FA12D
MCID: FCT004
MIFTS: 54

Factor Xii Deficiency (FA12D)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor Xii Deficiency

MalaCards integrated aliases for Factor Xii Deficiency:

Name: Factor Xii Deficiency 57 12 20 72 36 13 54 44 15 70
Hageman Factor Deficiency 57 12 73 20 72
Factor Xii Deficiency Disease 12 29 6
Haf Deficiency 57 20 72
F12 Deficiency 57 20
Congenital Hageman Factor Deficiency 58
Coagulation Factor 12 Deficiency 20
Congenital Factor Xii Deficiency 58
Deficiency, Factor Xii 39
Factor 12 Deficiency 20
Deficiency, Hageman 12
Factor Xii 6
Fa12d 72

Characteristics:

Orphanet epidemiological data:

58
congenital factor xii deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
factor xii deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2231
OMIM® 57 234000
KEGG 36 H00941
MeSH 44 D005175
NCIt 50 C131740
SNOMED-CT 67 46981006
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0015526
Orphanet 58 ORPHA330
MedGen 41 C0015526
SNOMED-CT via HPO 68 258211005 409675001
UMLS 70 C0015526

Summaries for Factor Xii Deficiency

GARD : 20 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 hemophilia and pregnancy loss, recurrent 1. 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 Hemostatics and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and heart, and related phenotypes are prolonged partial thromboplastin time and reduced factor xii activity

Disease Ontology : 12 A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has material basis in a mutation in the F12 gene on chromosome 5q33.

KEGG : 36 Factor XII (FXII) deficiency is a rare autosomal recessive disorder. Although FXII deficiency is not associated with a clinical bleeding tendency, FXII is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Venous or arterial thrombosis, recurrent miscarriages, and placental abruption were reported in cases with FXII deficiency.

UniProtKB/Swiss-Prot : 72 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 : 73 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

More information 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 296)
# Related Disease Score Top Affiliating Genes
1 hemophilia 30.6 F9 F7
2 pregnancy loss, recurrent 1 30.5 F5 APOH
3 angioedema, hereditary, type iii 30.5 SLC34A1 F12
4 hereditary angioedema 30.3 SLC34A1 KNG1 KLKB1 F12
5 angioedema 30.3 SLC34A1 KNG1 KLKB1 F12
6 antithrombin iii deficiency 30.3 SERPINC1 F5 APOH
7 placental abruption 30.2 SERPINC1 F5 APOH
8 thrombasthenia 30.1 F5 F3
9 protein c deficiency 30.1 SERPINC1 F9 F5 APOH
10 retinal vein occlusion 30.1 SERPINC1 F5 F3 APOH
11 protein s deficiency 30.1 SERPINC1 F5 F3 APOH
12 hemopericardium 30.0 F9 F3
13 mitral valve stenosis 30.0 VWF SERPINC1 F3
14 thrombocytosis 29.9 VWF SERPINC1 F3
15 carotid artery occlusion 29.9 F5 F11 APOH
16 placenta disease 29.9 SERPINC1 F5 F3 APOH
17 von willebrand's disease 29.8 VWF F9 F7 F3 F11
18 cerebrovascular disease 29.8 VWF F7 F5 F12 APOH
19 thrombophilia due to thrombin defect 29.7 VWF SERPINC1 F5 F3 APOH
20 acute myocardial infarction 29.7 VWF SERPINC1 F7 F3
21 essential thrombocythemia 29.7 VWF SERPINC1 F3
22 acquired hemophilia 29.7 F9 F5 F3 F11
23 carotid artery thrombosis 29.7 VWF SERPINC1 F3 F11
24 purpura 29.6 VWF SERPINC1 F3 APOH
25 bernard-soulier syndrome 29.5 VWF F9 F7 F3
26 hemophilia a 29.5 VWF F9 F7 F5 F3
27 central retinal vein occlusion 29.5 VWF SERPINC1 F5 F3 APOH
28 thrombophilia due to activated protein c resistance 29.5 VWF SERPINC1 F5 F3 APOH
29 antiphospholipid syndrome 29.5 VWF SERPINC1 F5 F3 APOH
30 thrombophlebitis 29.5 VWF SERPINC1 F7 F5 F3 APOH
31 budd-chiari syndrome 29.4 SERPINC1 F7 F5 F3 APOH
32 angina pectoris 29.3 KNG1 F3
33 factor x deficiency 29.3 F9 F7 F5 F3 F11
34 pulmonary embolism 29.2 VWF SERPINC1 F9 F5 F3 APOH
35 liver cirrhosis 29.1 SERPINC1 KNG1 KLKB1 F3
36 disseminated intravascular coagulation 29.0 VWF SERPINC1 F9 F7 F5 F3
37 c1 inhibitor deficiency 29.0 SLC34A1 KNG1 KLKB1 KLK4 F12
38 intracranial thrombosis 29.0 VWF SERPINC1 F5 F3 F11 APOH
39 thrombophilia 29.0 VWF SERPINC1 F9 F7 F5 F3
40 hemophilia b 29.0 VWF SERPINC1 F9 F7 F3 F11
41 peripheral vascular disease 28.9 VWF SERPINC1 KNG1 F5 F3
42 factor viii deficiency 28.9 VWF SERPINC1 F9 F7 F5 F3
43 pre-eclampsia 28.9 VWF SERPINC1 KNG1 F5 F3 APOH
44 thrombosis 28.9 VWF SERPINC1 F9 F7 F5 F3
45 stroke, ischemic 28.8 VWF SERPINC1 F9 F7 F5 F3
46 thrombocytopenia 28.4 VWF SERPINC1 F9 F7 F5 F3
47 high molecular weight kininogen deficiency 28.3 KNG1 KLKB1 KLK4 F3 F12 F11
48 hemorrhagic disease 28.1 VWF SERPINC1 KNG1 F9 F7 F5
49 myocardial infarction 28.0 VWF SERPINC1 KNG1 F9 F7 F5
50 factor xi deficiency 27.8 VWF SERPINC1 KNG1 F9 F7 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

