FA12D
MCID: FCT004
MIFTS: 58

Factor Xii Deficiency (FA12D)

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Factor Xii Deficiency

MalaCards integrated aliases for Factor Xii Deficiency:

Name: Factor Xii Deficiency 57 11 19 73 12 53 43 14 71 75
Hageman Factor Deficiency 57 11 19 75 73
Factor Xii Deficiency Disease 11 28 5
Haf Deficiency 57 19 73
F12 Deficiency 57 19
Congenital Hageman Factor Deficiency 58
Coagulation Factor 12 Deficiency 19
Congenital Factor Xii Deficiency 58
Deficiency, Factor Xii 38
Factor 12 Deficiency 19
Deficiency, Hageman 11
Factor Xii 5
Fa12d 73

Characteristics:


Inheritance:

Factor Xii Deficiency: Autosomal recessive 57
Congenital Factor Xii Deficiency: Autosomal recessive 58

Age Of Onset:

Congenital Factor Xii Deficiency: All ages 58

Age Of Death:

Congenital Factor Xii Deficiency: normal life expectancy 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:2231
OMIM® 57 234000
MeSH 43 D005175
NCIt 49 C131740
SNOMED-CT 68 46981006
ICD10 via Orphanet 32 D68.2
UMLS via Orphanet 72 C0015526
Orphanet 58 ORPHA330
MedGen 40 C0015526
UMLS 71 C0015526

Summaries for Factor Xii Deficiency

GARD: 19 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 genetic changes 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 angioedema, hereditary, 3 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 Disease and Response to elevated platelet cytosolic Ca2+. The drugs Kallikreins and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include whole blood, brain and endothelial, and related phenotypes are prolonged partial thromboplastin time and reduced factor xii activity

UniProtKB/Swiss-Prot: 73 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).

Orphanet: 58 A rare, autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.

Disease Ontology: 11 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.

Wikipedia 75 Factor xii deficiency: Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and... more...

Hageman factor deficiency: 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 409)
# Related Disease Score Top Affiliating Genes
1 angioedema, hereditary, 3 31.0 SLC34A1 KNG1 KLK4 F3 F12
2 pregnancy loss, recurrent 1 30.6 F5 APOH
3 hemophilia 30.4 VWF F9 F2
4 heart septal defect 30.3 SERPINC1 F3 F2
5 cerebrovascular disease 30.3 F5 F2 F12 APOH
6 von willebrand disease, type 1 30.1 VWF F3
7 abducens palsy 30.1 SERPINC1 F2
8 lemierre's syndrome 30.0 SERPINC1 F3 F2
9 angioedema 30.0 SLC34A1 KNG1 KLKB1 F2 F12
10 acalculous cholecystitis 29.9 F3 F2
11 congenital disorder of glycosylation, type ia 29.9 SERPINC1 F9
12 hemopericardium 29.9 F3 F2
13 dysfibrinogenemia, congenital 29.9 SERPINC1 F5 F2
14 hemophilia a 29.9 VWF F9 F7 F3 F2
15 atrial heart septal defect 29.9 VWF SERPINC1 F3 F2
16 severe covid-19 29.8 VWF F3 F2
17 protein c deficiency 29.8 SERPINC1 F9 F5 F2 APOH
18 hemolytic uremic syndrome, atypical 1 29.8 VWF F3 F2
19 antithrombin iii deficiency 29.8 SERPINC1 F5 F3 F2 APOH
20 protein s deficiency 29.8 SERPINC1 F5 F3 F2 APOH
21 polycythemia 29.8 F5 F3 F2
22 thrombasthenia 29.8 F5 F3 F2
23 thrombophilia due to thrombin defect 29.7 VWF SERPINC1 F9 F5 F3 F2
24 prothrombin deficiency, congenital 29.7 SERPINC1 F5 F2 APOH
25 carotid artery thrombosis 29.7 VWF SERPINC1 F3 F11
26 angioedema, hereditary, 1 29.7 SLC34A1 KNG1 KLKB1 F12
27 mitral valve stenosis 29.7 VWF SERPINC1 F3 F2
28 hemolytic-uremic syndrome 29.7 VWF SERPINC1 F3 F2
29 thrombocytosis 29.6 VWF SERPINC1 F3 F2
30 carotid artery occlusion 29.6 KNG1 F11
31 eclampsia 29.6 SERPINC1 F3 F2 APOH
32 acute myocardial infarction 29.6 VWF SERPINC1 F7 F3 F2
33 central retinal vein occlusion 29.6 SERPINC1 F5 F3 F2 APOH
34 placental abruption 29.5 SERPINC1 F7 F5 F3 F2 APOH
35 nephrotic syndrome 29.5 SERPINC1 F9 F3 F2
36 retinal vein occlusion 29.5 VWF SERPINC1 F5 F3 F2 APOH
37 peripheral vascular disease 29.5 VWF SERPINC1 F3 F2
38 thrombophlebitis 29.4 VWF SERPINC1 F7 F5 F3 F2
39 liver cirrhosis 29.3 SERPINC1 KLKB1 F3 F2
40 c1 inhibitor deficiency 29.3 KNG1 KLKB1 KLK4 F12
41 purpura 29.3 VWF SERPINC1 F3 F2 APOH
42 antiphospholipid syndrome 29.2 VWF SERPINC1 F5 F3 F2 APOH
43 polycythemia vera 29.2 VWF SERPINC1 F5 F3 F2
44 atherosclerosis susceptibility 29.2 VWF KNG1 F3
45 behcet syndrome 29.2 VWF SERPINC1 F5 F3 F2 APOH
46 von willebrand's disease 29.2 VWF SERPINC1 F9 F7 F5 F3
47 high molecular weight kininogen deficiency 29.2 KNG1 KLKB1 KLK4 F3 F12 F11
48 pulmonary embolism 29.2 VWF SERPINC1 F9 F5 F3 F2
49 hemorrhagic disease 29.2 VWF SERPINC1 F9 F7 F5 F3
50 deficiency anemia 29.2 VWF SERPINC1 F9 F7 F3 F2

