MCID: FCT004
MIFTS: 49

Factor Xii Deficiency malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Factor Xii Deficiency

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Aliases & Descriptions for Factor Xii Deficiency:

Name: Factor Xii Deficiency 49 10 11 45 22 47 12 67 36 65
Hageman Factor Deficiency 10 45 22 67
Factor 12 Deficiency 45 22 24
Haf Deficiency 45 22 67
F12 Deficiency 45 22
 
Coagulation Factor 12 Deficiency 45
Factor Xii Deficiency Disease 10
Deficiency, Hageman 10
Fa12d 67

Characteristics:

HPO:

61
factor xii deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 234000
Disease Ontology10 DOID:2231
SNOMED-CT59 46981006
MeSH36 D005175
MedGen34 C0015526
UMLS65 C0015526

Summaries for Factor Xii Deficiency

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NIH Rare Diseases:45 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 adenocarcinoma and factor v deficiency, and has symptoms including prolonged whole-blood clotting time, reduced factor xii activity and prolonged partial thromboplastin time. An important gene associated with Factor Xii Deficiency is F12 (Coagulation Factor XII), and among its related pathways are Collagen biosynthesis and modifying enzymes and Platelet activation, signaling and aggregation. Affiliated tissues include testes, lung and whole blood, and related mouse phenotypes are nervous system and cardiovascular system.

UniProtKB/Swiss-Prot:67 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:68 Coagulation factor XII, also known as Hageman factor, is a plasma protein. It is the zymogen form of... more...

Description from OMIM:49 234000

Related Diseases for Factor Xii Deficiency

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

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1adenocarcinoma29.5F3, F5, SERPINC1
2factor v deficiency29.1F3, F5, F9, VWF
3congenital factor xii deficiency12.5
4lymphoma10.3
5von willibrand disease, type 310.2F3, VWF
6acquired thrombocytopenia10.2F3, VWF
7babesiosis10.2F3, F9
8b-cell lymphomas10.2
9leukemia10.2
10prostatitis10.2
11melanoma10.2
12thyroiditis10.2
13meningitis10.2
14bronchiectasis10.2
15endotheliitis10.2
16esophagus melanoma10.2F3, SERPINC1
17cyclothymic disorder10.2F3, SERPINC1
18bubonic plague10.2F3, VWF
19fowler's syndrome10.2F3, SERPINC1
20horner's syndrome10.2F12, F9
21cavernous hemangioma of colon10.2F3, SERPINC1
22silo filler's disease10.1F3, SERPINC1
23thumb absent short stature immune deficiency10.1F3, VWF
24abducens nerve neoplasm10.1F3, SERPINC1
25thrombophilia, x-linked, due to factor ix defect10.1F3, F9
26kidney sarcoma10.1F3, SERPINC1
27al gazali aziz salem syndrome10.1F9, VWF
28glycerol kinase deficiency, adult form10.1F3, SERPINC1
29benign epilepsy with centrotemporal spikes10.0F3, F5
30colorectal cancer10.0
31prostate cancer10.0
32hepatocellular carcinoma10.0
33obesity10.0
34hodgkin lymphoma10.0
35nasopharyngeal carcinoma10.0
36pancreatic cancer10.0
37iron-refractory iron deficiency anemia10.0
38androgen insensitivity10.0
39menkes disease10.0
40deficiency anemia10.0
41adult t-cell leukemia10.0
42alopecia10.0
43cutaneous leishmaniasis10.0
44diffuse large b-cell lymphoma10.0
45fecal incontinence10.0
46hepatitis10.0
47hepatitis b10.0
48marginal zone b-cell lymphoma10.0
49nephrolithiasis10.0
50polycystic ovary syndrome10.0

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



Diseases related to factor xii deficiency

Symptoms for Factor Xii Deficiency

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Symptoms by clinical synopsis from OMIM:

234000

Clinical features from OMIM:

234000

HPO human phenotypes related to Factor Xii Deficiency:

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

Drugs & Therapeutics for Factor Xii Deficiency

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Protease Inhibitors4558
2Vasodilator Agents2926
3Kininogens47
4HIV Protease Inhibitors4558
5
Bradykinin4758-82-2439201
Synonyms:
Callidin I
Kallidin 9
 
Kallidin I
L-Arginyl-L-prolyl-L-prolylglycyl-L-phenylalanyl-L-seryl-L-prolyl-L-phenylalanyl-L-Arginine
L-Bradykinin
6cysteineNutraceutical150