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Misc:
no symptoms

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

Clinical features from OMIM®:

234000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Factor Xii Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 APOH F11 F12 F3 F5 F7
2 cardiovascular system MP:0005385 9.76 F11 F3 F5 F7 F9 KLKB1
3 mortality/aging MP:0010768 9.32 APOH F11 F3 F5 F7 F9

Drugs & Therapeutics for Factor Xii Deficiency

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 4
2 Coagulants Phase 4
3 Cellulose, Oxidized Phase 4
4 Kallikreins Phase 2
5
Thrombin Approved, Investigational
6
Protein C Approved
7
Sodium citrate Approved, Investigational 68-04-2
8
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
9
Lysine Approved, Nutraceutical 56-87-1 5962
10
Fibrinolysin Investigational 9004-09-5
11 Antifibrinolytic Agents
12 Antithrombin III
13 Factor VIII
14 Plasminogen
15 Thromboplastin
16 Antithrombins
17 Citrate
18 Natriuretic Peptide, Brain
19 Omega 3 Fatty Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Randomized, Controlled, Prospective Trial to Evaluate the Hemostatic Effect of Lyostypt® Versus Surgicel® in Arterial Bypass Anastomosis Completed NCT00837954 Phase 4
2 Factor XII-associated Cold Autoinflammatory Syndrome (FACAS) Linked to Kallikrein-kinin Pathology: Proof of Concept Treatment With Lanadelumab (DX-2930) Recruiting NCT04278885 Phase 2 Lanadelumab
3 The Influence of the Proteins of the Contact Activation System on Thrombus Formation in Human Blood Unknown status NCT02785718
4 Major Burns Coagulation and the Role of Factor XIII: A Descriptive Study Unknown status NCT03188913
5 Comparison of Factor XII Levels in Gestational Diabetic and Healthy Pregnancies Completed NCT03583216
6 An Investigation of Activated Factor XII (Fxlla) as a Prognostic Marker. Completed NCT00521976
7 Evaluation of New Markers (FXII and Videocapillaroscopy) in Type 3 Angioedema Completed NCT03917680

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:

40
Whole Blood, Brain, Heart, Liver, Lung, Myeloid

Publications for Factor Xii Deficiency

Articles related to Factor Xii Deficiency:

(show top 50) (show all 314)
# Title Authors PMID Year
1
The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients. 6 57
8528215 1995
2
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. 57 61
15013868 2004
3
Factor XII deficiency: a possible cause of livedo with ulceration? 61 57
11069485 2000
4
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. 61 6
10361128 1999
5
John Hageman's factor and deep-vein thrombosis: Leiden thrombophilia Study. 61 57
7947293 1994
6
Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families. 61 57
1905067 1991
7
Superficial migratory thrombophlebitis and factor XII deficiency. 61 57
2110579 1990
8
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. 57 61
2882793 1987
9
Hageman trait (factor XII deficiency): a probably second genotype inherited as an autosomal dominant characteristic. 61 57
4626869 1972
10
Hageman factor deficiency. Report of a case found in a Japanese girl. 57 61
4968868 1968
11
Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. 6
21264442 2011
12
Defective thrombus formation in mice lacking coagulation factor XII. 57
16009717 2005
13
Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation. 57
15678272 2005
14
The occasional venous thromboses seen in patients with severe (homozygous) FXII deficiency are probably due to associated risk factors: a study of prevalence in 21 patients and review of the literature. 57
15306750 2004
15
Oscar Ratnoff: his contributions to the golden era of coagulation research. 57
12846885 2003
16
A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. 57
11805911 2002
17
Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg 353-->Pro leading to loss of a kallikrein cleavage site. 6
8049433 1994
18
Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? 57
8419231 1993
19
Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution. 6
2510163 1989
20
Structural gene encoding human factor XII is located at 5q33-qter. 57
3162339 1988
21
Thrombosis or myocardial infarction in congenital clotting factor abnormalities and chronic thrombocytopenias: a report of 21 patients and a review of 50 previously reported cases. 57
6348471 1983
22
Reduced titers of Hageman factor (factor XII) in Orientals. 57
7305148 1981
23
A quarter century with Mr. Hageman. 57
7006141 1980
24
Factor-XII congenital deficiency. A new family study. 57
505391 1979
25
Fatal vascular disease in a patient with Hageman trait and a connective-tissue disorder. 57
917064 1977
26
Factor XII defect and hemorrhage. Evidence for a new type of hereditary hemostatic disorder. 57
5432188 1970
27
[Probable localisation of a Hageman (factor XII) locus on an autosome]. 57
5303429 1968
28
WATERFALL SEQUENCE FOR INTRINSIC BLOOD CLOTTING. 57
14173416 1964
29
AN ENZYME CASCADE IN THE BLOOD CLOTTING MECHANISM, AND ITS FUNCTION AS A BIOCHEMICAL AMPLIFIER. 57
14167839 1964
30
Further studies on the inheritance of Hageman trait. 57
14490552 1962
31
Laboratory and genetic observations in another family with the Hageman trait. 57
13838083 1960
32
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. 54 61
20386432 2010
33
Implications for cardiac surgery in patients with factor XII deficiency. 54 61
20103363 2010
34
Rosai-Dorfman disease with factor XII deficiency. 54 61
19326165 2009
35
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. 54 61
18392695 2009
36
Pathogenetic potential of antiphospholipid antibodies. 54 61
19804088 2006
37
Cardiopulmonary bypass in patients with pre-existing coagulopathy. 54 61
15804152 2005
38
Periodic painful purpura: fact or factitious? 61 54
14961912 2004
39
Molecular characterization of coagulation factor XII deficiency in a Japanese family. 54 61
12876626 2003
40
Hemostyptic effect of oxidized cellulose on blood platelets. 61 54
14577133 2003
41
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. 61 54
12297136 2002
42
Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. luscaber@tin.it. 61 54
10728027 2000
43
Transcatheter closure of atrial septal defect and patent foramen ovale with ASDOS device (a multi-institutional European trial). 61 54
9856928 1998
44
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. 61 54
9473199 1998
45
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. 54 61
8865545 1996
46
Activation of factor VII during alimentary lipemia occurs in healthy adults and patients with congenital factor XII or factor XI deficiency, but not in patients with factor IX deficiency. 54 61
8639777 1996
47
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. 61 54
1550105 1992
48
Factor XII deficiency and pregnancy. 61 54
1870803 1991
49
Abnormal proteolytic degradation of von Willebrand factor after desmopressin infusion in a new subtype of von Willebrand disease (ID). 61 54
1996556 1991
50
Cardiopulmonary bypass in a child with severe Factor XII deficiency. 61
33663270 2021