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:

58 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged partial thromboplastin time 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003645
2 reduced factor xii activity 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004841
3 thromboembolism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001907
4 retinal vein occlusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012636
5 recurrent spontaneous abortion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200067
6 retinal arteriolar occlusion 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007985
7 abnormal bleeding 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001892
8 penetrating foot ulcers 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001026
9 abnormal thrombosis 58 Occasional (29-5%)
10 prolonged whole-blood clotting time 30 HP:0005542

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

MGI Mouse Phenotypes related to Factor Xii Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 APOH F11 F12 F2 F3 F5
2 cardiovascular system MP:0005385 9.61 F11 F2 F3 F5 F7 F9
3 mortality/aging MP:0010768 9.36 APOH F11 F2 F3 F5 F7

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 Kallikreins Phase 2
2
Sodium citrate Approved, Investigational 68-04-2 23431961
3
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
4 Hemostatics
5 Coagulants
6 Citrate
7 Natriuretic Peptide, Brain
8 Omega 3 Fatty Acid

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 The Influence of the Proteins of the Contact Activation System on Thrombus Formation in Human Blood Unknown status NCT02785718
3 Comparison of Factor XII Levels in Gestational Diabetic and Healthy Pregnancies Completed NCT03583216
4 An Investigation of Activated Factor XII (Fxlla) as a Prognostic Marker. Completed NCT00521976

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

Organs/tissues related to Factor Xii Deficiency:

MalaCards : Whole Blood, Brain, Endothelial, Liver, Neutrophil, Smooth Muscle, Heart

Publications for Factor Xii Deficiency

Articles related to Factor Xii Deficiency:

(show top 50) (show all 2183)
# 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. 62 57 5
8528215 1995
2
Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity. 62 5
21264442 2011
3
Defective thrombus formation in mice lacking coagulation factor XII. 62 57
16009717 2005
4
Myocardial infarction and arterial thrombosis in severe (homozygous) FXII deficiency: no apparent causative relation. 62 57
15678272 2005
5
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. 62 57
15306750 2004
6
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. 62 57
15013868 2004
7
A quantitative-trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombotic disease. 62 57
11805911 2002
8
Factor XII deficiency: a possible cause of livedo with ulceration? 62 57
11069485 2000
9
Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation. 62 5
10361128 1999
10
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. 62 5
8049433 1994
11
John Hageman's factor and deep-vein thrombosis: Leiden thrombophilia Study. 62 57
7947293 1994
12
Factor XII (Hageman) deficiency in women with habitual abortion: new subpopulation of recurrent aborters? 62 57
8419231 1993
13
Thromboembolism and bleeding tendency in congenital factor XII deficiency--a study on 74 subjects from 14 Swiss families. 62 57
1905067 1991
14
Superficial migratory thrombophlebitis and factor XII deficiency. 62 57
2110579 1990
15
Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution. 62 5
2510163 1989
16
Structural gene encoding human factor XII is located at 5q33-qter. 62 57
3162339 1988
17
Factor XII gene alteration in Hageman trait detected by TaqI restriction enzyme. 62 57
2882793 1987
18
Reduced titers of Hageman factor (factor XII) in Orientals. 62 57
7305148 1981
19
Factor-XII congenital deficiency. A new family study. 62 57
505391 1979
20
Hageman trait (factor XII deficiency): a probably second genotype inherited as an autosomal dominant characteristic. 62 57
4626869 1972
21
Factor XII defect and hemorrhage. Evidence for a new type of hereditary hemostatic disorder. 62 57
5432188 1970
22
[Probable localisation of a Hageman (factor XII) locus on an autosome]. 62 57
5303429 1968
23
Hageman factor deficiency. Report of a case found in a Japanese girl. 62 57
4968868 1968
24
Oscar Ratnoff: his contributions to the golden era of coagulation research. 57
12846885 2003
25
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
26
A quarter century with Mr. Hageman. 57
7006141 1980
27
Fatal vascular disease in a patient with Hageman trait and a connective-tissue disorder. 57
917064 1977
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. 53 62
20386432 2010
33
Implications for cardiac surgery in patients with factor XII deficiency. 53 62
20103363 2010
34
Rosai-Dorfman disease with factor XII deficiency. 53 62
19326165 2009
35
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. 53 62
18392695 2009
36
Pathogenetic potential of antiphospholipid antibodies. 53 62
19804088 2006
37
Cardiopulmonary bypass in patients with pre-existing coagulopathy. 53 62
15804152 2005
38
Periodic painful purpura: fact or factitious? 53 62
14961912 2004
39
Molecular characterization of coagulation factor XII deficiency in a Japanese family. 53 62
12876626 2003
40
Hemostyptic effect of oxidized cellulose on blood platelets. 53 62
14577133 2003
41
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. 53 62
12297136 2002
42
Symptomatic combined homozygous factor XII deficiency and heterozygous factor V Leiden. [email protected] 53 62
10728027 2000
43
Transcatheter closure of atrial septal defect and patent foramen ovale with ASDOS device (a multi-institutional European trial). 53 62
9856928 1998
44
Thrombus formation on transcatheter ASD occluder device in a patient with coagulation factor XII deficiency. 53 62
9473199 1998
45
Thrombosis in patients with heterozygous and homozygous factor XII deficiency is not explained by the associated presence of factor V Leiden. 53 62
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. 53 62
8639777 1996
47
A female hemophilia A combined with hereditary coagulation factor XII deficiency: a case report. 53 62
1550105 1992
48
Factor XII deficiency and pregnancy. 53 62
1870803 1991
49
Abnormal proteolytic degradation of von Willebrand factor after desmopressin infusion in a new subtype of von Willebrand disease (ID). 53 62
1996556 1991
50
Phenotypic and genetic analyses of four cases of coagulation factor XII deficiency. 62
35866546 2022