Interventional clinical trials:

idNameStatusNCT IDPhase
1Thrombus Formation Under Different Flow-conditionsRecruitingNCT01114074

Search NIH Clinical Center for Factor Xii Deficiency


Cochrane evidence based reviews: factor xii deficiency

Genetic Tests for Factor Xii Deficiency

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Genetic tests related to Factor Xii Deficiency:

id Genetic test Affiliating Genes
1 Factor Xii Deficiency22 F12

Anatomical Context for Factor Xii Deficiency

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MalaCards organs/tissues related to Factor Xii Deficiency:

33
Testes, Lung, Whole blood, Breast, Endothelial, Myeloid, Ovary

Animal Models for Factor Xii Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor Xii Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6F12, F3, F5, SERPINC1, VWF
2MP:00053857.5F3, F5, F9, SERPINC1, VWF
3MP:00053766.8F12, F3, F5, F9, SERPINC1, VWF

Publications for Factor Xii Deficiency

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Articles related to Factor Xii Deficiency:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Diffuse and strong cyclin D1 immunoreactivity in clear cell sarcoma of the kidney. (25556515)
2015
2
Case images: Takayasu's arteritis with left main stem stenosis of single coronary artery. (24643159)
2014
3
S100A4 is upregulated via the binding of c-Myb in methylation-free laryngeal cancer cells. (24174222)
2014
4
Robotically assisted repair of double-orifice mitral valve for mitral regurgitation. (24698473)
2014
5
Randomized, phase III trial of figitumumab in combination with erlotinib versus erlotinib alone in patients with non-adenocarcinoma non-small cell lung cancer. (25395283)
2014
6
Suppression of FOXO1 is responsible for a growth regulatory repressive transcriptional sub-signature of EWS-FLI1 in Ewing sarcoma. (23995784)
2013
7
The neurobiology of anorexia nervosa: A systematic review. (24194589)
2013
8
Rational design of LEDGINs as first allosteric integrase inhibitors for the treatment of HIV infection. (24451643)
2013
9
Creeping eruptions: cutaneous larva migrans. (24392212)
2013
10
Functional paraoxonase 1 variants modify the risk of Parkinson's disease due to organophosphate exposure. (23602893)
2013
11
Mucolipidosis type III in an adolescent presenting with atypical facial features and skeletal deformities. (23610860)
2013
12
Effect of service dogs on manual wheelchair users with spinal cord injury: a pilot study. (23881760)
2013
13
Biphasic Erk1/2 activation sequentially involving Gs and Gi signaling is required in beta3-adrenergic receptor-induced primary smooth muscle cell proliferation. (23388888)
2013
14
Hepatocyte growth factor enhances alternative splicing of the Kruppel-like factor 6 (KLF6) tumor suppressor to promote growth through SRSF1. (22859706)
2012
15
Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]. (22699758)
2012
16
Urinary stress incontinence as the presenting feature of myotonic dystrophy. (22185554)
2012
17
Neural substrates of affective face recognition in alexithymia: a functional magnetic resonance imaging study. (21196782)
2011
18
Acute/subacute cerebral infarction (ASCI) in HIV-negative adults with cryptococcal meningoencephalitis (CM): a MRI-based follow-up study and a clinical comparison to HIV-negative CM adults without ASCI. (21269442)
2011
19
Pathological roles of ganglioside mimicry in Guillain-BarrAc syndrome and related neuropathies. (21618117)
2011
20
Treatment results of anorexia nervosa and bulimia nervosa in a residential treatment program. (21360363)
2011
21
Hydrochlorothiazide-induced noncardiogenic pulmonary edema: BAL fluid analysis. (21208880)
2011
22
A novel mutation (g2172-->c) in the factor v gene in a chinese family with hereditary activated protein C resistance. (20304467)
2010
23
Cross-resistance of platinum derivatives in H-1R, a cisplatin-resistant cell line. (19148521)
2009
24
Orbital manifestations of Langerhans Cell Histiocytosis: A report of three cases. (20927212)
2009
25
Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort. (19291875)
2009
26
Plasmablastic lymphoma of the retroperitoneum in an HIV-negative patient. (20021612)
2009
27
Comparison of estrogen receptor, progesterone receptor and Her-2 status in breast cancer pre- and post-neoadjuvant chemotherapy. (18534850)
2008
28
Simplified purification procedure of laminin-332 and laminin-511 from human cell lines. (18713621)
2008
29
Activation of Epac stimulates integrin-dependent homing of progenitor cells. (18032709)
2008
30
Association of oestrogen receptor beta 2 (ER beta 2/ER beta cx) with outcome of adjuvant endocrine treatment for primary breast cancer--a retrospective study. (17640362)
2007
31
Ionizing radiation enhances matrix metalloproteinase-2 secretion and invasion of glioma cells through Src/epidermal growth factor receptor-mediated p38/Akt and phosphatidylinositol 3-kinase/Akt signaling pathways. (16951163)
2006
32
Transcription regulation by the adaptor protein Fe65 and the nucleosome assembly factor SET. (15592452)
2005
33
A rare cause of myocardial infarction: acute inferoposterior myocardial infarction after successful intravenous thrombolytic treatment of mechanical mitral prosthetic valve thrombosis. (16175440)
2005
34
Isolation of human multipotent mesenchymal stem cells from second-trimester amniotic fluid using a novel two-stage culture protocol. (15105397)
2004
35
Isaacs' syndrome, stiff person syndrome and Satoyoshi disease: pathomechanisms and treatment]. (15651297)
2004
36
Expression of ICAM-1 and VCAM-1 in human ameloblastoma and odontogenic keratocyst]. (14966640)
2003
37
The chromogranin-secretogranin family. (12646671)
2003
38
Effects of a six month treatment with selenomethionine in patients with autoimmune thyroiditis. (12656658)
2003
39
Axonal transport of neurofilaments in normal and disease states. (11924605)
2002
40
14-3-3tau associates with and activates the MEF2D transcription factor during muscle cell differentiation. (11433030)
2001
41
Activation of the phosphatidylinositol 3-kinase-Akt/protein kinase B signaling pathway in arachidonic acid-stimulated human myeloid and endothelial cells: involvement of the ErbB receptor family. (11359783)
2001
42
Fine-needle aspiration cytology of well-differentiated inflammatory liposarcoma: a case report with histologic follow-up. (10204107)
1999
43
Multiple intracranial hemorrhages at the time of a transiently prolonged activated partial thromboplastin time in an infant with congenital factor VII deficiency. (9885365)
1998
44
Cloning of a novel component of A-type K+ channels operating at subthreshold potentials with unique expression in heart and brain. (8734615)
1996
45
Lack of association of schizophrenia with the neurotrophin-3 gene locus. (8837975)
1995
46
Localisation of the human gene encoding the cytoskeletal protein talin to chromosome 9p. (7635475)
1995
47
Prolactin induces phosphorylation of Tyr694 of Stat5 (MGF), a prerequisite for DNA binding and induction of transcription. (7925280)
1994
48
Expression of immediate early genes after treatment of human astrocytoma cells with radiation and taxol. (7901186)
1993
49
Small bowel volvulus complicating intestinal ascariasis in children. (3337961)
1988
50
Some observations on the ectopic ureter and ureterocele. (6028310)
1967