Variations for Factor Xii Deficiency

ClinVar genetic disease variations for Factor Xii Deficiency:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F12 , SLC34A1 NM_000505.3(F12):c.1115G>C (p.Arg372Pro) SNV Pathogenic 1165 rs118204454 GRCh37: 5:176830995-176830995
GRCh38: 5:177403994-177403994
2 F12 , SLC34A1 NM_000505.3(F12):c.1768T>A (p.Cys590Ser) SNV Pathogenic 1164 rs1157280571 GRCh37: 5:176829373-176829373
GRCh38: 5:177402372-177402372
3 F12 , SLC34A1 NM_000505.3(F12):c.158A>G (p.Tyr53Cys) SNV Pathogenic 1168 rs118204455 GRCh37: 5:176833020-176833020
GRCh38: 5:177406019-177406019
4 F12 , SLC34A1 NM_000505.3(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic 1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
5 F12 , SLC34A1 NM_000505.4(F12):c.983C>A (p.Thr328Lys) SNV Pathogenic 1169 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
6 F12 , SLC34A1 NM_000505.3(F12):c.1681-1G>A SNV Pathogenic 1166 rs199988476 GRCh37: 5:176829461-176829461
GRCh38: 5:177402460-177402460
7 F12 , SLC34A1 NM_000505.3(F12):c.1027G>C (p.Ala343Pro) SNV Conflicting interpretations of pathogenicity 225352 rs183643295 GRCh37: 5:176831083-176831083
GRCh38: 5:177404082-177404082
8 F12 , SLC34A1 NM_000505.3(F12):c.348C>A (p.Gly116=) SNV Uncertain significance 353003 rs140243617 GRCh37: 5:176832373-176832373
GRCh38: 5:177405372-177405372
9 F12 , SLC34A1 NM_000505.3(F12):c.630C>T (p.Asp210=) SNV Uncertain significance 353000 rs886060471 GRCh37: 5:176831815-176831815
GRCh38: 5:177404814-177404814
10 F12 , SLC34A1 NM_000505.3(F12):c.1212C>G (p.Pro404=) SNV Uncertain significance 352991 rs756802257 GRCh37: 5:176830898-176830898
GRCh38: 5:177403897-177403897
11 F12 , SLC34A1 NM_000505.3(F12):c.1018+12G>C SNV Uncertain significance 352995 rs758462343 GRCh37: 5:176831185-176831185
GRCh38: 5:177404184-177404184
12 F12 , SLC34A1 NM_000505.3(F12):c.1107G>C (p.Ser369=) SNV Uncertain significance 352992 rs141473119 GRCh37: 5:176831003-176831003
GRCh38: 5:177404002-177404002
13 F12 , SLC34A1 NM_000505.3(F12):c.-3G>A SNV Uncertain significance 353004 rs201346142 GRCh37: 5:176836531-176836531
GRCh38: 5:177409530-177409530
14 F12 , SLC34A1 NM_000505.3(F12):c.158A>G (p.Tyr53Cys) SNV Uncertain significance 1168 rs118204455 GRCh37: 5:176833020-176833020
GRCh38: 5:177406019-177406019
15 F12 , SLC34A1 NM_000505.4(F12):c.1704G>A (p.Val568=) SNV Uncertain significance 904430 GRCh37: 5:176829437-176829437
GRCh38: 5:177402436-177402436
16 F12 , SLC34A1 NM_000505.4(F12):c.1387+4C>G SNV Uncertain significance 904431 GRCh37: 5:176830478-176830478
GRCh38: 5:177403477-177403477
17 F12 , SLC34A1 NM_000505.4(F12):c.1018+11G>T SNV Uncertain significance 904493 GRCh37: 5:176831186-176831186
GRCh38: 5:177404185-177404185
18 F12 , SLC34A1 NM_000505.4(F12):c.957G>C (p.Gln319His) SNV Uncertain significance 904494 GRCh37: 5:176831258-176831258
GRCh38: 5:177404257-177404257
19 F12 , SLC34A1 NM_000505.4(F12):c.120C>T (p.Leu40=) SNV Uncertain significance 904551 GRCh37: 5:176833058-176833058
GRCh38: 5:177406057-177406057
20 F12 , SLC34A1 NM_000505.4(F12):c.30G>A (p.Leu10=) SNV Uncertain significance 904552 GRCh37: 5:176836499-176836499
GRCh38: 5:177409498-177409498
21 F12 , SLC34A1 NM_000505.4(F12):c.1251-9C>A SNV Uncertain significance 905230 GRCh37: 5:176830627-176830627
GRCh38: 5:177403626-177403626
22 F12 , SLC34A1 NM_000505.4(F12):c.1142G>A (p.Arg381His) SNV Uncertain significance 906814 GRCh37: 5:176830968-176830968
GRCh38: 5:177403967-177403967
23 F12 , SLC34A1 NM_000505.4(F12):c.*86C>T SNV Uncertain significance 907757 GRCh37: 5:176829207-176829207
GRCh38: 5:177402206-177402206
24 F12 , SLC34A1 NM_000505.4(F12):c.*9G>A SNV Uncertain significance 904429 GRCh37: 5:176829284-176829284
GRCh38: 5:177402283-177402283
25 F12 , SLC34A1 NM_000505.4(F12):c.1018+14G>T SNV Uncertain significance 907810 GRCh37: 5:176831183-176831183
GRCh38: 5:177404182-177404182
26 F12 , SLC34A1 NM_000505.4(F12):c.293G>A (p.Cys98Tyr) SNV Uncertain significance 907866 GRCh37: 5:176832428-176832428
GRCh38: 5:177405427-177405427
27 F12 , SLC34A1 NM_000505.4(F12):c.286+6A>G SNV Uncertain significance 907867 GRCh37: 5:176832730-176832730
GRCh38: 5:177405729-177405729
28 F12 , SLC34A1 NM_000505.4(F12):c.129C>T (p.Thr43=) SNV Uncertain significance 904550 GRCh37: 5:176833049-176833049
GRCh38: 5:177406048-177406048
29 F12 , SLC34A1 NM_000505.3(F12):c.1025C>T (p.Pro342Leu) SNV Uncertain significance 352993 rs2230939 GRCh37: 5:176831085-176831085
GRCh38: 5:177404084-177404084
30 F12 , SLC34A1 NM_000505.3(F12):c.1018+13G>C SNV Uncertain significance 352994 rs552424629 GRCh37: 5:176831184-176831184
GRCh38: 5:177404183-177404183
31 F12 , SLC34A1 NM_000505.3(F12):c.-25G>A SNV Uncertain significance 353006 rs886060472 GRCh37: 5:176836553-176836553
GRCh38: 5:177409552-177409552
32 F12 , SLC34A1 NM_000505.3(F12):c.928A>T (p.Arg310Trp) SNV Uncertain significance 352997 rs749549919 GRCh37: 5:176831287-176831287
GRCh38: 5:177404286-177404286
33 F12 , SLC34A1 NM_000505.3(F12):c.1251-12C>A SNV Uncertain significance 352990 rs747726864 GRCh37: 5:176830630-176830630
GRCh38: 5:177403629-177403629
34 F12 , SLC34A1 NM_000505.3(F12):c.1272G>C (p.Thr424=) SNV Likely benign 352988 rs61737766 GRCh37: 5:176830597-176830597
GRCh38: 5:177403596-177403596
35 F12 , SLC34A1 NM_000505.3(F12):c.1342C>T (p.Arg448Cys) SNV Likely benign 352986 rs115119084 GRCh37: 5:176830527-176830527
GRCh38: 5:177403526-177403526
36 F12 , SLC34A1 NM_000505.3(F12):c.418C>G (p.Leu140Val) SNV Likely benign 353001 rs35515200 GRCh37: 5:176832166-176832166
GRCh38: 5:177405165-177405165
37 F12 , SLC34A1 NM_000505.3(F12):c.-62C>T SNV Likely benign 369463 rs187018744 GRCh37: 5:176836590-176836590
GRCh38: 5:177409589-177409589
38 F12 , SLC34A1 NM_000505.3(F12):c.-57G>C SNV Likely benign 369462 rs41309132 GRCh37: 5:176836585-176836585
GRCh38: 5:177409584-177409584
39 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) SNV Likely benign 352973 rs199565633 GRCh37: 5:176824850-176824850
GRCh38: 5:177397849-177397849
40 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) SNV Likely benign 352976 rs148575220 GRCh37: 5:176825086-176825086
GRCh38: 5:177398085-177398085
41 F12 , SLC34A1 NM_000505.3(F12):c.398-12C>T SNV Likely benign 353002 rs56285942 GRCh37: 5:176832198-176832198
GRCh38: 5:177405197-177405197
42 F12 , SLC34A1 NM_000505.3(F12):c.1251-7C>T SNV Likely benign 352989 rs375340260 GRCh37: 5:176830625-176830625
GRCh38: 5:177403624-177403624
43 F12 , SLC34A1 NM_000505.3(F12):c.1299C>T (p.Asn433=) SNV Likely benign 352987 rs17876033 GRCh37: 5:176830570-176830570
GRCh38: 5:177403569-177403569
44 F12 , SLC34A1 NM_000505.3(F12):c.-8C>T SNV Likely benign 353005 rs369991760 GRCh37: 5:176836536-176836536
GRCh38: 5:177409535-177409535
45 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*361T>C SNV Likely benign 352983 rs539754545 GRCh37: 5:176825648-176825648
GRCh38: 5:177398647-177398647
46 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) SNV Likely benign 352975 rs34225933 GRCh37: 5:176825069-176825069
GRCh38: 5:177398068-177398068
47 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*485G>A SNV Likely benign 352985 rs143160780 GRCh37: 5:176825772-176825772
GRCh38: 5:177398771-177398771
48 F12 , SLC34A1 NM_003052.5(SLC34A1):c.*179G>A SNV Likely benign 352979 rs141664220 GRCh37: 5:176825466-176825466
GRCh38: 5:177398465-177398465
49 F12 , SLC34A1 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) SNV Benign 352974 rs7379524 GRCh37: 5:176825002-176825002
GRCh38: 5:177398001-177398001
50 F12 , SLC34A1 NM_000505.4(F12):c.-4T>C SNV Benign 1167 rs1801020 GRCh37: 5:176836532-176836532
GRCh38: 5:177409531-177409531

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

72 (show all 11)
# Symbol AA change Variation ID SNP ID
1 F12 p.Arg372Pro VAR_006623 rs118204454
2 F12 p.Cys590Ser VAR_006624 rs115728057
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

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 plasma membrane GO:0005886 10.13 SLC34A1 SERPINC1 KNG1 KLKB1 F9 F7
2 extracellular exosome GO:0070062 9.97 VWF SERPINC1 KNG1 KLKB1 F9 F12
3 extracellular space GO:0005615 9.9 VWF SERPINC1 KNG1 KLKB1 F9 F7
4 extracellular region GO:0005576 9.73 VWF SERPINC1 KNG1 KLKB1 KLK4 F9
5 endoplasmic reticulum lumen GO:0005788 9.65 SERPINC1 KNG1 F9 F7 F5
6 platelet alpha granule lumen GO:0031093 9.58 VWF KNG1 F5
7 platelet alpha granule GO:0031091 9.46 VWF F5
8 serine-type peptidase complex GO:1905286 9.32 F7 F3
9 collagen-containing extracellular matrix GO:0062023 9.23 VWF SERPINC1 KNG1 F9 F7 F3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.93 KLKB1 KLK4 F9 F7 F12 F11
2 cellular protein metabolic process GO:0044267 9.84 SLC34A1 SERPINC1 KNG1 F5
3 platelet degranulation GO:0002576 9.78 VWF KNG1 F5 APOH
4 ER to Golgi vesicle-mediated transport GO:0006888 9.77 F9 F7 F5
5 protein processing GO:0016485 9.72 F7 F3 F12
6 blood coagulation, intrinsic pathway GO:0007597 9.7 VWF KNG1 KLKB1 F9 F12 F11
7 hemostasis GO:0007599 9.65 VWF SERPINC1 KNG1 KLKB1 F9 F7
8 zymogen activation GO:0031638 9.61 KLKB1 F9 F12
9 fibrinolysis GO:0042730 9.59 KLKB1 F12
10 response to growth hormone GO:0060416 9.58 SLC34A1 F7
11 negative regulation of blood coagulation GO:0030195 9.58 KNG1 APOH
12 positive regulation of blood coagulation GO:0030194 9.58 F7 F12 APOH
13 positive regulation of positive chemotaxis GO:0050927 9.57 F7 F3
14 response to thyroid hormone GO:0097066 9.56 SLC34A1 F7
15 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F11 APOH
16 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.52 F7 F3
17 blood coagulation, extrinsic pathway GO:0007598 9.51 F7 F3
18 plasminogen activation GO:0031639 9.5 KLKB1 F11 APOH
19 Factor XII activation GO:0002542 9.49 KLKB1 F12
20 positive regulation of fibrinolysis GO:0051919 9.43 KLKB1 F12 F11
21 blood coagulation GO:0007596 9.32 VWF SERPINC1 KNG1 KLKB1 F9 F7

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.85 KLKB1 KLK4 F9 F7 F12 F11
2 peptidase activity GO:0008233 9.63 KLKB1 KLK4 F9 F7 F12 F11
3 heparin binding GO:0008201 9.56 SERPINC1 KNG1 F11 APOH
4 protease binding GO:0002020 9.5 VWF SERPINC1 F3
5 serine-type peptidase activity GO:0008236 9.43 KLKB1 KLK4 F9 F7 F12 F11
6 serine-type endopeptidase activity GO:0004252 9.17 KLKB1 KLK4 F9 F7 F3 F12

Sources for Factor Xii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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