Variations for Factor Xii Deficiency

ClinVar genetic disease variations for Factor Xii Deficiency:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F12, SLC34A1 NM_000505.4(F12):c.1768T>A (p.Cys590Ser) SNV Pathogenic
1164 rs1157280571 GRCh37: 5:176829373-176829373
GRCh38: 5:177402372-177402372
2 F12, SLC34A1 NM_000505.4(F12):c.1115G>C (p.Arg372Pro) SNV Pathogenic
1165 rs118204454 GRCh37: 5:176830995-176830995
GRCh38: 5:177403994-177403994
3 F12, SLC34A1 NM_000505.4(F12):c.1681-1G>A SNV Pathogenic
1166 rs199988476 GRCh37: 5:176829461-176829461
GRCh38: 5:177402460-177402460
4 F12, SLC34A1 NM_000505.4(F12):c.158A>G (p.Tyr53Cys) SNV Pathogenic
Uncertain Significance
1168 rs118204455 GRCh37: 5:176833020-176833020
GRCh38: 5:177406019-177406019
5 F12, SLC34A1 NM_000505.4(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic
Pathogenic
1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
6 F12, SLC34A1 NM_000505.4(F12):c.1027G>C (p.Ala343Pro) SNV Conflicting Interpretations Of Pathogenicity
225352 rs183643295 GRCh37: 5:176831083-176831083
GRCh38: 5:177404082-177404082
7 F12, SLC34A1 NM_000505.4(F12):c.1025C>T (p.Pro342Leu) SNV Uncertain Significance
352993 rs2230939 GRCh37: 5:176831085-176831085
GRCh38: 5:177404084-177404084
8 F12, SLC34A1 NM_000505.4(F12):c.1107G>C (p.Ser369=) SNV Uncertain Significance
352992 rs141473119 GRCh37: 5:176831003-176831003
GRCh38: 5:177404002-177404002
9 F12, SLC34A1 NM_000505.4(F12):c.1018+12G>C SNV Uncertain Significance
352995 rs758462343 GRCh37: 5:176831185-176831185
GRCh38: 5:177404184-177404184
10 F12, SLC34A1 NM_000505.4(F12):c.-3G>A SNV Uncertain Significance
353004 rs201346142 GRCh37: 5:176836531-176836531
GRCh38: 5:177409530-177409530
11 F12, SLC34A1 NM_000505.4(F12):c.1018+13G>C SNV Uncertain Significance
352994 rs552424629 GRCh37: 5:176831184-176831184
GRCh38: 5:177404183-177404183
12 F12, SLC34A1 NM_000505.4(F12):c.-25G>A SNV Uncertain Significance
353006 rs886060472 GRCh37: 5:176836553-176836553
GRCh38: 5:177409552-177409552
13 F12, SLC34A1 NM_000505.4(F12):c.928A>T (p.Arg310Trp) SNV Uncertain Significance
352997 rs749549919 GRCh37: 5:176831287-176831287
GRCh38: 5:177404286-177404286
14 F12, SLC34A1 NM_000505.4(F12):c.348C>A (p.Gly116=) SNV Uncertain Significance
353003 rs140243617 GRCh37: 5:176832373-176832373
GRCh38: 5:177405372-177405372
15 F12, SLC34A1 NM_000505.4(F12):c.630C>T (p.Asp210=) SNV Uncertain Significance
353000 rs886060471 GRCh37: 5:176831815-176831815
GRCh38: 5:177404814-177404814
16 F12, SLC34A1 NM_000505.4(F12):c.1212C>G (p.Pro404=) SNV Uncertain Significance
352991 rs756802257 GRCh37: 5:176830898-176830898
GRCh38: 5:177403897-177403897
17 F12, SLC34A1 NM_000505.4(F12):c.1251-12C>A SNV Uncertain Significance
352990 rs747726864 GRCh37: 5:176830630-176830630
GRCh38: 5:177403629-177403629
18 F12, SLC34A1 NM_000505.4(F12):c.1704G>A (p.Val568=) SNV Uncertain Significance
904430 rs536390950 GRCh37: 5:176829437-176829437
GRCh38: 5:177402436-177402436
19 F12, SLC34A1 NM_000505.4(F12):c.1387+4C>G SNV Uncertain Significance
904431 rs761161412 GRCh37: 5:176830478-176830478
GRCh38: 5:177403477-177403477
20 F12, SLC34A1 NM_000505.4(F12):c.1018+11G>T SNV Uncertain Significance
904493 rs570973405 GRCh37: 5:176831186-176831186
GRCh38: 5:177404185-177404185
21 F12, SLC34A1 NM_000505.4(F12):c.957G>C (p.Gln319His) SNV Uncertain Significance
904494 rs1763225226 GRCh37: 5:176831258-176831258
GRCh38: 5:177404257-177404257
22 F12, SLC34A1 NM_000505.4(F12):c.120C>T (p.Leu40=) SNV Uncertain Significance
904551 rs149368999 GRCh37: 5:176833058-176833058
GRCh38: 5:177406057-177406057
23 F12, SLC34A1 NM_000505.4(F12):c.30G>A (p.Leu10=) SNV Uncertain Significance
904552 rs745617919 GRCh37: 5:176836499-176836499
GRCh38: 5:177409498-177409498
24 F12, SLC34A1 NM_000505.4(F12):c.1251-9C>A SNV Uncertain Significance
Benign
