FA12D
MCID: FCT004
MIFTS: 50

Factor Xii Deficiency (FA12D) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor Xii Deficiency

Aliases & Descriptions for Factor Xii Deficiency:

Name: Factor Xii Deficiency 54 12 50 24 66 13 52 42 14 69
Hageman Factor Deficiency 12 50 24 66
Factor 12 Deficiency 50 24 29
Haf Deficiency 50 24 66
F12 Deficiency 50 24
Congenital Hageman Factor Deficiency 56
Coagulation Factor 12 Deficiency 50
Congenital Factor Xii Deficiency 56
Factor Xii Deficiency Disease 12
Coagulation Factor Xii 13
Deficiency, Hageman 12
Fa12d 66

Characteristics:

Orphanet epidemiological data:

56
congenital factor xii deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
factor xii deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 234000
Disease Ontology 12 DOID:2231
MeSH 42 D005175
SNOMED-CT 64 46981006
Orphanet 56 ORPHA330
ICD10 via Orphanet 34 D68.2
MedGen 40 C0015526
UMLS 69 C0015526

Summaries for Factor Xii Deficiency

NIH Rare Diseases : 50 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 lupus erythematosus and hemolytic-uremic syndrome, 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 Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Coagulants and Hemostatics 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 : 66 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 : 71 Factor XII deficiency (also Hageman factor deficiency) is a deficiency in the production of factor XII... 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 135)
id Related Disease Score Top Affiliating Genes
1 lupus erythematosus 29.6 F3 SERPINC1
2 hemolytic-uremic syndrome 29.5 F3 SERPINC1
3 renal cell carcinoma, papillary 10.2
4 thrombosis 10.2
5 hereditary angioedema 10.1
6 angioedema 10.1
7 noma 10.1 F3 F9
8 peanut allergy 10.1 F12 SERPINC1
9 sertoli cell tumor 10.1 F3 SERPINC1
10 influenza 10.1 F3 SERPINC1
11 freiberg's disease 10.1 F3 SERPINC1
12 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.1 F3 SERPINC1
13 spinocerebellar ataxia 27 10.1 F3 F9
14 chorioretinal scar 10.1 F3 SERPINC1
15 mixed hepatoblastoma 10.1 F3 SERPINC1
16 dmd-related dilated cardiomyopathy 10.1 F3 SERPINC1
17 midline cystocele 10.1 F3 SERPINC1
18 secretory diarrhea myopathy and deafness 10.1 F3 SERPINC1
19 thyroid cancer, anaplastic 10.1 APOH F3
20 conjunctivochalasis 10.1 F3 SERPINC1
21 ductal carcinoma in situ 10.1 F3 SERPINC1
22 lung combined large cell neuroendocrine carcinoma 10.1 APOH F3
23 monocular exotropia 10.1 F3 SERPINC1
24 may-hegglin anomaly 10.1 APOH SERPINC1
25 epstein-barr virus hepatitis 10.1 F3 SERPINC1
26 xfe progeroid syndrome 10.1 F9 SERPINC1
27 septic myocarditis 10.1 F3 SERPINC1
28 hereditary alpha tryptasemia syndrome 10.1 F3 SERPINC1
29 zika virus congenital syndrome 10.1 F3 SERPINC1
30 capillary hemangioma 10.1 F3 SERPINC1
31 hennekam lymphangiectasia-lymphedema syndrome 2 10.0 F3 SERPINC1
32 stroke, ischemic 10.0 F3 F5
33 pyridoxamine 5'-phosphate oxidase deficiency 10.0 F3 F9
34 med13l syndrome 10.0 APOH F5
35 achard thiers syndrome 10.0 APOH F5
36 inherited blood coagulation disease 10.0 F3 F5
37 lubinsky syndrome 10.0 APOH F5
38 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.0 APOH F5
39 lung cancer 10.0 APOH F5
40 myocardial infarction 10.0
41 ischemic optic neuropathy 10.0 APOH SERPINC1
42 granulomatous hepatitis 10.0 F3 SERPINC1
43 bladder hepatoid adenocarcinoma 10.0 APOH F5
44 stt3a-cdg and stt3b-cdg 10.0 F5 SERPINC1
45 low anorectal malformation 10.0 F3 F5
46 myosclerosis, congenital 10.0 F5 SERPINC1
47 neuroaxonal dystrophy 10.0 F5 SERPINC1
48 congenital chloride diarrhea 9.9 F3 SERPINC1
49 mental retardation hypotonia skin hyperpigmentation 9.9 F5 SERPINC1
50 spinal cord lipoma 9.9 APOH F3 SERPINC1

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 by clinical synopsis from OMIM:

234000

Clinical features from OMIM:

234000

Human phenotypes related to Factor Xii Deficiency:

32
id 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:

44
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Coagulants
2 Hemostatics
3
Bradykinin 58-82-2 439201
4 HIV Protease Inhibitors
5 Kininogens
6
protease inhibitors
7 Vasodilator Agents
8 cysteine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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:

id Genetic test Affiliating Genes
1 Factor Xii Deficiency Disease 29
2 Factor Xii Deficiency 24 F12

Anatomical Context for Factor Xii Deficiency

MalaCards organs/tissues related to Factor Xii Deficiency:

39
Testes, Whole Blood, Heart, Liver

Publications for Factor Xii Deficiency

Articles related to Factor Xii Deficiency:

(show top 50) (show all 117)
id Title Authors Year
1
A novel missense mutation in the factor XII gene in a litter of cats with factor XII deficiency. ( 28392508 )
2017
2
Genetic analysis of a hereditary factor XII deficiency pedigree of a consanguineous marriage due to a homozygous F12 gene mutation: Gly341Arg. ( 28007010 )
2016
3
Novel mutations in congenital factor XII deficiency. ( 26709783 )
2016
4
A comparison of the effects of factor XII deficiency and prekallikrein deficiency on thrombus formation. ( 26950760 )
2016
5
[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency]. ( 26037346 )
2015
6
Prevalent factor XII deficiency in cancer patients with isolated aPTT prolongation. ( 26157783 )
2015
7
Molecular Characterization of a Novel Missense Mutation (Asp538Asn) in a Chinese Patient with Factor XII Deficiency. ( 26882823 )
2015
8
Cardiopulmonary Bypass in a Patient with Factor XII Deficiency. ( 26357791 )
2014
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
Retinal venous thrombosis in a young patient with coagulation factor xii deficiency. ( 24269423 )
2013
13
Molecular analysis of factor XII gene in Thai patients with factor XII deficiency. ( 23492916 )
2013
14
Perioperative management of cardiac surgery patients with factor XII deficiency - two case reports. ( 23348490 )
2012
15
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
16
A novel factor XII mutation, FXII R84P, causing factor XII deficiency in a patient with hereditary spastic paraplegia. ( 21297451 )
2011
17
Report 2 cases of congenital factor XII deficiency: a rare coagulation disorder. ( 22043782 )
2011
18
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
19
Implications for cardiac surgery in patients with factor XII deficiency. ( 20103363 )
2010
20
Factor XII Ofunato: Lys346Asn mutation associated with blood coagulation factor XII deficiency causes impaired secretion through a proteasome-mediated degradation. ( 20022356 )
2010
21
Novel deleterious mutation in the F12 gene in a Korean family with severe coagulation factor XII deficiency. ( 20729721 )
2010
22
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency. ( 20386432 )
2010
23
Invited Commentary. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 20043377 )
2009
24
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy with severe factor XII deficiency. ( 19934572 )
2009
25
Relationship between factor XII deficiency and thrombosis: the debate is still open? ( 19353242 )
2009
26
Rosai-Dorfman disease with factor XII deficiency. ( 19326165 )
2009
27
Deep venous thrombosis and previous myocardial infarction in mild factor XII deficiency: a risk factor for both venous and arterial thrombosis. ( 18392695 )
2009
28
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
29
A complete factor XII deficiency does not affect coagulopathy, inflammatory responses, and lethality, but attenuates early hypotension in endotoxemic mice. ( 18761719 )
2008
30
Aortic valve repair in a patient with factor XII deficiency. ( 18503953 )
2008
31
A novel mutation in a patient with congenital coagulation factor XII deficiency. ( 18710647 )
2008
32
Lemierre's syndrome complicating bacterial pharyngitis in a patient with undiagnosed factor XII deficiency. ( 17499688 )
2007
33
High incidence of plasma factor XII deficiency in normal Korean subjects. ( 16165195 )
2006
34
Factor XII deficiency acquired by orthotopic liver transplantation: case report and review of the literature. ( 16827880 )
2006
35
Factor XII Shizuoka, a novel mutation (Ala392Thr) identified and characterized in a patient with congenital coagulation factor XII deficiency. ( 15617741 )
2005
36
Mitral valve repair and cardiac transplantation in a patient with factor XII deficiency. ( 16130082 )
2005
37
Comparable levels of activity and antigen in factor XII deficiency: a study of 21 homozygotes and 58 heterozygotes. ( 16015420 )
2005
38
Acquired factor XII deficiency in a woman with recurrent pregnancy loss: working on a differential diagnosis in a single case. ( 16324213 )
2005
39
Characterization of factor XII Tenri, a rare CRM-negative factor XII deficiency. ( 15228238 )
2004
40
Thrombosis-free surgical procedures in severe (Homozygote) factor XII deficiency: report of four additional cases and literature review. ( 15497021 )
2004
41
Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. ( 15013868 )
2004
42
Orbital subperiosteal hemorrhage in a patient with factor VIII and factor XII Deficiency. ( 15609524 )
2004
43
Perioperative management of a patient with severe factor XII deficiency. ( 15678740 )
2004
44
Genetic analyses and expression studies identified a novel mutation (W486C) as a molecular basis of congenital coagulation factor XII deficiency. ( 15205584 )
2004
45
Molecular characterization of coagulation factor XII deficiency in a Japanese family. ( 12876626 )
2003
46
Factor XII deficiency and recurrent sixth nerve palsy. ( 12598465 )
2003
47
Factor XII deficiency is strongly associated with primary recurrent abortions. ( 12969703 )
2003
48
Huge left atrial thrombus with mitral stenosis in congenital factor XII deficiency. ( 11834028 )
2002
49
Combined severe factor XII deficiency and homozygous factor V Leiden mutation in a patient with venous thrombosis. ( 12297136 )
2002
50
Aortic valve replacement in a patient with factor XII deficiency: case report. ( 11380103 )
2001

Variations for Factor Xii Deficiency

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

66 (show all 11)
id 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
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

GO Terms for Factor Xii Deficiency

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

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.16 F3 SERPINC1
2 phospholipid binding GO:0005543 8.96 APOH F3
3 serine-type endopeptidase activity GO:0004252 8.92 F12 F3 F5 F9

Sources for Factor Xii Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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