12
[Acute lung injury as a consequence of fresh frozen plasma administration in a patient with factor XII deficiency]. ( 24252352 )
2014
13
Factor XII Deficiency and Cardiopulmonary Bypass. ( 26357792 )
2014
14
Essential thrombocytosis accompanied by coagulation factor XII deficiency: a case report. ( 25419425 )
2014
15
Cardiopulmonary Bypass in a Patient with Factor XII Deficiency. ( 26357791 )
2014
16
Molecular Characterization of Cat Factor XII Gene and Identification of a Mutation Causing Factor XII Deficiency in a Domestic Shorthair Cat Colony. ( 24793828 )
2014
17
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. ( 24269423 )
2013
18
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. ( 23492916 )
2013
19
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. ( 23348490 )
2012
20
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
21
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
22
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. ( 21297451 )
2011
23
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. ( 22043782 )
2011
24
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. ( 20386432 )
2010
25
Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. ( 20729721 )
2010
26
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. ( 20022356 )
2010
27
Implications for cardiac surgery in patients with factor XII deficiency. ( 20103363 )
2010
28
Relationship between factor XII deficiency and thrombosis: the debate is still open? ( 19353242 )
2009
29
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. ( 18392695 )
2009
30
Rosai-Dorfman disease with factor XII deficiency. ( 19326165 )
2009
31
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 20043377 )
2009
32
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 19934572 )
2009
33
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
34
Aortic valve repair in a patient with factor XII deficiency. ( 18503953 )
2008
35
A novel mutation in a patient with congenital coagulation factor XII deficiency. ( 18710647 )
2008
36
A complete factor XII deficiency does not affect coagulopathy, inflammatory responses, and lethality, but attenuates early hypotension in endotoxemic mice. ( 18761719 )
2008
37
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. ( 17499688 )
2007
38
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. ( 16827880 )
2006
39
High incidence of plasma factor XII deficiency in normal Korean subjects. ( 16165195 )
2006
40
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. ( 16130082 )
2005
41
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. ( 16324213 )
2005
42
Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. ( 16015420 )
2005
43
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. ( 15617741 )
2005
44
Perioperative management of a patient with severe factor XII deficiency. ( 15678740 )
2004
45
Thrombosis-free surgical procedures in severe (Homozygote) factor XII deficiency: report of four additional cases and literature review. ( 15497021 )
2004
46
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. ( 15205584 )
2004
47
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. ( 15013868 )
2004
48
Characterization of factor XII Tenri, a rare CRM-negative factor XII deficiency. ( 15228238 )
2004
49
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. ( 15609524 )
2004
50
Molecular characterization of coagulation factor XII deficiency in a Japanese family. ( 12876626 )
2003

Variations for Factor Xii Deficiency

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

75 (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
(show top 50) (show all 73)
# 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.1115G> C (p.Arg372Pro) single nucleotide variant Pathogenic rs118204454 GRCh38 Chromosome 5, 177403994: 177403994
4 F12 NM_000505.3(F12): c.158A> G (p.Tyr53Cys) single nucleotide variant Pathogenic rs118204455 GRCh37 Chromosome 5, 176833020: 176833020
5 F12 NM_000505.3(F12): c.158A> G (p.Tyr53Cys) single nucleotide variant Pathogenic rs118204455 GRCh38 Chromosome 5, 177406019: 177406019
6 F12 NM_000505.3(F12): c.1027G> C (p.Ala343Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs183643295 GRCh37 Chromosome 5, 176831083: 176831083
7 F12 NM_000505.3(F12): c.1027G> C (p.Ala343Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs183643295 GRCh38 Chromosome 5, 177404082: 177404082
8 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh37 Chromosome 5, 176830627: 176830627
9 F12; SLC34A1 NM_000505.3(F12): c.1251-9C> T single nucleotide variant Benign rs17876032 GRCh38 Chromosome 5, 177403626: 177403626
10 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh37 Chromosome 5, 176831826: 176831826
11 F12 NM_000505.3(F12): c.619G> C (p.Ala207Pro) single nucleotide variant Benign rs17876030 GRCh38 Chromosome 5, 177404825: 177404825
12 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh38 Chromosome 5, 177397849: 177397849
13 F12; SLC34A1 NM_003052.4(SLC34A1): c.1483C> T (p.Arg495Cys) single nucleotide variant Likely benign rs199565633 GRCh37 Chromosome 5, 176824850: 176824850
14 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh38 Chromosome 5, 177398085: 177398085
15 F12; SLC34A1 NM_003052.4(SLC34A1): c.1719A> G (p.Leu573=) single nucleotide variant Likely benign rs148575220 GRCh37 Chromosome 5, 176825086: 176825086
16 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh37 Chromosome 5, 176831185: 176831185
17 F12 NM_000505.3(F12): c.1018+12G> C single nucleotide variant Likely benign rs758462343 GRCh38 Chromosome 5, 177404184: 177404184
18 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh37 Chromosome 5, 176831815: 176831815
19 F12 NM_000505.3(F12): c.630C> T (p.Asp210=) single nucleotide variant Uncertain significance rs886060471 GRCh38 Chromosome 5, 177404814: 177404814
20 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh37 Chromosome 5, 176832198: 176832198
21 F12 NM_000505.3(F12): c.398-12C> T single nucleotide variant Likely benign rs56285942 GRCh38 Chromosome 5, 177405197: 177405197
22 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh37 Chromosome 5, 176836553: 176836553
23 F12 NM_000505.3(F12): c.-25G> A single nucleotide variant Uncertain significance rs886060472 GRCh38 Chromosome 5, 177409552: 177409552
24 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh38 Chromosome 5, 177398001: 177398001
25 F12; SLC34A1 NM_003052.4(SLC34A1): c.1635C> T (p.Gly545=) single nucleotide variant Benign rs7379524 GRCh37 Chromosome 5, 176825002: 176825002
26 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh38 Chromosome 5, 177398488: 177398488
27 F12; SLC34A1 NM_003052.4(SLC34A1): c.*202A> C single nucleotide variant Benign rs6556319 GRCh37 Chromosome 5, 176825489: 176825489
28 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh38 Chromosome 5, 177403569: 177403569
29 F12; SLC34A1 NM_000505.3(F12): c.1299C> T (p.Asn433=) single nucleotide variant Likely benign rs17876033 GRCh37 Chromosome 5, 176830570: 176830570
30 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh38 Chromosome 5, 177403624: 177403624
31 F12; SLC34A1 NM_000505.3(F12): c.1251-7C> T single nucleotide variant Likely benign rs375340260 GRCh37 Chromosome 5, 176830625: 176830625
32 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh37 Chromosome 5, 176831085: 176831085
33 F12 NM_000505.3(F12): c.1025C> T (p.Pro342Leu) single nucleotide variant Likely benign rs2230939 GRCh38 Chromosome 5, 177404084: 177404084
34 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh37 Chromosome 5, 176831184: 176831184
35 F12 NM_000505.3(F12): c.1018+13G> C single nucleotide variant Likely benign rs552424629 GRCh38 Chromosome 5, 177404183: 177404183
36 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh37 Chromosome 5, 176831544: 176831544
37 F12 NM_000505.3(F12): c.756C> T (p.Ala252=) single nucleotide variant Benign rs41309752 GRCh38 Chromosome 5, 177404543: 177404543
38 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh38 Chromosome 5, 177398068: 177398068
39 F12; SLC34A1 NM_003052.4(SLC34A1): c.1702C> T (p.His568Tyr) single nucleotide variant Likely benign rs34225933 GRCh37 Chromosome 5, 176825069: 176825069
40 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh38 Chromosome 5, 177398465: 177398465
41 F12; SLC34A1 NM_003052.4(SLC34A1): c.*179G> A single nucleotide variant Likely benign rs141664220 GRCh37 Chromosome 5, 176825466: 176825466
42 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh38 Chromosome 5, 177398771: 177398771
43 F12; SLC34A1 NM_003052.4(SLC34A1): c.*485G> A single nucleotide variant Likely benign rs143160780 GRCh37 Chromosome 5, 176825772: 176825772
44 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh38 Chromosome 5, 177403526: 177403526
45 F12; SLC34A1 NM_000505.3(F12): c.1342C> T (p.Arg448Cys) single nucleotide variant Likely benign rs115119084 GRCh37 Chromosome 5, 176830527: 176830527
46 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh38 Chromosome 5, 177403596: 177403596
47 F12; SLC34A1 NM_000505.3(F12): c.1272G> C (p.Thr424=) single nucleotide variant Likely benign rs61737766 GRCh37 Chromosome 5, 176830597: 176830597
48 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh37 Chromosome 5, 176830630: 176830630
49 F12 NM_000505.3(F12): c.1251-12C> A single nucleotide variant Uncertain significance rs747726864 GRCh38 Chromosome 5, 177403629: 177403629
50 F12 NM_000505.3(F12): c.1107G> C (p.Ser369=) single nucleotide variant Likely benign rs141473119 GRCh37 Chromosome 5, 176831003: 176831003

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:

37
# 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 9.73 APOH F12 F3 F9 SERPINC1 VWF
2 endoplasmic reticulum lumen GO:0005788 9.54 F5 F9 SERPINC1
3 extracellular matrix GO:0031012 9.5 APOH F3 VWF
4 extracellular space GO:0005615 9.43 APOH F12 F3 F5 F9 SERPINC1
5 platelet alpha granule lumen GO:0031093 9.4 F5 VWF
6 extracellular region GO:0005576 9.17 APOH F12 F3 F5 F9 SERPINC1
7 platelet alpha granule GO:0031091 9.16 F5 VWF

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.54 APOH F5 VWF
2 protein processing GO:0016485 9.46 F12 F3
3 blood coagulation, intrinsic pathway GO:0007597 9.46 APOH F12 F9 VWF
4 positive regulation of blood coagulation GO:0030194 9.43 APOH F12
5 regulation of blood coagulation GO:0030193 9.43 APOH F12 SERPINC1
6 blood coagulation GO:0007596 9.43 F12 F3 F5 F9 SERPINC1 VWF
7 zymogen activation GO:0031638 9.4 F12 F9
8 blood coagulation, extrinsic pathway GO:0007598 9.32 F3 F9
9 hemostasis GO:0007599 9.1 F12 F3 F5 F9 SERPINC1 VWF

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.13 F12 F3 F9
2 protease binding GO:0002020 8.8 F3 SERPINC1 VWF

Sources for Factor Xii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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