905230 rs17876032 GRCh37: 5:176830627-176830627
GRCh38: 5:177403626-177403626
25 F12, SLC34A1 NM_000505.4(F12):c.1142G>A (p.Arg381His) SNV Uncertain Significance
906814 rs1763214147 GRCh37: 5:176830968-176830968
GRCh38: 5:177403967-177403967
26 F12, SLC34A1 NM_000505.4(F12):c.*86C>T SNV Uncertain Significance
907757 rs777897437 GRCh37: 5:176829207-176829207
GRCh38: 5:177402206-177402206
27 F12, SLC34A1 NM_000505.4(F12):c.*9G>A SNV Uncertain Significance
904429 rs1763150862 GRCh37: 5:176829284-176829284
GRCh38: 5:177402283-177402283
28 F12, SLC34A1 NM_000505.4(F12):c.1018+14G>T SNV Uncertain Significance
907810 rs779057710 GRCh37: 5:176831183-176831183
GRCh38: 5:177404182-177404182
29 F12, SLC34A1 NM_000505.4(F12):c.293G>A (p.Cys98Tyr) SNV Uncertain Significance
907866 rs770412757 GRCh37: 5:176832428-176832428
GRCh38: 5:177405427-177405427
30 F12, SLC34A1 NM_000505.4(F12):c.286+6A>G SNV Uncertain Significance
907867 rs1763273226 GRCh37: 5:176832730-176832730
GRCh38: 5:177405729-177405729
31 F12, SLC34A1 NM_000505.4(F12):c.129C>T (p.Thr43=) SNV Uncertain Significance
904550 rs201546796 GRCh37: 5:176833049-176833049
GRCh38: 5:177406048-177406048
32 F12, SLC34A1 NM_003052.5(SLC34A1):c.*361T>C SNV Likely Benign
352983 rs539754545 GRCh37: 5:176825648-176825648
GRCh38: 5:177398647-177398647
33 F12, SLC34A1 NM_000505.4(F12):c.1251-7C>T SNV Likely Benign
352989 rs375340260 GRCh37: 5:176830625-176830625
GRCh38: 5:177403624-177403624
34 F12, SLC34A1 NM_000505.3(F12):c.-62C>T SNV Likely Benign
369463 rs187018744 GRCh37: 5:176836590-176836590
GRCh38: 5:177409589-177409589
35 F12, SLC34A1 NM_000505.4(F12):c.-8C>T SNV Likely Benign
353005 rs369991760 GRCh37: 5:176836536-176836536
GRCh38: 5:177409535-177409535
36 F12, SLC34A1 NM_003052.5(SLC34A1):c.*179G>A SNV Likely Benign
352979 rs141664220 GRCh37: 5:176825466-176825466
GRCh38: 5:177398465-177398465
37 F12, SLC34A1 NM_003052.5(SLC34A1):c.*485G>A SNV Likely Benign
352985 rs143160780 GRCh37: 5:176825772-176825772
GRCh38: 5:177398771-177398771
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.1702C>T (p.His568Tyr) SNV Likely Benign
352975 rs34225933 GRCh37: 5:176825069-176825069
GRCh38: 5:177398068-177398068
40 F12, SLC34A1 NM_000505.4(F12):c.1342C>T (p.Arg448Cys) SNV Likely Benign
352986 rs115119084 GRCh37: 5:176830527-176830527
GRCh38: 5:177403526-177403526
41 F12, SLC34A1 NM_000505.4(F12):c.398-12C>T SNV Likely Benign
353002 rs56285942 GRCh37: 5:176832198-176832198
GRCh38: 5:177405197-177405197
42 F12, SLC34A1 NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) SNV Likely Benign
352973 rs199565633 GRCh37: 5:176824850-176824850
GRCh38: 5:177397849-177397849
43 F12, SLC34A1 NM_000505.4(F12):c.1299C>T (p.Asn433=) SNV Likely Benign
352987 rs17876033 GRCh37: 5:176830570-176830570
GRCh38: 5:177403569-177403569
44 F12, SLC34A1 NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) SNV Likely Benign
352976 rs148575220 GRCh37: 5:176825086-176825086
GRCh38: 5:177398085-177398085
45 F12, SLC34A1 NM_000505.4(F12):c.1272G>C (p.Thr424=) SNV Likely Benign
352988 rs61737766 GRCh37: 5:176830597-176830597
GRCh38: 5:177403596-177403596
46 F12, SLC34A1 NM_000505.4(F12):c.418C>G (p.Leu140Val) SNV Likely Benign
353001 rs35515200 GRCh37: 5:176832166-176832166
GRCh38: 5:177405165-177405165
47 F12, SLC34A1 NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) SNV Benign
352974 rs7379524 GRCh37: 5:176825002-176825002
GRCh38: 5:177398001-177398001
48 F12, SLC34A1 NM_000505.4(F12):c.711C>T (p.Pro237=) SNV Benign
352999 rs17876047 GRCh37: 5:176831589-176831589
GRCh38: 5:177404588-177404588
49 F12, SLC34A1 NM_000505.4(F12):c.756C>T (p.Ala252=) SNV Benign
352998 rs41309752 GRCh37: 5:176831544-176831544
GRCh38: 5:177404543-177404543
50 F12, SLC34A1 NM_000505.4(F12):c.930G>C (p.Arg310Ser) SNV Benign
352996 rs77098327 GRCh37: 5:176831285-176831285
GRCh38: 5:177404284-177404284

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

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 F12 p.Arg372Pro VAR_006623 rs118204454
2 F12 p.Cys590Ser VAR_006624 rs1157280571
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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.43 VWF SLC34A1 KLKB1 F9 F2 F12
2
Show member pathways
13 APOH F11 F12 F2 F3 F5
3
Show member pathways
12.16 VWF SERPINC1 KNG1 KLKB1 F9 F7
4
Show member pathways
12.07 SERPINC1 KNG1 KLKB1 KLK4 F9 F7
5
Show member pathways
12.04 SERPINC1 KNG1 F5 F2
6
Show member pathways
11.67 KNG1 KLKB1 F12
7
Show member pathways
11.62 F9 F7 F2
8 11.24 KLKB1 KLK4 F12 F11
9
Show member pathways
11.02 F9 F7 F2

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 10.36 VWF SERPINC1 KNG1 KLKB1 F9 F2
2 extracellular space GO:0005615 10.23 APOH F11 F12 F2 F3 F5
3 extracellular region GO:0005576 10.05 APOH F11 F12 F2 F3 F5
4 endoplasmic reticulum lumen GO:0005788 10.03 SERPINC1 KNG1 F9 F7 F5 F2
5 platelet alpha granule lumen GO:0031093 9.91 VWF KNG1 F5
6 serine-type endopeptidase complex GO:1905370 9.8 F9 F7 F2
7 platelet alpha granule GO:0031091 9.76 VWF F5
8 serine-type peptidase complex GO:1905286 9.67 F3 F7
9 collagen-containing extracellular matrix GO:0062023 9.58 VWF SERPINC1 KNG1 F9 F7 F3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.21 F11 F12 F2 F7 F9 KLK4
2 protein processing GO:0016485 10.05 F7 F3 F12
3 zymogen activation GO:0031638 9.95 KLKB1 F9 F12
4 fibrinolysis GO:0042730 9.93 KLKB1 F2 F12
5 positive regulation of blood coagulation GO:0030194 9.92 F7 F2 F12 APOH
6 negative regulation of blood coagulation GO:0030195 9.89 KNG1 APOH
7 negative regulation of fibrinolysis GO:0051918 9.88 F2 APOH
8 plasminogen activation GO:0031639 9.88 KLKB1 F11 APOH
9 response to growth hormone GO:0060416 9.87 SLC34A1 F7
10 positive regulation of positive chemotaxis GO:0050927 9.86 F7 F3
11 positive regulation of fibrinolysis GO:0051919 9.85 KLKB1 F12 F11
12 blood coagulation, intrinsic pathway GO:0007597 9.84 F12 APOH
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.83 F3 F7
14 response to vitamin K GO:0032571 9.81 F5 F7
15 Factor XII activation GO:0002542 9.8 KLKB1 F12
16 hemostasis GO:0007599 9.73 VWF SERPINC1 KNG1 KLKB1 F9 F7
17 response to thyroid hormone GO:0097066 9.72 SLC34A1 F7
18 blood coagulation GO:0007596 9.66 VWF SERPINC1 KNG1 KLKB1 F9 F7
19 regulation of blood coagulation GO:0030193 9.65 SERPINC1 F2 F11 APOH
20 regulation of body fluid levels GO:0050878 9.46 F2 F5 F7 F9

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.96 SERPINC1 KNG1 F2 F11 APOH
2 hydrolase activity GO:0016787 9.87 KLKB1 KLK4 F9 F7 F2 F12
3 peptidase activity GO:0008233 9.7 KLKB1 KLK4 F9 F7 F2 F12
4 serine-type peptidase activity GO:0008236 9.61 F11 F12 F2 F7 F9 KLK4
5 serine-type endopeptidase activity GO:0004252 9.53 KLKB1 KLK4 F9 F7 F3 F2

Sources for Factor Xii Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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