Variations for Factor Xii Deficiency

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

67 (show all 11)
id Symbol AA change Variation ID SNP ID
1F12p.Arg372ProVAR_006623
2F12p.Cys590SerVAR_006624
3F12p.Tyr53CysVAR_014426
4F12p.Arg142ProVAR_031500
5F12p.Ala411ThrVAR_031503
6F12p.Leu414MetVAR_031504
7F12p.Arg417GlnVAR_031505
8F12p.Gln440LysVAR_031506
9F12p.Asp461AsnVAR_031507
10F12p.Trp505CysVAR_031508
11F12p.Gly589ArgVAR_031509

Clinvar genetic disease variations for Factor Xii Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1F12NM_000505.3(F12): c.1681-1G> Asingle nucleotide variantPathogenicrs199988476GRCh37Chr 5, 176829461: 176829461

Expression for genes affiliated with Factor Xii Deficiency

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

Pathways for genes affiliated with Factor Xii Deficiency

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GO Terms for genes affiliated with Factor Xii Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.6F5, VWF
2endoplasmic reticulum lumenGO:00057889.1F5, F9
3extracellular regionGO:00055768.3F12, F5, SERPINC1

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

idNameGO IDScoreTop Affiliating Genes
1zymogen activationGO:00316389.5F12, F9
2response to woundingGO:00096119.2F3, VWF

Sources for Factor Xii Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet